Friedreich's ataxia: how is it different from other ataxias. Hereditary Friedreich's ataxia - symptoms, treatment and prognosis Is Friedreich's ataxia inherited?

Friedreich's disease belongs to a group of hereditary neurodegenerative diseases. It is characterized by the presence of ataxia (impaired coordination), hereditary transmission, and a multiplicity of clinical manifestations. Without treatment, the pathology quickly leads to disability in patients, therefore timely diagnosis Friedreich's ataxia has important socio-economic significance.

Description of Friedreich's ataxia

Friedreich's ataxia is a disease with a hereditary transmission pattern: the cause is a gene defect located in the short arm of the ninth chromosome. In patients, the synthesis of the protein frataxin, which is responsible for iron metabolism at the cellular level, is disrupted.

Frataxin plays important role in the work of the main energy stations of the cell - mitochondria.

With Friedreich's ataxia, a characteristic gait is observed: the person has difficulty maintaining balance

The following cells are damaged:

nervous;
pancreas, which produces insulin (a hormone that regulates glucose metabolism in the body);
visual analyzers.

In addition, the fibers of the heart muscle - the myocardium, as well as the musculoskeletal system, are affected.

The prevalence of the pathology is 2–7 cases per 100 thousand people. It occurs equally often among both men and women. Representatives of the Negroid race do not suffer from this disease.

How is hereditary Friedreich's ataxia transmitted - video

The mechanism of transmission of the disease by inheritance

Friedreich's disease is the most common form of hereditary ataxia. The disease is transmitted through an autosomal recessive mechanism. This means that for the development of pathology, the presence of two identical copies of the defective gene is necessary.

The parents of a patient with Friedreich's ataxia will be healthy if they are considered heterozygous, that is, they have one healthy gene and one defective one (do not give clinical manifestations).

Friedreich's ataxia is inherited through an autosomal recessive mechanism

Clinical manifestations of Friedreich's familial ataxia

The clinical picture was described by the German physician Nikalaus Friedreich back in 1860, and to this day the disease bears his name. The onset most often occurs in the second decade of life, the first symptoms usually appear in the prepubertal period (7–13 years).

The anatomical basis of Friedreich's ataxia is degeneration of the posterior and lateral columns spinal cord, where nerve fibers pass that provide implementation different types sensitivity and motor functions. Changes are especially noticeable in the lumbosacral region.

Exist various options mutations of the gene encoding the synthesis of frataxin, due to which the symptoms can be extremely diverse. The typical picture of the disease includes damage to the visual analyzer and a large number of organ systems:

nervous;
endocrine;
cardiovascular;
musculoskeletal

Visual disturbances in Friedreich's ataxia are relatively rare and may include refractive errors, pigmentary retinopathy, etc.

In some patients, Friedreich's ataxia leads to the development of cataracts

The atypical form is characterized by a more favorable course.

Sometimes the disease begins with a set of symptoms, which is due to multiple gene actions, when one gene encodes several traits (forms of protein). Often the patient may be under observation for a long time narrow specialist, unaware of the presence of hereditary pathology.

Damage to the nervous system

The patient may experience the following signs of damage to the nervous system:

unsteadiness of gait (ataxia);
speech defects - dysarthria;
pyramidal (paresis) and extrapyramidal (deterioration of coordination) symptoms;
deterioration of sensitivity;
decrease and disappearance of deep reflexes (usually manifests itself first);
dysfunction pelvic organs(difficulty urinating and defecating).

Other manifestations characteristic of Friedreich's ataxia are called extraneural.

Damage to the endocrine system

In addition to neurological disorders, patients often suffer from the following diseases:

diabetes mellitus;
hypogonadism - dysfunction of the sex glands;
obesity;
infantilism.

Musculoskeletal changes

Friedreich's ataxia is characterized by skeletal deformities:

Damage to the cardiovascular system

Defeat of cardio-vascular system characterized by the development of cardiomyopathy, often hypertrophic, which is accompanied by proliferation of the myocardial membrane. At the same time, the volume of the heart cavities decreases, which leads to hemodynamic disturbances.

Manifestations of Friedreich's ataxia may also include rhythm disturbances resulting from cardiomyopathy.

Diagnosis methods

To make a correct diagnosis, the following reference points for the doctor will be:

a thorough study of the pedigree of the proband (the person for whom a genetic map is being drawn up);
recording the time of onset of the first symptoms;
combination neurological symptoms and damage to other body systems;
the presence of skeletal deformities.

The main difficulty in diagnosing the disease lies in the variety of symptoms. Only by combining all the manifestations into a single picture is it possible to make a correct diagnosis. Often, patients are observed for a long time by doctors of different specialties to determine whether one of the body systems is affected.

Additional research methods are used:

Differential diagnosis is carried out with other types of ataxia, as well as with the following pathologies:

multiple sclerosis;
syphilitic damage to the central nervous system;
cerebellar tumors;
funicular myelosis.

Treatment

Treatment of Friedreich's disease is symptomatic. To reduce the incidence of complications and improve quality of life, the following drugs are used:

antioxidants (metabolic drugs that reduce the number of free radicals in the cell), including multivitamins;
Noben (Coenzyme Q10), which is one of the important factors in the chain energy metabolism cells at the biochemical level;
nootropics - Piracetam, Aminalon, Encephabol, Cerebrolysin, Cytochrome C, Picamilon, Semax, products containing ginkgo biloba extract, improving brain activity;
metabolites - Cocarboxylase, Riboxin, Mildronate, Cytoflavin;
Botox - pharmacological drug, whose action is based on the weakening of neuromuscular transmission, is used to eliminate spasticity.

The following measures for the treatment of extraneural manifestations are also possible:

surgical treatment of scoliosis - installation of a metal frame, which is a rod and a set of clamps attached to the necessary vertebrae and gives stability to the spinal column;
correction of endocrine disorders;
correction of rhythm disturbances and other consequences of myocardial changes;
getting rid of cataracts.

Physiotherapy and exercise therapy are considered necessary components of the treatment of Friedreich's ataxia.

Therapeutic exercise is designed to:

form normal muscle tone;
maintain muscle strength at the proper level;
prevent the formation of contractures (limitation of joint mobility);
Teach essential motor skills under the guidance of an experienced instructor.

These measures allow you to preserve for a long time motor functions body.

Massage for Friedreich's ataxia should be performed by a specialist

Physiotherapy methods include:

massage;
paraffin therapy;
warm applications with ozokerite - mountain wax;
electrophoresis with muscle relaxants;
electrophoresis with atropine on the area Bladder(used for dysfunction of the pelvic organs).

