Loading form..." data-toggle="modal" data-form-id="42" data-slogan-idbgd="7313" data-slogan-id-popup="10619" data-slogan-on-click= "Get prices at the clinic AB_Slogan2 ID_GDB_7313 http://prntscr.com/nvtslo" class="center-block btn btn-lg btn-primary gf-button-form" id="gf_button_get_form_0">Get prices at the clinic

Symptoms and course of the disease

Symptoms of Friedreich's ataxia most often appear in the first and second decades of life, and occasionally in the third and fourth decades.

1. There is uncertainty, staggering, stumbling when walking, frequent falls, handwriting is impaired due to tremor, dysarthria appears, weakness in the legs, and hearing is impaired.
2. Tendon and periosteal reflexes (primarily Achilles and knee) disappear.
3. Sometimes early symptom There may be rheumatic carditis, which is treated as an independent disease.
4. Patients do not perform the heel-knee test, swaying in the Romberg position appears, which intensifies when closing the eyes, and sitting disorders.
5. Babinski's sign.
6. Often nystagmus.
7. Deep sensitivity is gradually impaired, muscle atrophy increases, in the initial stages it is more pronounced in lower limbs, as the disease progresses, it also affects the upper ones.
8. Total areflexia is formed.
9. The optic nerve atrophies, cataracts develop, which leads to blindness, the function of the pelvic organs is disrupted, and dementia develops.
10. Are developing endocrine disorders: diabetes mellitus, hypogonadism, infantilism, ovarian dysfunction.
11. Cardiomyopathies.
12. Skeletal deformities: curvature of the spine, kyphoscoliosis, “Friedreich’s foot” (high concave arch of the foot with hyperextension of the toes in the main phalanges and flexion in the distal phalanges), deformation of the fingers and toes, clubfoot.

The course of the disease is steadily progressive, in the absence of adequate treatment, the duration of the disease usually does not exceed 20 years. The immediate cause of death may be cardiac or pulmonary failure, infectious complications. In rare cases, in the absence diabetes mellitus and heart disorders, patients live up to 70-80 years. The prognosis is more favorable in women: 100% of women and only 63% of men live more than 20 years from the onset of the disease.

The best public clinics in Israel

The best private clinics in Israel

Treatment of the disease

Adequate and regular treatment of Friedreich's ataxia allows you to stop the progression of the disease, avoid complications, long time maintain the patient's ability to lead an active lifestyle.

As a rule, ataxia Friedreich and is treated by the simultaneous administration of metabolic drugs belonging to 3 different groups: cofactors of energetic enzyme reactions, stimulators of mitochondrial respiratory chain activity and antioxidants.

Additionally, for Friedreich's ataxia, medications are prescribed that improve metabolic processes in the heart muscle (cocarboxylase, riboxin, preductal, 5-hydroxyprofan, etc.), nootropics and neuroprotectors (aminalon, piracetam, acephen, cerebrolysin, encephabol), and multivitamins.

Massage and physical therapy. Regular physical therapy sessions aimed at training coordination and muscle strength make it possible to maintain motor activity and stop emerging problems. painful sensations. Children with FA can stay active as long as possible through physical therapy and corrective exercise routines that focus on balance and muscle strength. Cardiomyopathy does not develop with this exercise program.

Physiotherapeutic procedures such as thermal procedures (ozokerite, paraffin) on the area of ​​the forearms and shins, and electrical stimulation of muscles have a good effect.

Since Friedreich's ataxia is accompanied by a violation energy metabolism, then patients with this disease need to limit the intake of carbohydrates from food, an excess of which can provoke a worsening of metabolic disorders.

A person suffering from Friedreich's ataxia needs some surgical interventions (mainly for the spine and heart). Titanium screws and rods are inserted into the spine to help prevent or slow the progression of scoliosis. The goal of the operation is to preserve the patient's condition for as long as possible. In many cases, the patient develops heart disease. These diseases can be treated with medication.

In some cases, surgical correction of foot deformities and injection of botulinum toxin into spastic muscles are performed.

Patients need social adaptation, since many have to live in a state of complete helplessness. Loss of vision, the ability to move independently, and impaired coordination create psychological disorders that must be eliminated with the help of specialists and the support of loved ones.

To stop the progression of ataxia, assistive devices such as a cane, walker, or wheelchair. Rehabilitation measures include a number of physical and therapeutic activities.

