Friedreich's ataxia: symptoms, diagnosis and treatment

Ataxia - a disease manifested in discoordination 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 childhood, 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.

Signs of the disease

The main sign of Friedreich's ataxia is the patient's unsteady gait. 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, of a chronic type, of a 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 combined degeneration of the lateral and posterior columns of the spinal cord caused by an enzymatic-chemical anomaly of an unknown nature that is inherited. In the disease, Gaul's beams, the Clark pillar cells and the posterior spinocerebellar path are affected.

"History of the disease"

Friedreich disease was isolated in an independent form 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 of

If the patient has Friedreich's ataxia, the symptoms that are most often seen first are discomfort 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 inhibition of reflexes( tendon and superficial) can be noted both 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.

Extranormal manifestations and other ataxia symptoms

Friedreich disease is characterized by skeletal deformities. 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.

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

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

In the late stage of the disease, patients have amyotrophies, paresis, and 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, with such a disease as Friedreich's cerebellar ataxia, accurate data on it yet: in adults, dementia occurs, it is described, in children it is extremely rare, as is mental retardation.

Complications of ataxia

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

Criteria for diagnostics of Friedreich ataxia

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

• inheritance of the disease occurs on a recessive basis;
• 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 upper;
• speech fuzziness;
• deformation of the skeleton;
• endocrine disorders;
• cardiomyopathy;
• cataract;
• atrophy of the spinal cord.

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

Diagnosis of

When it comes to a disease such as Friedreich's ataxia, 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.

During laboratory tests, there is a violation of amino acid metabolism.

An electroencephalogram of the brain with Friedreich ataxia exhibits diffuse delta and theta activity, a reduction in alpha rhythm. During electromyography, axonal-demyelinating lesions of sensory fibers of peripheral nerves are revealed.

Genetic testing is performed to detect a defective gene. 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 whole family can also be carried out. In some cases prenatal DNA diagnosis is necessary.

When diagnosed and later after diagnosis, the patient is required to regularly take 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 diagnosis of

When diagnosing, it is necessary to 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 Bassen-Kornzweig syndrome and ataxia caused by vitamin E deficiency. In this case, in the diagnosis it is necessary to determine the content of vitamin E in the blood, 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 spinal-cerebellar ataxia of other forms.

The difference between multiple sclerosis and Friedreich disease lies 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 ataxia should receive treatment 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. To improve myocardial metabolism, prescribe riboksin, kokarboksilazu, etc.

A restorative treatment with vitamins is performed. Treatment should be repeated periodically.

Since the main cause of pain in the disease is 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

The prognosis of such diseases is generally 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 and pulmonary 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

Prevention of Friedreich disease is based on medical genetic counseling.

Patient ataxia shows a therapeutic and sports complex, through 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 the diet, it is necessary to reduce the intake of carbohydrates to 10 g / kg, so as not to cause an increase in the defect in the energy metabolism.

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

One of the important factors of disease prevention is 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.