For Friedreich's ataxia, warm applications with ozokerite are indicated

Since Friedreich's ataxia is accompanied by a disorder of energy metabolism, patients with this disease should limit their intake of carbohydrates, since their high consumption increases the manifestations of the defect.

Social adaptation measures are also necessary. Support and help from the patient’s environment are very important.

Medicines prescribed for pathology - gallery

Botox is used to relieve spasticity Noben improves metabolic processes in the brain Piracetam - nootropic drug, improves brain activity Multivitamins reduce free radicals Riboxin is a drug that normalizes myocardial metabolism

New methods in the treatment of the disease

Scientists different countries are working on projects to create new treatments for Friedreich's disease, in particular drugs that can increase the level of frataxin in cells. Research is also being conducted in the field of gene therapy, which would allow, through genetic engineering technologies, to correct a defective gene and prevent the development of the disease.

A method of treating Friedreich's ataxia by transplanting stem cells taken from the umbilical cord blood of full-term infants is currently under development.

Treatment of Friedreich's ataxia - video

Course of the disease and prognosis

Even despite the ongoing treatment measures, Friedreich's ataxia is characterized by steady progression - 50% of patients do not live to see 35 years of age. Death may occur due to the development of respiratory or heart failure.

Prevention methods

Prevention is based on medical genetic consultation. Currently, genetic testing of future parents and prenatal diagnostics are carried out. By amniocentesis or cordocentesis, the biological material of the fetus is examined.

Amniocentesis - puncture of the amniotic sac to obtain cells membrane chorion, which contains the genetic material of the fetus. Cordocentesis - puncture of the umbilical cord.

Amniocentesis can prevent the birth of a child with Friedreich's ataxia

In this way, the birth of a sick child can be prevented.

Friedreich's ataxia is a severe hereditary disease that affects many organs and systems. The approach to treatment requires coordinated actions of doctors of various specialties (neurologist, cardiologist, endocrinologist and others). Taking good care of your health will help the patient maintain their quality of life.

Main symptoms:

Friedreich's ataxia is a genetic pathology in which not only the nervous system is damaged, but also the development of extraneural disorders. The disease is considered quite common - 2–7 people per 100 thousand of the population live with this diagnosis.

The disease is genetic and is associated with chromosome mutations. Clinicians identify several specific conditions for the development of pathology.

Symptoms of the disease are specific - the first signs are considered to be impaired walking and loss of balance. The clinical picture includes speech impairment, cataracts, decreased hearing acuity, and dementia.

Only a neurologist can make a correct diagnosis based on the results of instrumental examinations. Consultation with specialists from different fields of medicine is necessary. It is worth noting that diagnosis can be performed already at the stage of intrauterine development of the fetus.

Treatment is predominantly conservative: it consists of taking medications, following a diet and regularly performing therapeutic exercises. Surgery is necessary in cases of pronounced bone deformities that reduce the quality of life.

Etiology

Hereditary Friedreich's ataxia occurs due to insufficient concentration or disruption of the structure of a protein called frataxin, which is produced in the cytoplasm intracellularly.

The main function of the substance is the transfer of iron from mitochondria - the energy organelles of the cell. Against the background of specific processes, a large amount of iron accumulates - tens of times more than the norm, which provokes an increase in the number of aggressive oxidants that damage vital cells.

An auxiliary place in the mechanism of disease development is occupied by a disorder of antioxidant homeostasis - cell protection human body from harmful reactive oxygen species.

Friedreich's ataxia can only be inherited in an autosomal recessive manner. The carrier of the mutation of the 9th chromosome is 1 person out of 120. It is noteworthy that the pathology develops only in cases where the mutant gene is inherited from both the mother and the father. It is worth noting that parents are only carriers of a gene disorder, and they themselves do not get sick.

A similar anomaly belongs to the group of ataxias, which includes the following types:

Pierre-Marie ataxia;
Louis-Bar syndrome;
cortical ataxia - provoked by disorders of the cerebral cortex responsible for voluntary movements;
vestibular ataxia is associated with damage to the vestibular apparatus, as a result of which signs of the disease include imbalance, nystagmus, nausea and vomiting, and problems with performing certain movements.

Symptoms

Friedreich's ataxia has a large number of specific clinical signs, which are usually divided into several groups:

typical or neurological;
extraneural;
atypical.

The typical form can manifest itself before the age of 20, and gender does not become a decisive factor. Experts in the field of neurology note that in women the period of manifestation of the first symptoms occurs a little later than in men.

gait disturbance and uncertainty while walking;
balance problems;
weakness and fast fatiguability lower limbs;
falling for no reason;
inability to perform a knee-heel test - a person cannot touch the elbow of his right hand to the knee of his left leg and vice versa;
blurred hand movements - tremor of outstretched limbs and changes in handwriting;
slurring and slowing of speech;
decrease or complete loss of tendon reflexes of the legs (knee and Achilles) - in some cases, occurs several years before the appearance of other signs, later reflexes are lost in the arms, in particular the flexion-elbow, extension-elbow and carporadial, and as the disease progresses, the formation of total areflexia;
decreased muscle tone;
deep sensitivity disorder - with eyes closed, a person cannot determine the direction of movement of an arm or leg;
paresis and muscle atrophy;
gradual loss of self-care skills;
incontinence or, conversely, urine retention;
decreased hearing acuity;
mental weakness.

Extraneural symptoms:

pain in the heart area;
heart rate disturbance;
shortness of breath that occurs after physical activity, and at rest;
Friedreich's foot - there is a high arch, accompanied by hyperextension of the toes in the main phalanges and flexion in the distal parts;
deformation of the fingers of the upper and lower extremities;
sexual underdevelopment;
appearance of signs;
weight gain;
in men - feminine features are noted in appearance;
among women.

Atypical Friedreich's ataxia is observed in individuals with a minor mutation of chromosome 9. This form of the disease is characterized by a later onset - at 30–50 years. This variety is distinguished by the fact that it is absent:

diabetes;
paresis;
cardiac disorders;
areflexia;
inability to self-service.

Such cases are called “late Friedreich's disease” or “Friedreich's ataxia with preserved reflexes.”

Diagnostics

Despite the fact that the pathology has specific and pronounced clinical manifestations, in some cases there are problems with establishing the correct diagnosis.

This is especially true in situations where the first signs of the disease are extra-neural symptoms - patients are mistakenly observed by a cardiologist or orthopedist for a long period of time and undergo useless diagnostic procedures.

The basis of diagnosis is instrumental examinations, however, the procedures must necessarily be preceded by activities performed directly by a neurologist:

studying family medical history;
familiarization with the patient’s life history;
assessment of reflexes and appearance limbs;
heart rate measurement;
detailed survey - to establish the first time of occurrence and determine the severity of the clinical picture.

