Friedreich's ataxia: symptoms, diagnosis and treatment

Ataxia - diseases manifested indiscoordination of movement, motor impairment with a certain decrease in strength in the limbs. One type is Friedreich's family ataxia, the most common form of hereditary ataxia. It occurs from 2 to 7 people out of 100,000.

This disease usually begins in the child'sage, on the 1-2th dozen of life (although there are cases when it is found after 20 years). Usually ataxia affects several family members - brothers, sisters, and in most cases it occurs in families with a blood marriage. Symptoms appear imperceptibly, the disease progresses slowly, lasts for dozens of years and without medical care delivers considerable discomfort.

Symptoms of the disease

The main symptom of Friedreich's ataxia is the uncertaingait of the patient. He goes awkwardly, puts his feet wide and swings away from the center to the sides. When the disease progresses, coordination disorders are exposed to the hands, as well as the muscles of the chest and face. Mimicry changes, speech slows down, it becomes jerky. Tendon and periosteal reflexes tend to decrease or disappear (first on the legs, then spread to the arms). Often the hearing decreases. Progresses scoliosis.

Causes of the disease

This type of ataxia is hereditary, chronictype, progressive nature. It refers to spinocerebellar ataxia, which is a group of similar diseases, caused by the defeat of the cerebellum, brainstem, spinal cord and spinal nerves, which often prevents the correct diagnosis. However, among cerebellar ataxias, Friedreich's disease is characterized by the presence of a recessive form, while other species are transmitted by an autosomal dominant type. That is, a sick child is born in a couple where parents are carriers of the pathogen, but are clinically healthy.

This ataxia is manifested by a combineddegeneration of the lateral and posterior columns of the spinal cord caused by an enzymatic-chemical anomaly of an unknown nature transmitted by inheritance. In the disease, Gaul's beams, the Clark pillar cells and the posterior spinocerebellar path are affected.

"Disease history"

Friedreich's disease was isolated in an independentform more than 100 years ago by the German professor of medicine N. Friedreich. Since the 1860s, the disease has been actively studied. After in 1982, it was suggested that the cause of this ataxia are 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 extra-neural.

Neurological symptoms

If a patient has Friedreich's ataxia, the symptoms,which are often seen first - it's awkwardness and uncertainty when walking, in particular in the dark, staggering, stumbling. Then, the discoordination of the upper limbs, weakness of the leg muscles join this symptom. At the beginning of the disease it is possible to change the handwriting, dysarthria, in the speech there is a character of explosiveness, staccato.

The oppression of reflexes (tendon and over-taut)can be noted as during the manifestation of other symptoms, and long before them. With the progression of ataxia, it is usually possible to observe total areflexia. Also an important symptom is Babinsky's symptom, muscle hypotension, in the future the muscles of the legs become weaker, atrophy.

Extra-neural manifestations and other symptoms of ataxia

Friedreich's disease is characterized by skeletaldeformation. Patients are subject to scoliosis, kyphoscoliosis, deformities of the fingers and toes. The so-called Friedreich's foot (or Friedreich's foot) is a feature in Friedreich's ataxia. Photos of similar stops give a clear understanding that such a deformation is not characteristic for a healthy organism: fingers are re-formed 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.

Also, patients are subject to endocrine diseases: they have frequent violations such as diabetes, ovarian dysfunction, infantilism, hypogonadism, etc. Cataracts are possible on the part of the visual organs.

If Friedreich's ataxia is diagnosed, then in 90percent of cases it will be accompanied by heart disease, the development of progressive cardiomyopathy, mainly hypertrophic. Patients complain of pain in the region of the heart, palpitations, shortness of breath during exercise, etc. Almost 50 percent of patients have cardiomyopathy as the cause of death.

In the late stage of the disease, patients areamyotrophy, paresis, hand sensitivity disorders. Perhaps a decrease in hearing, atrophy of the optic nerves, nystagmus, sometimes the functions of the pelvic organs are violated and the patient suffers from a delay or, on the contrary, urinary incontinence. Over time, patients lose the ability to walk and serve themselves without outside help. Nevertheless, paralysis that occurred with any kind of ataxia, including Friedreich's disease, was not noted.

As for dementia, then with such a disease,as cerebellar ataxia Friedrejha, ​​exact data on it while is not present: at adults the dementia meets, she is described, at children happens extremely seldom, as well as intellectual backwardness.

Complications of ataxia

Friedreich's hereditary ataxia in mostof cases is complicated by chronic heart failure, as well as all kinds of respiratory failure. In addition, the risk of repeated infectious diseases is very high in patients.