Diagnosis of the disease

Computed tomography brain, which remains the main diagnosis of ataxia in this disease, is ineffective; a number of changes can be detected only in the later stages. This is due to the spinal localization of changes, so it is possible to detect only a weak degree of cerebellar atrophy on early stage and atrophy of the hemispheres, expansion of the stem cisterns, lateral ventricles and subarachnoid space of both hemispheres in later stages.

Early diagnosis of Friedreich's ataxia is made using MRI, which makes it possible to detect atrophy spinal cord, and at the advanced stage, moderate atrophy of the pons, cerebellum and medulla oblongata.

On initial stage An electrophysiological study is required; during such studies, the severity of damage to the sensitivity of the nerves of the limbs is established.

For a complete diagnosis, stress glucose tolerance tests are performed, X-ray examination spine.

First of all, diagnostics is aimed at accurately establishing a diagnosis and differentiating the disease from others with similar symptoms. For example, the symptoms of Friedreich's ataxia may be the same as those of hereditary ataxia due to vitamin E deficiency, Bassen-Kornzweig syndrome, hereditary metabolic diseases such as Krabbe disease and Niemann-Pick disease. Similar symptoms may occur with multiple sclerosis, with the exception of tendon areflexia, muscle hypotonia and extraneural manifestations. It is not typical for Friedreich's ataxia to have remissions and changes in the density of brain matter, which is observed during diagnosis multiple sclerosis.

To differentiate the disease, a number of additional laboratory research. DNA testing and medical genetic counseling and research are carried out lipid profile blood, blood smear analysis for the presence of vitamin E and acanthocyte deficiency.

Treatment of Friedreich's ataxia does not lead to full recovery, but timely prevention makes it possible to avoid the development of many symptoms and complications. Diagnosis of Friedreich's ataxia using DNA testing should be prescribed not only to the patient, but also to relatives to determine the heredity of the disease, this is necessary for the purposes of prevention and prescribing preventive therapy.

Friedreich's ataxia is an autosomal recessive pathology, when an affected child is born to a visually healthy couple, but one of the parents is the owner of the disease-causing gene. The disease is expressed in damage nerve cells– predominant damage to the Gaulle bundles, pyramidal tracts, roots and peripheral nerve fibers, neurons of the cerebellum, and brain. Other organs may be affected at the same time: the process involves cellular structures cardiac muscle, pancreas, retina and musculoskeletal system.

ICD-10 code

G11 Hereditary ataxia

Epidemiology

According to information from the world medical statistics, Friedreich's ataxia is the most common type of ataxia. This disease affects an average of 2-7 patients per 100,000 people, and one person out of 120 is a carrier of the gene disorder.

Both men and women are susceptible to the disease. However, the disease does not affect people of Asian and Black races.

Causes of Friedreich's ataxia

Hereditary Friedreich's ataxia develops due to a deficiency or disruption of the structure of the protein frataxin, produced intracellularly in the cytoplasm. The function of the protein is to transport iron from the energy organelles of the cell - mitochondria. The iron accumulation capacity of mitochondria is determined by active processes oxidation in them. When the concentration of iron in mitochondria increases more than tenfold, the amount of total intracellular iron does not exceed normal limits, and the amount of cytoplasmic iron decreases. In turn, this provokes stimulation of gene structures that encode enzymes that transport iron - these are ferroxidase and permease. As a result, the iron balance inside the cells is even more noticeably disrupted.

An increased amount of iron inside mitochondria causes an increase in the number of aggressive oxidants - free radicals, damaging vital structures (in in this case, cells).

A disorder of antioxidant homeostasis—the protection of human cells from harmful reactive oxygen species—can play an auxiliary role in the etiology of the disease.

Symptoms of Friedreich's ataxia

Friedreich's familial ataxia, as we said above, is hereditary disease. However, the first signs of the disease appear only at the age of 8-23 years. At the same time primary clinic clearly associated with ataxia, which affects a person's gait. The patient becomes unsteady when walking, unsteadiness and weakness appear in the legs (the legs seem to get tangled). There are difficulties in coordinating movements. Gradually, a person begins to experience difficulties with pronunciation.

Signs of Friedreich's ataxia tend to intensify if the eyes are closed.

Over time, the symptoms become permanent, moreover, the severity clinical manifestations is growing. The reason for this is damage to the cerebellum, which is responsible for coordinating the movements of the limbs.

Further, the patient develops hearing and visual functions. An important sign appears - a decrease or loss of natural reflexes and the appearance of pathological ones, for example, the Babinsky reflex is observed. Sensitivity in the limbs decreases: the patient loses the ability to feel objects in the palms and support under the feet.