The following instrumental procedures are the most informative:

MRI of the spinal column and brain;
neurophysiological examinations;
CT and ultrasound;
transcranial magnetic stimulation;
electroneurography;
electromyography;

Laboratory tests are of auxiliary value and are limited to a biochemical blood test.

For Friedreich's ataxia, additional consultations with the following specialists are required:

cardiologist;
endocrinologist;
orthopedist;
ophthalmologist.

Not the least important place in the diagnostic process is occupied by medical genetic counseling and comprehensive DNA diagnostics. Manipulations are carried out on blood samples of the patient, his parents, siblings.

The course of the disease can be detected even during pregnancy - Friedreich's familial ataxia in the fetus is detected by DNA tests of chorionic villi, which are performed at 8–12 weeks of gestation or by studying amniotic fluid at 16–24 weeks of gestation.

It is worth noting that Friedreich's ataxia must be differentiated from the following diseases:

funicular myelosis;
cerebellar neoplasms;
Louis-Bar syndrome;
hereditary vitamin E deficiency;
Krabbe disease;

Treatment

Timely initiation of therapy makes it possible to:

stop the progression of the pathological process;
prevent the development of complications;
maintain the ability to lead an active lifestyle for a long time.

Drug treatment is based on simultaneous administration metabolic drugs from the following groups:

cofactors of energetic enzyme reactions;
stimulators of mitochondrial respiratory chain activity;
antioxidants.

In addition, it is prescribed:

nootropic substances;
medications to improve metabolic processes in the heart muscle;
neuroprotectors;
multivitamin complexes.

Exercise therapy is of great importance - regular therapeutic exercises done on an individual basis will help:

restore coordination and muscle strength;
maintain physical activity;
eliminate pain.

Treatment involves following a gentle diet, the essence of which is to limit the consumption of carbohydrates, since their excess can provoke a worsening of symptoms.

Surgical intervention is indicated only in cases where a person has pronounced bone deformities.

Possible complications

Complete lack of therapy can lead to life-threatening complications. Among the consequences it is worth highlighting:

accession of infections;
disability;

Prevention and prognosis

Friedreich's ataxia is a disease caused by gene mutations, so it is impossible to avoid its development. To find out whether a child will be born with a similar pathology, a married couple at the stage of pregnancy planning must undergo a consultation with a geneticist and take DNA tests.

Thanks to the latest technologies for prenatal diagnosis of chromosomal mutations, carriers of the pathological gene have the opportunity to have healthy offspring.

As for the prognosis, the outcome is unfavorable. Friedreich's ataxia leads to death approximately 20 years after the onset of the first clinical symptoms. On average, every second patient with a similar diagnosis does not live to be 35 years old.

It is noteworthy that women have a more favorable prognosis - in 100% of cases they manage to live more than 20 years from the onset of the pathology, while in men the figure is only 63%.

In the absence of diabetes and heart problems, people can live to an advanced age - up to 70–80 years.

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Etiology
Symptoms
Diagnostics
Treatment
Possible complications
Prevention and prognosis

The disease is genetic and is associated with chromosome mutations. Clinicians identify several specific conditions for the development of pathology.

Etiology

Hereditary Friedreich's ataxia occurs due to insufficient concentration or disruption of the structure of a protein called frataxin, which is produced in the cytoplasm intracellularly.

An auxiliary place in the mechanism of disease development is occupied by the disorder of antioxidant homeostasis - the protection of cells of the human body from harmful reactive oxygen species.

A similar anomaly belongs to the group of ataxias, which includes the following types:

Pierre-Marie ataxia;
cerebellar ataxia;
Louis-Bar syndrome;
cortical ataxia - provoked by disorders of the cerebral cortex, which is responsible for voluntary movements;
vestibular ataxia is associated with damage to the vestibular apparatus, as a result of which signs of the disease include imbalance, nystagmus, nausea and vomiting, and problems with performing certain movements.

Symptoms

Friedreich's ataxia has a large number of specific clinical signs, which are usually divided into several groups:

typical or neurological;
extraneural;
atypical.

gait disturbance and uncertainty while walking;
balance problems;
weakness and fatigue of the lower extremities;
falling for no reason;
inability to perform a knee-heel test - a person cannot touch the elbow of his right hand to the knee of his left leg and vice versa;
blurred hand movements - tremor of outstretched limbs and changes in handwriting;
slurring and slowing of speech;

decrease or complete loss of tendon reflexes of the legs (knee and Achilles) - in some cases, occurs several years before the appearance of other signs, later reflexes are lost in the arms, in particular the flexion-elbow, extension-elbow and carporadial, and as the disease progresses, the formation of total areflexia;
decreased muscle tone;
deep sensitivity disorder - with eyes closed, a person cannot determine the direction of movement of an arm or leg;
paresis and muscle atrophy;
gradual loss of self-care skills;
incontinence or, conversely, urine retention;
nystagmus;
decreased hearing acuity;
cataract;
mental weakness.

Extraneural symptoms:

pain in the heart area;
heart rate disturbance;
shortness of breath that occurs both after physical activity and at rest;
Friedreich's foot - there is a high arch, accompanied by hyperextension of the toes in the main phalanges and flexion in the distal parts;
kyphoscoliosis;
clubfoot;
deformation of the fingers of the upper and lower extremities;
sexual underdevelopment;
the appearance of signs of diabetes;
weight gain;
hypogonadism in men - feminine features are noted in appearance;
ovarian dysfunction in women.

diabetes;
paresis;
cardiac disorders;
areflexia;
inability to self-service.

Such cases are called “late Friedreich's disease” or “Friedreich's ataxia with preserved reflexes.”

Diagnostics

Despite the fact that the pathology has specific and pronounced clinical manifestations, in some cases there are problems with establishing the correct diagnosis.

The basis of diagnosis is instrumental examinations, however, the procedures must necessarily be preceded by activities performed directly by a neurologist:

studying family medical history;
familiarization with the patient’s life history;
assessment of reflexes and appearance of the limbs;
heart rate measurement;
detailed survey - to establish the first time of occurrence and determine the severity of the clinical picture.

The following instrumental procedures are the most informative:

MRI of the spinal column and brain;
neurophysiological examinations;
CT and ultrasound;
transcranial magnetic stimulation;
electroneurography;
electromyography;

Laboratory tests are of auxiliary value and are limited to a biochemical blood test.

For Friedreich's ataxia, additional consultations with the following specialists are required:

cardiologist;
endocrinologist;
orthopedist;
ophthalmologist.

It is worth noting that Friedreich's ataxia must be differentiated from the following diseases:

funicular myelosis;
cerebellar neoplasms;
neurosyphilis;
Niemann-Pick disease;
Louis-Bar syndrome;
hereditary vitamin E deficiency;
Krabbe disease;
multiple sclerosis.

