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.
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.
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.
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.
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.
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, predominantly 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.
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.
The main diagnostic criteria for the disease are fairly clear:
In this case, DNA diagnostics confirms the presence of a defective gene.
When it comes to a disease like ataxiaFriedreich, the diagnosis should include a history taking, a full medical examination and a medical history of the patient and his family. Special attention during examination is paid to problems with the nervous system, in particular poor balance, when the gait and statics of the child, the lack of reflexes and sensations in the joints are examined. The patient is not able to touch the elbow of the opposite knee, he misses the fingertip test, may suffer from tremor with outstretched arms.
When conducting laboratory studies, there is a metabolic disturbance of amino acids.
Electroencephalogram of the brain in ataxiaFriedreich discovers diffuse delta and theta activity, alpha rhythm reduction. Electromyography reveals axonal-demyelinating lesions of the sensory fibers of the peripheral nerves.
To detect a defective gene is carried outgenetic testing. With the help of DNA diagnostics, the possibility of pathogen inheritance by other children in the family is established. Complex DNA diagnostics can also be performed for the whole family. In some cases, prenatal DNA diagnosis is required.
When diagnosing and further aftermaking a diagnosis, the patient is required to regularly take x-rays of the head, spine, chest. If necessary, computer and magnetic resonance imaging is prescribed. In this case, an atrophy of the trunks of the spinal cord and brain, the upper parts of the cerebellar worm, can be seen on MRI of the brain. Evaluation with ECG and Echo EG is also necessary.
When making a diagnosis is necessarydifferentiate Friedreich's disease from multiple sclerosis, neural amyotrophy, familial paraplegia and other types of ataxia, primarily Louis-Bar disease, the second most frequent ataxia. The Louis-Bar disease, or telangiectasia, also begins in childhood and is clinically different from Friedreich's disease by the extensive expansion of small vessels and the absence of skeletal abnormalities.
Также необходимо отличать заболевание от синдрома Bassena-Kornzweig and ataxia caused by a deficiency of vitamin E. In this case, in the diagnosis it is necessary to determine in the blood the content of vitamin E, the presence / absence of acanthocytosis and to study its lipid spectrum.
During diagnosis, it is necessary to exclude metabolic diseases with an autosomal recessive mode of inheritance, accompanied by spin-cerebellar ataxia of other forms.
Difference between multiple sclerosis and Friedreich's diseaseconsist in the absence of tendon areflexia, with it there is no muscular hypotension and amyotrophy. Also, in case of sclerosis, no extraneous manifestations are observed, there are no changes on CT and MRI.
Patients diagnosed with Friedreich's ataxia treatmentshould get from a neurologist. More symptomatic treatment aimed at the maximum removal of the manifestations of the disease. It includes a general strengthening therapy, including the prescription of ATP, Cerebrolysin, B vitamins, as well as 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, Riboxin, cocarboxylase, etc. are prescribed.
Conducted fortifying treatment with vitamins. 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 surgeries are performed (titanium rods are inserted into the spine to prevent further development of scoliosis).
All these measures are aimed at maintaining the condition of the patient as long as possible and stopping the progress of the disease.
Прогноз подобных заболеваний в целом 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 heart andpulmonary insufficiency, complications from infectious diseases. If the patient does not suffer from diabetes and heart disease, his life may last until advanced years, but such cases are quite rare. However, due to symptomatic treatment, the quality and duration of life of patients may increase.
Prevention of Friedreich's disease is based on medical genetic counseling.
Patients with ataxia shows physical therapycomplex, through which the muscles strengthen, reduced discoordination. Exercises in the first place should be aimed at training the balance and strength of muscles. Exercise therapy and corrective exercises allow patients to be active as long as possible, in addition, in this case, the development of cardiomyopathy is prevented.
In addition, patients can use aids to improve the quality of their lives - canes, walkers, strollers.
In the diet, it is necessary to reduce the consumption of carbohydrates to 10 g / kg in order not to provoke an increase in the energy metabolism defect.
It is also necessary to avoid infectious diseases, to prevent injuries and intoxication.
One of the important factors in preventing diseaseis to prevent the transmission of ataxia by inheritance. If possible, avoid the birth of children if the family had cases of Friedreich's ataxia, as well as marriage between relatives.