Over time, movement disorders in the form of paralysis or paresis are recorded. Such problems begin with damage to the legs.

Mental abilities are usually not impaired. The disease grows gradually over decades. Sometimes you can even notice short-term stable periods.

Among accompanying symptoms It should be noted that there is a change in the shape of the bones of the skeleton: this is especially noticeable on the hands and feet, as well as on the spinal column. Heart problems appear, diabetes mellitus, and vision damage may develop.

Diagnosis of Friedreich's ataxia

Diagnosis of the disease can present certain difficulties, because in the initial stages, many patients seek help from a cardiologist due to heart problems, or to an orthopedist due to pathology osteoarticular system or spine. And only when the neurological picture appears, patients find themselves in the office of a neurologist.

The main instrumental diagnostic methods for Friedreich's ataxia, MRI and neurophysiological testing are considered.

Brain tomography helps determine atrophy of some of its areas, in particular the cerebellum and medulla oblongata.

Tomography of the spinal column determines changes in structure and atrophy - these symptoms are more noticeable in the later stages of the disease.

The conductive function is examined using the following methods:

• transcranial magnetic stimulation;
• electroneurography;
• electromyography.

In case of extraneural signs, auxiliary diagnostics are carried out: cardiovascular, endocrine and musculoskeletal system. Additionally, consultation with specialists such as a cardiologist, orthopedist, ophthalmologist, or endocrinologist may be required. A number of studies are being carried out:

• blood glucose level, glucose tolerance test;
• determination of hormone levels in the blood;
• electrocardiography;
• load tests;
• ultrasound examination hearts;
• X-ray of the spine.

Particular importance in diagnosing ataxia is given to medical genetic consultation and comprehensive DNA diagnostics. It is carried out on materials from the patient himself, his closest relatives and parents.

In pregnant women, Friedreich's ataxia in the unborn child can be determined by DNA analysis of chorionic villi from the eighth to twelfth week of gestation, or by analysis amniotic fluid from 16 to 24 weeks.

Friedreich's ataxia is differentiated from hereditary tocopherol deficiency, with hereditary pathologies metabolic processes, with neurosyphilis, with neoplasms of the cerebellum, multiple sclerosis, etc.

Treatment of Friedreich's ataxia

Treatment of the disease cannot lead to healing, but in this way it is possible to prevent the development of some consequences and difficulties. In order to slow down the increase in symptoms of the disease, medications of the mitochondrial group, antioxidants and other drugs that reduce the concentration of iron inside the mitochondria are used.

Medicines are usually prescribed in combination, at least 3 drugs at the same time. Antioxidants are used, for example, tocopherol and retinol, as well as an artificial analogue of coenzyme Q 10 (idebenone), which inhibits neurodegenerative processes and the increase in myocardial hypertrophy - cardiomyopathy.

In addition, for treatment they use drugs that improve metabolic processes in the heart muscle: it is recommended to take riboxin, preductal, cocarboxylase, etc.

In most cases, 5-hydroxyprofane is prescribed, the effect of which is noticeable, but this drug has not been fully studied.

Auxiliary treatment is prescribed according to the symptoms - for example, antidiabetic drugs, cardiovascular drugs are used.

Conduct general restorative therapy ( vitamin complexes), improvement of tissue metabolism (piracetam, Cerebrolysin, aminalon).

According to indications, surgical intervention in the form of correction of the shape of the feet and the use of Botox in the muscles affected by spasm are possible.

Physiotherapeutic procedures and gymnastics can significantly improve the effectiveness of treatment. But for a lasting effect, classes and sessions must be regular, with an emphasis on training balance and muscle strength.

Since Friedreich's ataxia is the result of gene disorders, which cannot be a reversible condition, folk recipes in treatment of this disease don't work.

In the diet, patients with ataxia should reduce or eliminate the consumption of carbohydrate foods, since the disease is associated with an excess of energy in the cells. Large quantity carbohydrate foods (sweets, sugar, baked goods) can lead to a worsening of the patient’s condition.

Prevention

A special role in prevention is given to DNA testing at the initial presymptomatic stages, for the timely start of preventive treatment.

Direct relatives of an already identified sick person are definitely examined. Initially, the disease may be suspected by clinical signs: the appearance of ataxia, decreased muscle tone, sensitivity disorders, disappearance of tendon reflexes, development of paresis, polyneuropathy, signs of disease on the ECG, the occurrence of diabetes mellitus, changes in the osteoarticular system, atrophic processes (in particular in the optic nerves), curvature of the spinal column and Ave.