Treatment

Timely initiation of therapy makes it possible to:

stop the progression of the pathological process;
prevent the development of complications;
maintain the ability to lead an active lifestyle for a long time.

Drug treatment is based on the simultaneous use of metabolic drugs from the following groups:

cofactors of energetic enzyme reactions;
stimulators of mitochondrial respiratory chain activity;
antioxidants.

In addition, it is prescribed:

nootropic substances;
medications to improve metabolic processes in the heart muscle;
neuroprotectors;
multivitamin complexes.

Exercise therapy is of great importance - regular therapeutic exercises done on an individual basis will help:

restore coordination and muscle strength;
maintain physical activity;
eliminate pain.

Treatment involves following a gentle diet, the essence of which is to limit the consumption of carbohydrates, since their excess can provoke a worsening of symptoms.

Surgical intervention is indicated only in cases where a person has pronounced bone deformities.

Possible complications

Complete lack of therapy can lead to life-threatening complications. Among the consequences it is worth highlighting:

pulmonary and heart failure;
accession of infections;
disability;
respiratory failure.

Causes

Impaired frataxin synthesis leads to excessive iron accumulation and damage to nerve cells.

The disease is autosomal recessive in nature. This means that the development of the disease occurs if both the father and mother are carriers of the pathological gene. The mutation is located in the long arm of chromosome 9, resulting in disruption of the synthesis of the frataxin protein. This leads to an increase in iron content inside the mitochondria. A high concentration of iron promotes the formation of free radicals that destroy cell structures. The most sensitive to damage are the cells of the nervous system (mainly the posterior and lateral columns of the spinal cord, spinocerebellar tracts, sensory fibers of the peripheral nerves), myocardiocytes, the β-insular apparatus of the pancreas, rods and cones of the retina, and cells of the skeletal system.

Depending on the severity of the genetic defect, there can be both “classical” forms of the disease (with a pronounced mutation) and atypical, relatively benign syndromes.

Symptoms

Before the advent of DNA diagnostics, the clinical manifestations of Friedreich's ataxia were described only in the so-called “classical” form. After the introduction of DNA testing, it became clear to scientists that the true prevalence of the disease is much higher than previously thought. Erased, atypical forms also began to be identified.

Typical Friedreich's ataxia

The disease often debuts with disturbances in gait and balance, while the patient is unstable in the Romberg position.

Begins at the age of 10-20 years. The disease is characterized by steady progression and increasing symptoms. Women live somewhat longer, although they are susceptible to this pathology on an equal basis with men. The following neurological manifestations of the disease are distinguished:

Impaired walking and balance: initially there is uncertainty when walking, more pronounced at dusk and at night. Gradually, staggering, stumbling when walking, and even unmotivated falls occur. The patient is unstable in the Romberg position and cannot perform the knee-heel test (touch the opposite knee with the elbow);
Impaired coordination in the hands, which is accompanied by a miss during the finger-nose test, tremor of outstretched arms, and impaired handwriting;

Blurred speech, or dysarthria;
One of the most early symptoms is a decrease (or loss) of tendon reflexes from the lower extremities: knee and Achilles. Sometimes this symptom appears several years before the onset of other neurological disorders. As the disease progresses, reflexes of the upper extremities are also lost: flexion-elbow, extension-elbow, carporadial. Total areflexia develops;
Violation of deep sensitivity: vibration and joint-muscular sense. With eyes closed, disorders in the Romberg position intensify; the patient cannot determine the direction of passive movement of the limb (for example, with the patient’s eyes closed, the doctor bends or straightens any finger of the hand or foot. A patient with Friedreich’s ataxia cannot determine which finger the doctor took and what direction is the movement taking place);
Decreased muscle tone;
In advanced stages, paresis (weakness) and muscle atrophy develop. Weakness extends from the lower extremities to the upper extremities. Self-service skills are gradually lost;
Possible dysfunction of the pelvic organs (incontinence or urinary retention);
Sometimes symptoms of brain damage are added: nystagmus (tremor of the eyelid), hearing loss, mental weakness, optic nerve atrophy.

Extraneural manifestations of the disease:

Cardiomyopathy (hypertrophic or dilated) - accompanied by pain in the heart, palpitations, heart rhythm disturbances, and shortness of breath. Sometimes patients initially turn to a cardiologist only for this reason, since there are no other symptoms of Friedreich's disease. The progression of cardiomyopathy leads to heart failure, from which patients die;

Bone deformities – possible kyphoscoliosis, deformities of fingers and toes, clubfoot. Characteristic is the “Friedreich’s foot” - a high arch with hyperextension of the toes in the main phalanges and flexion in the distal ones;
Endocrine manifestations - diabetes mellitus, obesity, sexual underdevelopment (infantilism), ovarian dysfunction;
Cataract.

Most patients experience many of the symptoms listed above. Typically, a little more than 20 years pass from the initial manifestations of ataxia to death. The cause of death is pulmonary or heart failure and associated infectious complications.

Atypical forms

Develop in people with a minor mutation on chromosome 9. A later age of onset of the disease is characteristic - at the 3rd-5th decade of life. The course and prognosis for life are more favorable than with the “classical” form of Friedreich's ataxia.

In atypical forms, there is no areflexia, cardiomyopathy, or diabetes mellitus. Paresis does not develop, and the ability to self-care is maintained for a long time. Such cases are described under the name “late Friedreich’s disease”, “Friedreich’s disease with preserved reflexes”.

Diagnostics

An accurate diagnosis is established using polymerase chain reaction.

To confirm the diagnosis of Friedreich's ataxia, the doctor takes into account the autosomal recessive type of inheritance, the onset in adolescence or youth, the combination of ataxia with areflexia, impaired deep sensitivity, weakness and atrophy of the muscles of the legs and arms, skeletal deformities, endocrine disorders and cardiomyopathy.

Additional diagnostic methods are used:

MRI (magnetic resonance imaging) - even in the early stages, diffuse atrophy of the spinal cord is detected; a little later, cerebellar atrophy can be detected;
electroneuromyography - a moderate decrease in the action potential is detected motor fibers, a pronounced (up to complete disappearance) decrease in the action potential along sensitive conductors;
ECG, ultrasound of the heart, stress tests - to diagnose heart damage;
blood test for sugar and assessment of glucose tolerance - to identify hidden diabetes mellitus;
radiography of the spine;
To reliably confirm the diagnosis, DNA diagnostics is used - blood samples are subjected to polymerase chain reaction and the presence of a mutation is detected.

Today, thanks to new technologies, prenatal diagnosis of chromosomal mutations, including Friedreich's ataxia, has become possible, which allows carriers of pathological genes to have healthy offspring.