Criteria for diagnosing Friedreich ataxia

The main diagnostic criteria for the disease are fairly clear:

• inheritance of the disease occurs on a recessive basis;
• the disease begins before 25 years, more often - in childhood;
• progressive ataxia;
• tendon areflexia, weakness and atrophy of leg muscles, later and arms;
• loss of deep sensitivity first of the lower extremities, then of the upper limbs;
• speech fuzziness;
• deformations of the skeleton;
• endocrine disorders;
• cardiomyopathy;
• cataract;
• atrophy of the spinal cord.

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

Establishing diagnosis

When it comes to a disease such as ataxiaFriedreich, the diagnosis should include an anamnesis, a complete medical examination and a history of the patient and his family. Particular attention is paid to problems with the nervous system, in particular bad balance, when examining the gait and statics of the child, the lack of reflexes and sensations in the joints. The patient is not able to touch the elbow of the opposite knee, misses the palcenosal test, can suffer tremor with arms outstretched.

When carrying out laboratory tests, there is a violation of the exchange of amino acids.

Electroencephalogram of the brain in ataxiaFriedreich shows a diffuse delta and theta activity, a reduction in alpha rhythm. During electromyography, axonal-demyelinating lesions of sensory fibers of peripheral nerves are revealed.

To detect a defective gene, agenetic testing. With the help of DNA diagnostics, it is possible to inherit the pathogen by other children in the family. A complex DNA diagnosis for the entire family can also be carried out. In some cases prenatal DNA diagnosis is necessary.

When diagnosed and in the future afterdiagnosis of the patient requires regular X-ray photographs of the head, spine, chest. If necessary, computer and magnetic resonance imaging are assigned. On MRI of the brain, in this case, it is possible to observe the atrophy of the trunk of the spinal cord and the brain, the upper parts of the cerebellum worm. It is also necessary to check using ECG and EchoEG.

Differential diagnostics

When making a diagnosis, it is necessaryto differentiate Friedreich's disease from multiple sclerosis, neural amyotrophy, family paraplegia and other ataxia, primarily Louis-Bar disease, the second most frequent ataxia. Louis-Bar's disease, or telangiectasia, also begins in childhood and differs clinically from Friedreich's disease by the presence of a vast expansion of small vessels, the absence of skeletal anomalies.

It is also necessary to distinguish the disease from the syndromeBassen - Kornsveig and ataxia caused by vitamin E deficiency. In this case, in the diagnosis it is necessary to determine the vitamin E content, the presence / absence of acanthocytosis and to investigate its lipid spectrum.

During the diagnosis it is necessary to exclude metabolic diseases with autosomal recessive type of inheritance, accompanied by spin-cerebellar ataxia of other forms.

The difference between multiple sclerosis and Friedreich diseaseare in the absence of tendon areflexia, with no muscle hypotension and amyotrophy. Also, with sclerosis, there are no extra-neural manifestations, no changes in CT and MRI.

Treatment of ataxia

Patients diagnosed with Friedreich's ataxiashould receive from a neurologist. To a greater extent, treatment is symptomatic, aimed at the maximum removal of manifestations of the disease. It includes general restorative therapy, including the administration of ATP, cerebrolysin, B vitamins, and anticholinesterase drugs. In addition, in the treatment of this ataxia, an important role is played by drugs with the function of maintaining mitochondria - such as succinic acid, riboflavin, vitamin E. Riboxin, cocarboxylase and others are prescribed to improve myocardial metabolism.

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

Since the disease is the main cause of pain -progressive scoliosis, patients are shown wearing an orthopedic corset. If the corset does not help, a number of surgical operations are performed (titanium rods are inserted into the spine to prevent the further development of scoliosis).

All these measures are aimed at keeping the patient's condition as long as possible and stopping the progress of the disease.

Ataxia prognosis

Forecast of similar diseases in generalis unfavorable. Neuropsychiatric disorders slowly progress, the duration of the disease varies very widely, but in most cases it 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 cardiac andpulmonary insufficiency, complications from infectious diseases. If the patient does not suffer from diabetes and heart disease, his life can last until advanced years, but such cases are quite rare. Nevertheless, due to symptomatic treatment, the quality and life span of patients may increase.

Prevention

The prevention of Friedreich disease is based on medical genetic counseling.

Patients with ataxia are shown therapeutic and athleticcomplex, due to which muscles are strengthened, discoordination is reduced. Exercises in the first place should be aimed at training the balance and strength of muscles. LFK and corrective exercises allow patients to be active for the longest time, in addition, in this case, the development of cardiomyopathy is prevented.

In addition, patients can use ancillary tools to improve their quality of life - walking sticks, walkers, strollers.

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

Also, it is necessary to avoid infectious diseases, not to allow injuries and intoxication.

One of the important factors of disease preventionis the prevention of ataxia transmission by heredity. If possible, children should be avoided if there were cases of Friedreich's ataxia in the family, as well as marriage between relatives.