Required periodic control and observation of a neurologist, endocrinologist. Big preventive value It is also given to therapeutic exercises and physiotherapeutic treatment.

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.

Reasons

Friedreich described why ataxia is activated back in 1860: he found that a child inherits a defective gene only if 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 features. 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 may also be damaged cerebral hemispheres brain.

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 important systems– myocardium, endocrine cells of the pancreas, retina 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;
• sharp decline vibration and joint-muscular sensitivity;
• muscle hypotonicity – decreased level of tension and resistance to movement;
• Babinski's symptom is a pathological extensor reflex of the foot, 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 unsteady gait when a person spreads his legs wide 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 of cerebellar ataxia is a change in handwriting due to impaired fine motor skills - 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, tremors, or shaking of the torso and head, including involuntary movements, may occur. 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. In patients with Friedreich's ataxia with different frequencies develop:

• cardiomyopathy – hypertrophic and dilated;
• diabetes mellitus;
• 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.

For the third, last stage 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 limbs.

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.

Dies due to progressive cardiomyopathy most sick, to 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. So, for example, middle age The onset of the atypical disease occurs 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 the achievements modern medicine, these days it is 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 extent of damage nerve endings limbs.

In addition to MRI or CT, differential diagnosis includes the 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 method chain reaction to detect the presence of a mutation.

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

Some diseases have similar symptoms, so you need to undergo 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

Treatment of ataxia is purely symptomatic and does not lead to 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- This prerequisite 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.

For 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 also exists in the case of the complete absence of frataxin protein in the cells.

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, 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 a reduced carbohydrate content according to diet type No. 9. Also appointed therapeutic exercises, massage, paraffin and ozokerite applications, as well as wearing high-backed orthopedic shoes.

If there is severe contracture and retraction of the Achilles tendons, it is possible to surgical intervention– dissection of 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 a vertical 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 intensity pain syndrome. It should be remembered that all patients need vital social adaptation, 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.

• What is Friedreich's disease
• Symptoms of Friedreich's Disease
• Diagnosis of Friedreich's disease
• Treatment of Friedreich's Disease

What is Friedreich's disease

Familial Friedreich's ataxia- hereditary degenerative disease nervous system, characterized by a syndrome of damage to the posterior and lateral cords of the spinal cord. The type of inheritance is autosomal recessive, with incomplete penetrance of the pathological gene. Men and women get sick equally often.

What causes Friedreich's disease?

Friedreich's disease- the most common form of hereditary ataxia, the prevalence is 2 - 7 per 100,000 population. The type of inheritance is autosomal recessive. The Friedreich's disease gene was mapped to the centomeric region of chromosome 9 at the 9ql3 - q21 locus. It is assumed that classical and atypical shape Friedreich's disease can be caused by different (two or more) mutations of the same gene. Mapping of the Friedreich's disease gene led to the development of methods for indirect DNA diagnosis of the disease (including early and prenatal diagnosis) and diagnosis of heterozygous carriage of the mutant gene.

Pathogenesis (what happens?) during Friedreich's disease

Degenerative changes are detected in the conductive tracts of the posterior and lateral cords of the spinal cord, mainly the Gaulle bundles, to a lesser extent - Burdach, Flexig, Gowers, fibers pyramid path, dorsal roots, as well as in the cells of the cerebellar cortex, subcortical ganglia, and cerebral cortex.

Symptoms of Friedreich's Disease

The first symptoms of the disease most often occur in the prepubertal period. They are characterized by a combination of typical neurological and extraneural manifestations. The disease usually manifests itself with the appearance of awkwardness and uncertainty when walking, especially in the dark; patients begin to stagger and often stumble. Soon, ataxia when walking is accompanied by incoordination in the hands, changes in handwriting, and weakness in yoga. Already at the very beginning of the disease, dysarthria may be noted. An early and important differential diagnostic sign of Friedreich's disease is the disappearance of tendon and periosteal reflexes. Suppression of reflexes (primarily Achilles and knee) can precede the manifestation of other symptoms of the disease by several years and be the most early manifestation neurological dysfunction. In the advanced stage of the disease, patients usually experience total areflexia. Typical neurological manifestation Friedreich's disease is a violation of deep (articular-muscular and vibration) sensitivity. Quite early in patients with neurological examination Babinski's sign and muscle hypotonia may be detected. As the disease progresses, cerebellar and sensory ataxia, weakness and atrophy of the leg muscles gradually increase. In the late stage of the disease, amyotrophy and deep sensitivity disorders that spread to the hands are common. Patients stop walking and caring for themselves due to the profound breakdown of motor functions. In some cases, nystagmus, hearing loss, and atrophy are observed optic nerves; with a long course of the disease, dysfunction of the pelvic organs and dementia are noted.