Treatment

To date, therapy for this disease is only symptomatic. Molecular geneticists are working to create drugs that will “remove” the mutation or its biochemical consequences.
Among the drugs used:

antioxidants - vitamin E and A; multivitamins are used for the same purpose (as well as general strengthening);
a synthetic analogue of coenzyme Q10 - (noben) with the aim of “slowing down” the process of degeneration in the nervous system and stopping the development of cardiomyopathy;
nootropics - piracetam, aminalon, encephabol, cerebrolysin, cytochrome C, picamilon, Semax, ginkgo biloba;
metabolites – cocarboxylase, riboxin, mildronate, cytoflavin;
botulinum toxin – for muscle spasticity.

Produced surgical correction deformities of the feet and spine. At the same time, diabetes mellitus and cardiomyopathy are treated by an endocrinologist and cardiologist. Cataracts are treated surgically by ophthalmologists.
Exercise therapy and massage are necessary for patients to maintain motor activity and muscle strength. Sometimes physical therapy allows long time eliminate muscle pain without the use of painkillers.

Educational program in neurology, lecture by Dr. med. Kotova A.S. on the topic "Friedreich's ataxia"

Signs of the disease

The main symptom of Friedreich's ataxia is unsure gait sick. He walks awkwardly, puts his feet wide and swings away from the center to the sides. As the disease progresses, coordination problems occur in the arms and muscles. chest and faces. Facial expressions change, speech slows down and becomes jerky. Tendon and periosteal reflexes decrease or disappear (first on the legs, then possibly spreading to the arms). Hearing is often reduced. Scoliosis progresses.

Causes of the disease

This type of ataxia is hereditary, chronic, and progressive. It belongs to the spinocerebellar ataxias, which are a group of diseases with similar symptoms caused by damage to the cerebellum, brain stem, spinal cord and spinal nerves, which often interferes with the correct diagnosis. However, among cerebellar ataxias, Friedreich's disease is distinguished by the presence of a recessive form, while other types are transmitted in an autosomal dominant manner. That is, a sick child is born to a couple where the parents are carriers of the pathogen, but are clinically healthy.

This ataxia is manifested by combined degeneration of the lateral and posterior columns of the spinal cord, caused by an enzyme-chemical abnormality of an unknown nature, inherited. The disease affects Gaulle's fascicles, Clark's column cells, and the posterior spinocerebellar tract.

"Disease history"

Friedreich's disease was isolated as an independent form more than 100 years ago by the German professor of medicine N. Friedreich. The disease has been actively studied since the 1860s. After it was suggested in 1982 that the cause of this ataxia was mitochondrial disorders. As a result, instead of the generally accepted name “Friedreich’s ataxia,” the term “Friedreich’s disease” was proposed as more accurately reflecting the multiplicity of manifestations of diseases - both neurological and extraneural.

Neurological symptoms

If a patient has Friedreich's ataxia, the symptoms that are most often noticed first are awkwardness and uncertainty when walking, particularly in the dark, staggering, and stumbling. Then this symptom is accompanied by incoordination of the upper limbs and weakness of the leg muscles. At the onset of the disease, changes in handwriting, dysarthria, and explosiveness and staccato are observed in speech.

Suppression of reflexes (tendon and periosteal) can be observed both during the onset of other symptoms and long before them. As ataxia progresses, total areflexia can usually be observed. Also important symptom are Babinski's symptom, muscle hypotonia, subsequently the leg muscles become weaker and atrophy.

Extraneural manifestations and other symptoms of ataxia

Friedreich's disease is characterized by skeletal deformities. Patients are susceptible to scoliosis, kyphoscoliosis, and deformities of the fingers and toes. The so-called Friedreich's foot (or Friedreich's foot) is a feature of the disease Friedreich's ataxia. Photos of such feet give a clear understanding that such a deformation is not typical for a healthy body: the toes are hyperextended in the main phalanges and bent in the interphalangeal joints with a high concave arch of the foot. The same change can occur with brushes.

Patients are also susceptible to endocrine diseases: they often have disorders such as diabetes mellitus, ovarian dysfunction, infantilism, hypogonadism, etc. On the part of the visual organs, cataracts are possible.

If Friedreich's ataxia is diagnosed, then in 90 percent of cases it will be accompanied by heart damage and the development of progressive cardiomyopathy, predominantly hypertrophic. Patients complain of pain in the heart area, palpitations, shortness of breath when physical activity etc. In almost 50 percent of patients, cardiomyopathy becomes the cause of death.

In the late stage of the disease, patients experience amyotrophy, paresis, and impaired sensitivity in the hands. There may be decreased hearing, atrophy of the optic nerves, nystagmus, sometimes the functions of the pelvic organs are disrupted and the patient suffers from urinary retention or, conversely, incontinence. Over time, patients lose the ability to walk and care for themselves without assistance. However, paralysis resulting from any type of ataxia, including Friedreich's disease, was not noted.

As for dementia, with a disease such as Friedreich's cerebellar ataxia, there is no exact data on it yet: dementia occurs in adults, it is described, but in children it is extremely rare, like mental retardation.

Complications of ataxia

Hereditary Friedreich's ataxia in most cases is complicated by chronic heart failure, as well as all types of respiratory failure. In addition, patients have a very high risk of recurrent infectious diseases.

Diagnosis criteria for Friedreich's ataxia

The main diagnostic criteria for the disease are indicated quite clearly:

inheritance of the disease occurs according to a recessive trait;
The disease begins before the age of 25, more often in childhood;
progressive ataxia;
tendon areflexia, weakness and atrophy of the muscles of the legs, and later of the arms;
loss of deep sensitivity first in the lower extremities, then in the upper;
slurred speech;
skeletal deformities;
endocrine disorders;
cardiomyopathy;
cataract;
spinal cord atrophy.

In this case, DNA diagnostics confirms the presence of a defective gene.

Establishing diagnosis

When it comes to a disease such as Friedreich's ataxia, diagnosis should include taking anamnesis, conducting a complete physical examination and studying the medical history of the patient and his family. During the examination, special attention is paid to problems with the nervous system, in particular poor balance, when the child’s gait and statics are examined, and the absence of reflexes and sensations in the joints. The patient is unable to touch the opposite knee with his elbow, misses the finger-to-nose test, and may suffer from tremors with outstretched arms.

When conducting laboratory research there is a violation of amino acid metabolism.

An electroencephalogram of the brain in Friedreich's ataxia reveals diffuse delta and theta activity and a reduction in the alpha rhythm. Electromyography reveals axonal demyelinating lesions of the sensory fibers of peripheral nerves.