Among the extraneural manifestations of Friedreich's disease, it is necessary to highlight cardiac damage, which, according to our data, occurs in more than 90% of patients. The development of a typical progressive cardiomyopathy is characteristic. Cardiomyopathy is predominantly hypertrophic in nature, but in in some cases, as follows from our observations, the development of dilated cardiomyopathy is possible. It is possible that these heart changes in Friedreich's disease are different stages of the same process. Cardiomyopathy is manifested by pain in the heart area, palpitations, shortness of breath during physical activity, systolic murmur and other symptoms. In more than half of patients, cardiomyopathy is the direct cause of death. Corresponding changes are usually detected on the ECG (arrhythmia, T wave inversion, conduction changes) and echocardiography. In some cases, clinical and electrocardiographic symptoms of cardiac damage sometimes precede the appearance of neurological disorders by several years. Patients are observed for a long time by a cardiologist or local physician, most often with a diagnosis of rheumatic heart disease.

Another characteristic extraneural manifestation of Friedreich's disease is skeletal deformities: scoliosis, “Friedreich's foot” (high concave arch of the foot with hyperextension of the fingers in the main phalanges and flexion in the distal phalanges), deformation of the fingers and toes, etc. These disorders can also appear long before the development of the first neurological symptoms.

Extraneural manifestations of Friedreich's disease include endocrine disorders (diabetes mellitus, hypogonadism, infantilism, ovarian dysfunction), cataracts. It is generally accepted that extraneural signs of Friedreich's disease are a manifestation of the pleiotropic effect of one mutant gene.

Friedreich's disease is characterized by a steadily progressive course, the duration of the disease usually does not exceed 20 years. The immediate causes of death may be heart and pulmonary failure, infectious complications.

Diagnosis of Friedreich's disease

Electrophysiological studies are informative for diagnosing Friedreich's disease. The electroneuromyographic pattern characteristic of this disease is the absence or significant decrease in the amplitude of action potentials sensory nerves limbs, with a relatively small decrease in the speed of impulse transmission along the motor nerves. Even in the initial stage of Friedreich's disease, it is necessary to use electrocardiography and echocardiography, examine the blood glucose level with special stress tests of glucose tolerance (to exclude diabetes mellitus), and also conduct an X-ray examination of the spine (characterization of bone deformations).

Treatment of Friedreich's Disease

Apply symptomatic remedies: restorative drugs, physical therapy, massage. In some cases, surgical correction of foot deformities is performed.

Which doctors should you contact if you have Friedreich's disease?

Neurologist

Promotions and special offers

Medical news

14.10.2019

On October 12, 13 and 14, Russia is hosting a large-scale social event for free blood clotting testing - “INR Day”. The campaign is timed to coincide with World Thrombosis Day. 04/05/2019

The incidence of whooping cough in the Russian Federation in 2018 (compared to 2017) increased almost 2 times 1, including in children under the age of 14 years. Total number registered cases of whooping cough for January-December increased from 5,415 cases in 2017 to 10,421 cases for the same period in 2018. The incidence of whooping cough has been steadily increasing since 2008...

20.02.2019

Chief children's phthisiatricians visited school No. 72 in St. Petersburg to study the reasons why 11 schoolchildren felt weak and dizzy after they were tested for tuberculosis on Monday, February 18

Medical articles

Almost 5% of all malignant tumors constitute sarcomas. They are highly aggressive, rapidly spread hematogenously, and are prone to relapse after treatment. Some sarcomas develop for years without showing any signs...

Viruses not only float in the air, but can also land on handrails, seats and other surfaces, while remaining active. Therefore, when traveling or public places It is advisable not only to exclude communication with other people, but also to avoid...

Return good eyesight and say goodbye to glasses forever contact lenses- the dream of many people. Now it can be made a reality quickly and safely. New features laser correction vision is opened by the completely non-contact Femto-LASIK technique.

Cosmetics designed to care for our skin and hair may actually not be as safe as we think