Genetic testing is performed to detect the defective gene. Using DNA diagnostics, the possibility of inheriting the pathogen by other children in the family is established. Comprehensive DNA diagnostics can also be performed for the entire family. In some cases, prenatal DNA diagnosis is necessary.

When diagnosed and subsequently after diagnosis, the patient is required to regularly take X-rays of the head, spine, and chest. If necessary, computed tomography and magnetic resonance imaging are prescribed. On MRI of the brain, in this case, one can notice atrophy of the spinal cord and brain stems, the upper parts of the cerebellar vermis. Examination with ECG and EchoEG is also necessary.

Differential diagnosis

When making a diagnosis, it is necessary to differentiate Friedreich's disease from multiple sclerosis, neural amyotrophy, familial paraplegia and other types of ataxia, primarily Louis-Bar disease, the second most common ataxia. Louis-Bar disease, or telangiectasia, also begins in childhood and differs clinically from Friedreich's disease in the presence of extensive dilation of small vessels and the absence of skeletal abnormalities.

It is also necessary to distinguish the disease from Bassen-Kornzweig syndrome and ataxia caused by vitamin E deficiency. In this case, during diagnosis it is necessary to determine the vitamin E content in the blood, the presence/absence of acanthocytosis and examine its lipid spectrum.

When making a diagnosis, it is necessary to exclude metabolic diseases with an autosomal recessive type of inheritance, accompanied by other forms of spinocerebellar ataxia.

The difference between multiple sclerosis and Friedreich's disease is the absence of tendon areflexia, and there is no muscle hypotonia or amyotrophy. Also, with sclerosis, extraneural manifestations are not observed, there are no changes on CT and MRI.

Treatment of ataxia

Patients diagnosed with Friedreich's ataxia should receive treatment from a neurologist. To a greater extent, treatment is symptomatic, aimed at maximizing the relief of the manifestations of the disease. It includes general strengthening therapy, including the administration of ATP drugs, cerebrolysin, B vitamins, as well as anticholinesterase drugs. In addition, in the treatment of this ataxia, drugs with the function of maintaining mitochondria, such as succinic acid, riboflavin, vitamin E. To improve myocardial metabolism, riboxin, cocarboxylase, etc. are prescribed.

General strengthening treatment with vitamins is carried out. Treatment should be repeated periodically.

Since the main cause of pain in this disease is progressive scoliosis, patients are advised to wear orthopedic corset. If the corset does not help, a series of surgical operations(titanium rods are inserted into the spine to prevent further development scoliosis).

Ataxia prognosis

Forecast similar diseases generally unfavorable. Neuropsychiatric disorders progress slowly, the duration of the disease varies very widely, but in most cases does not exceed 20 years in 63% of men (for women the prognosis is more favorable - after the onset of the disease, almost 100% live longer than 20 years).

The causes of death are most often heart and pulmonary failure, complications from infectious diseases. If the patient does not suffer from diabetes and heart disease, his life can extend to old age, but such cases are quite rare. However, due to symptomatic treatment the quality and life span of patients may increase.

Prevention

Prevention of Friedreich's disease is based on medical genetic consultation.

Patients with ataxia are prescribed a physical therapy complex, thanks to which the muscles are strengthened and incoordination is reduced. Exercises should primarily focus on training balance and muscle strength. Exercise therapy and corrective exercises allow patients to be active for as long as possible; in addition, in this case the development of cardiomyopathy is prevented.

In addition, patients can use assistive devices to improve their quality of life - canes, walkers, strollers.

In the diet, it is necessary to reduce the consumption of carbohydrates to 10 g/kg, so as not to provoke an increase in the defect in energy metabolism.

It is also necessary to avoid infectious diseases, avoid injury and intoxication.

One of the important factors in preventing the disease is preventing the inheritance of ataxia. If possible, you should avoid the birth of children if there have been cases of Friedreich's ataxia in the family, as well as marriage between relatives.

Ataxia is a complete or partial loss of coordination of movements while maintaining muscle strength. Normally, coordination of movements is achieved through the coordinated activity of several parts of the central nervous system. But when the structures of the central nervous system are damaged, caused by a number of reasons, an autosomal recessive disease occurs, which is characterized by a disorder of motor ability.

The cause of ataxia may be heredity, cerebral stroke, or vitamin B12 hypovitaminosis. One of the types of hereditary ataxia is Friedreich's ataxia, which is associated with a mutation of the ninth chromosome and is manifested by bone deformities. The most characteristic is the so-called Friedreich's foot, when the fingers are bent at the interphalangeal joints and hyperextended at the metacarpophalangeal joints. At the same time, the foot shortens and its arch rises.

Causes

Friedreich described why ataxia is activated back in 1860: he found that a child inherits a defective gene only when both parents are its carriers. A mutation in chromosome 9 leads to disruption of the synthesis of the protein francaxin from mitochondria, which is responsible for iron transport. As a result, iron remains in the mitochondria, and the number of free radicals inside the cells increases.

Under such conditions, the most active cells of the body are damaged, and characteristic symptoms appear. Since in pathological process neurons, myocardiocytes, bone and visual cells, as well as insulin synthesizing cells are involved, then the resulting symptoms affect the corresponding organs and systems.

First of all, the peripheral and central nervous system suffers, endocrine and cardiac pathologies develop, vision is impaired, and bones are deformed. It is worth noting that a multimutation can be observed in the same gene, so the disease occurs in several forms. Friedreich's ataxia occurs in approximately 50% of all cases of ataxia and usually appears in the first 20 years of a person's life.

Sometimes the onset of pathology shifts forward several years, but such cases are extremely rare. Both men and women whose parents are carriers of the FXN gene, which controls the protein frataxin, are at risk. Representatives of the Negroid race are absolutely not susceptible to ataxia.

As ataxia progresses, the lateral and posterior columns and cords of the spinal cord, mainly the lumbosacral segments, are affected. Cells of Clark's column and posterior spinal cerebral fibers gradually die. In advanced stages, degradation of the cranial nerve nuclei, cerebellar peduncle and dentate nucleus occurs. Cells in the cerebral hemispheres may also be affected.

Medicine still does not know what causes damage to the spinal cord adductor tracts. Describing how ataxia proceeds, Friedreich also could not explain this. In addition, other vital systems are also attacked - the myocardium, endocrine cells of the pancreas, the retina of the eyes and bone structures.

The disease never goes away on its own and progresses steadily. In the absence of adequate and timely therapy, patients live no more than two decades from the onset of ataxia. And, if at first the main symptoms are limited only to uncertainty and awkwardness during movements, as well as minor speech difficulties, then developed ataxia is characterized by an almost complete loss of coordination.

As a result, a person loses the ability to move independently. In most cases, death is inevitable, but there are exceptions: in the absence of complications such as diabetes and heart disease, the patient can live quite a long time - up to 75-80 years.

Symptoms

The course of the disease can be divided into 3 stages. For initial stage The following signs are typical:

decreased reflex functions of the Achilles tendon and knee;
rheumatic heart disease;
Skeletal deformations - curvature of the spinal column, fingers and toes, formation of Friedreich's foot.

It is worth noting that the appearance of rheumatic carditis does not always mean ataxia, since it can occur as an independent disease. Therefore, the main diagnostic criterion is neurological disorders.

As the disease progresses, the above symptoms are added to:

total areflexia – complete lack of response to stimuli;
a sharp decrease in vibration and joint-muscular sensitivity;
muscle hypotonicity – decreased level of tension and resistance to movement;
Babinski's symptom - pathological extensor reflex feet, in which thumb unbends due to impact on the extreme part of the sole;
gait disturbance;
mismatch of movements;
weakness and gradual atrophy of the muscles of the lower extremities.

At the second stage, cerebellar ataxia also develops, which is characterized by an unsteady gait when a person spreads his legs wide apart for greater stability. If he walks along a narrow board or line, he swings strongly to the sides. There is significant instability when turning, and a similarity to the gait of a heavily drunk person.

Another feature cerebellar ataxia is a change in handwriting due to a violation fine motor skills– the letters become large, different in size and sweeping. Speech function is also impaired, losing its smoothness and continuity. A person pronounces words very clearly, emphasizing each syllable.

As Friedreich's ataxia progresses, tremor, or shaking of the torso and head, may occur, including involuntary movements eyeballs. Rhythmic movements of body parts cause muscle contractions, and they are characterized by high frequency and small amplitude.

9 out of 10 patients develop endocrine and cardiac pathologies, as well as cataracts. Patients with Friedreich's ataxia develop with varying frequency:

cardiomyopathy – hypertrophic and dilated;
diabetes;
hypogonadism in men;
ovarian dysfunction in women;
infantilism – slowing down of physical and mental development.

The combined deformity kyphosis + scoliosis is one of the symptoms of ataxia and can take severe forms

When cardiomyopathy appears, the patient is concerned about shortness of breath, palpitations, chest pain, coughing attacks, pallor skin, swelling of the legs, fatigue and dizziness, even fainting.

The third and final stage of ataxia is characterized by amytrophy - progressive loss muscle mass. The muscles weaken and cease to perform their functions. A disorder of deep sensitivity occurs, tendon and periosteal reflexes of both the lower and upper extremities disappear.

Due to the breakdown of the motor activity of the body, a person is no longer able to walk and take care of himself. Bone deformations intensify - the spine is curved according to the type of kyphoscoliosis with severe distortion and the formation of a hump. Hearing and vision decrease (the optic nerves atrophy), the functioning of the pelvic organs is disrupted, and dementia may develop.

Due to progressive cardiomyopathy, most patients die, and fatal outcome often leads respiratory failure, complications after infections.

Diagnostics

It is worth noting that with the advent of DNA diagnostics, it became possible to identify not only the standard form of Friedreich's ataxia, but also its atypical forms. Moreover, the number of cases turned out to be much higher than previously thought.

Some patients who inherit a mutated gene experience a minor mutation. That's why clinical picture slightly different from the generally accepted one. For example, the average age of onset of an atypical disease is between 30 and 50 years, and its course is much milder.

Many complications characteristic of classical ataxia are absent. These include loss of reflexes, cardiomyopathy and diabetes. Sensitivity also remains sufficiently high level, and the quality of life of patients is much higher.

Thanks to advances in modern medicine, it is now possible to do prenatal tests for chromosome mutations. This allows carriers of mutating genes to count on healthy offspring.

To make a diagnosis, magnetic resonance imaging is used, which shows spinal cord atrophy. Computed tomography in this case is not informative enough and can be useful only in the later stages of ataxia.

An MRI performed when ataxia has developed will show atrophy of the cerebellar pons and medulla oblongata. In the initial stages, electromyography is mandatory to determine the degree of damage to the nerve endings of the extremities.

In addition to MRI or CT, differential diagnosis includes following methods:

X-ray of the spine;
ECG and ultrasound of the heart;
load glucose test;
biochemical analysis blood;
blood for vitamin E content and acanthocytes (blood cells characterizing liver pathologies);
DNA diagnostics is carried out using the polymerase chain reaction method to detect the presence of a mutation.

A comprehensive blood test is necessary to identify possible metabolic pathologies and homeostasis disorders

Some diseases have similar symptoms, so it is necessary to undergo a full examination. This will exclude pathologies such as multiple sclerosis, Bassen-Kornzweig syndrome, as well as Krabbe and Niemann-Pick disease. In addition, with Friedreich's ataxia there are no remissions, and the density of the brain matter does not change, which is characteristic of multiple sclerosis.

Treatment

Therapy for ataxia is exclusively symptomatic and does not lead to a complete cure. However, therapeutic measures can prevent the occurrence of severe symptoms and complications.

Currently, geneticists continue to develop medicines, capable of eliminating gene mutation and its biochemical consequences. The most effective among the drugs used are mitochondrial drugs, antioxidants and chelates, which reduce the concentration of iron in mitochondria.

Coenzyme Q10 for ataxia is prescribed in high doses is a prerequisite for therapy

The complex of drugs used includes the following:

stimulators of electron transport in the respiratory chain - coenzyme Q10, succinates (substances obtained during the processing of amber);
coenzymes of enzymatic reactions of energy metabolism - nicotinamide (the most important element in the treatment of ataxia), riboflavin, thiamine, lipolic acid, biotin, carnitine;
antioxidants – vitamin E (tocopherol), Idebenone;
drugs to reduce lactic acidosis - Dimephosphone;
nootropic drugs - Piracetam, Cerebrolysin, Picamilon, Semax, etc.;
medications to normalize metabolism - Riboxin, Mildronate, Cytoflavin;
beta-adrenergic receptor blockers;
muscle relaxants – Sirdalud, Baclofen.

At muscle spasms botulinum toxin may be prescribed. Even in the complete absence of physical activity, botulinum therapy can reduce muscle hypertonicity, eliminate pain and alleviate the patient’s condition.

Among antioxidants, experts note the importance of Idebenone, an artificial drug analogue of coenzyme Q10, especially in the treatment of patients with cardiomyopathy, since the target organ of Idebenone is the cardiac myocardium

Idebenone protects cells from iron-induced damage by scavenging free radicals without reducing aconitase activity. The effect of using this drug is also in the case of complete absence in the cells of the protein frataxin.

To select the drugs needed for a particular patient, the doctor is guided by the results of a cytochemical blood test.

Scientific research continues today, and the search for effective medicinal compounds does not stop. It is believed that it is necessary to find a combination of elements that can promote the retention and growth of the frataxin protein in cells. The creation of such a drug could be a breakthrough in the treatment of Friedreich's ataxia and its complications.

It is recommended for all patients diagnosed with Friedreich's ataxia dietary food With reduced content carbohydrates according to diet type No. 9. Therapeutic gymnastics, massage, paraffin and ozokerite applications, as well as wearing high-backed orthopedic shoes are also prescribed.

If there is pronounced contracture and retraction of the Achilles tendons, surgical intervention is possible - dissection of the tendons with their subsequent plastic surgery, including the use of grafts. Surgical treatment can also be performed for severe scoliosis, which greatly helps improve pulmonary function, helps maintain balance and prolongs the patient’s life.

For muscle spasticity, the doctor may prescribe electrophoresis procedures with muscle relaxants; for paresis, electrical stimulation

Coordination problems can be treated with modern method computer stabilography using visual feedback. A computer analyzer records and analyzes the trajectory of the center of pressure that the patient exerts on the surface of the support when he is in an upright position.

The line of movement is recorded in the form of a stabilogram and takes into account the time and space factor. That is, the vibrations of the body are actually recorded and the person’s ability to maintain stability is assessed. The computer stabilography method makes it possible to successfully diagnose and treat coordination disorders.

With a disease such as ataxia, regular physical exercise is important to keep the body in good shape and reduce the intensity of the pain syndrome. It should be remembered that social adaptation is vital for all patients, because many of them are doomed to live relying on others. The help of loved ones in this case cannot be overestimated. Only they can help cope with psychological problems which inevitably occur in patients with ataxia.

Familial Friedreich's ataxia- a chronic progressive disease, the main clinical manifestation of which is ataxia, caused mainly by combined damage to the spinal systems.
The disease is hereditary and is transmitted in an autosomal recessive manner. Among the parents of patients, an increased frequency of consanguineous marriages was noted.

A characteristic pathological sign of Friedreich's ataxia is degeneration of the posterior and lateral columns of the spinal cord. Gaulle's bundles are affected to a greater extent than Burdach's bundles. The cells of Clark's columns and the posterior spinocerebellar tract starting from them suffer. Defeat pyramid paths usually begins in the lumbar region. Degeneration of the spinal tracts can be traced to the medulla oblongata. It is assumed that certain disturbances in the metabolism of amino acids and a decrease in the activity of cerebral cholinergic systems may be important in the biochemical mechanisms of the pathogenesis of the disease.

Clinical picture .

The main symptom of the disease is the gait of patients was designated by Charcot as tabetic-cerebellar. Patients walk with their legs spread wide apart, deviating from the straight direction in both directions; gait is uncertain, clumsy. Static ataxia is also observed; often noted positive symptom Romberg. As the disease progresses impaired coordination extends to the arms, chest muscles, and face.

Handwriting is disrupted, peculiar ataxic breathing disorders may develop, and facial expressions change. Speech is slow, unmodulated, jerky. There may be dysmetria, dysdiadochokinesis, various hyperkinesis, usually accompanying active movements. Muscle tone is reduced. In the later stages of the disease, lower spastic paraparesis may develop.

Characteristic and early sign illness is absence or decrease in tendon and periosteal reflexes. First of all, tendon reflexes fade away on the legs, then areflexia spreads to upper limbs. With the development of spastic paraparesis, tendon reflexes may reappear. Often, especially in the later stages of the disease, it is possible to evoke the pathological Babinski reflex, protective reflexes.

Characteristic decreased deep sensitivity. Superficial types of sensitivity are usually not affected. TO characteristic features The disease includes large-scale nystagmus.

Otoneurological examination in most cases reveals bilateral vestibular areflexia or asymmetry of reflex nystagmus. A number of patients have decreased hearing.
Optic nerve atrophy and oculomotor nerve damage unlike cerebellar ataxia, they are rare. Along with this, changes in visual evoked potentials are detected with great consistency.
In most cases, intelligence is preserved. However, mental retardation of varying degrees may occur.

On EEG - disturbance of the alpha and beta rhythm, the presence of irregular sharp waves and groups of slow oscillations.

Friedreich's ataxia is characterized by various extraneural abnormalities; the most common of them are skeletal changes and heart damage. The first are expressed in kyphoscoliosis and a characteristic change in the shape of the foot (increase in the arch and extension of the fingers, mainly the first finger in the main phalanx; a tendency to frequent dislocations of the joints).

Heart damage manifested by tachycardia, paroxysmal pain in the region of the heart, shortness of breath during physical exertion, expansion of the boundaries of the heart, and systolic murmur. The ECG shows rhythm disturbances, changes in atrioventricular and intraventricular conduction, and deformation of the atrial wave. Patients often experience birth defects hearts.

In some cases, Friedreich's ataxia is combined with which in this form of hereditary ataxia is more common than in the general population. Other endocrine disorders may include infantilism and hypogonadism. In isolated cases, Friedreich's ataxia is combined with congenital cataracts. Clinically healthy relatives of patients with Friedreich's ataxia often exhibit individual signs characteristic of the disease, primarily nystagmus and decreased or absent tendon reflexes.

Certain anomalies are characteristic of certain families. In all likelihood, they should be considered as phenotypic manifestations of heterozygous carriage of a pathological gene. However, in childhood, these signs may be the first symptoms of a developing disease.

In most cases, the disease begins at the age of 6-13 years, and is then characterized by slow but steady progression. Various infections and other harmful exogenous factors can contribute to the development of the disease and worsen its course. In some families, Friedreich's ataxia occurs atypically: along with ataxia, symptoms characteristic of cerebellar ataxia, familial spastic paraplegia, and neural amyotrophy may appear. In rare cases, the disease is inherited in an autosomal dominant manner.

At computed tomography and morphological examination may reveal cerebellar atrophy. These cases are considered as intermediate forms between these diseases; it is assumed that they are caused by independent genes.

Ataxia can be combined with pathological pyramidal symptoms when multiple sclerosis. The latter disease differs from Friedreich's disease in its later onset, remitting course, in most cases the diffuse nature of the process, as a rule, increased deep reflexes, changes in the fundus, frequent oculomotor disorders, lack of family.

Treatment is symptomatic.

Use a special system therapeutic gymnastics, aimed primarily at reducing coordination disorders. When prescribing exercises, it is necessary to take into account the possibility of cardiac pathology, in the presence of which appropriate therapy is prescribed.
Shown general strengthening agents (vitamins),
Drugs affecting tissue metabolism (piracetam, aminalon, acephen, cerebrolysin), treatment which should be repeated periodically.