Ataxia - diseases manifested in discoordination of movement, impaired motor skills with a slight decrease in strength in the limbs. One type is Friedreich's familial ataxia, the most common form of hereditary ataxia. It occurs between 2 and 7 people out of 100,000.
This disease most often begins in childhood, in the 1-2nd decade of life (although there are times when it is detected after 20 years). Usually several family members suffer from ataxia - brothers, sisters, and in most cases it occurs in families with consanguineous marriage. Symptoms appear imperceptibly, the disease progresses slowly, lasts for decades and causes significant discomfort without medical assistance.
Signs of disease
The main symptom of Friedreich's ataxia is the unsteady gait of the patient. He walks awkwardly, puts his feet wide and sweepsdeviates from the center to the sides. As the disease progresses, the hands, as well as the muscles of the chest and face, are affected by coordination disorders. Facial expressions change, speech slows down, becomes jerky. Tendon and periosteal reflexes decrease or disappear (first on the legs, then spread to the arms is possible). Hearing is often impaired. Scoliosis progresses.
Causes of disease
This type of ataxia is hereditary, chronic type, progressive. It belongs to spinocerebellar ataxias, which are a group of similarly symptomatic diseases caused by damage to the cerebellum, brainstem, 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 he althy.
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 unexplained nature, inherited. When the disease affects the bundles of Gaulle, the cells of the pillars of Clark and the posterior spinocerebellar pathway.
Case history
Friedreich's disease was singled out into 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 suggestions were made in 1982 that the cause of this ataxiaare 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 the patient has Friedreich's ataxia, the symptoms that are most often noticed first are awkwardness and uncertainty when walking, in particular in the dark, staggering, stumbling. Then this symptom is joined by discoordination of the upper extremities, weakness of the muscles of the legs. At the beginning of the disease, a change in handwriting, dysarthria is possible, in speech there is a character of explosiveness, staccato.
Inhibition of reflexes (tendon and periosteal) can be observed both during the manifestation of other symptoms, and long before them. With the progression of ataxia, total areflexia can usually be observed. Also an important symptom is Babinski's symptom, muscle hypotension, later the leg muscles become weaker, atrophy.
Extraneural manifestations and other symptoms of ataxia
Friedreich's disease is characterized by skeletal deformities. Patients are prone 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 disease. Photos of such feet give a clear understanding that such a deformity is not typical for a he althy body: the fingers are overbent in the main phalanges and bent in the interphalangeal joints with a high concave arch of the foot. The samechange can happen with brushes.
Also, patients are prone to endocrine diseases: they often have such disorders as diabetes mellitus, ovarian dysfunction, infantilism, hypogonadism, etc. Cataracts are possible from the organs of vision.
If Friedreich's ataxia is diagnosed, then in 90 percent of cases it will be accompanied by heart damage, the development of progressive cardiomyopathy, mainly hypertrophic. Patients complain of pain in the heart, palpitations, shortness of breath on exertion, etc. In almost 50 percent of patients, cardiomyopathy causes death.
In the late stage of the disease, patients have amyotrophy, paresis, impaired hand sensitivity. Hearing loss, atrophy of the optic nerves, nystagmus are possible, the functions of the pelvic organs are sometimes disturbed and the patient suffers from urinary retention or, conversely, urinary incontinence. Over time, patients lose the ability to walk and serve themselves without assistance. However, paralysis due to any type of ataxia, including Friedreich's disease, has not been noted.
As for dementia, with such a disease as Friedreich's cerebellar ataxia, there are no exact data on it yet: dementia occurs in adults, it is described, but in children it is extremely rare, as well as mental retardation.
Complications of ataxia
Friedreich's hereditary ataxia in most cases is complicated by chronic heart failure, as well as all types of respiratory failure. In addition, patients have a very highrisk of re-infection.
Criteria for the diagnosis of Friedreich's ataxia
The main diagnostic criteria for the disease are clearly stated:
- disease inheritance is recessive;
- disease begins before the age of 25, more often in childhood;
- progressive ataxia;
- tendon areflexia, weakness and atrophy of the muscles of the legs, later and hands;
- loss of deep sensation first in the lower extremities, then in the upper ones;
- slurred speech;
- skeletal deformities;
- endocrine disorders;
- cardiomyopathy;
- cataract;
- spinal cord atrophy.
At the same time, DNA diagnostics confirms the presence of a defective gene.
Diagnosis
When it comes to a disease such as Friedreich's ataxia, diagnosis should include taking an anamnesis, conducting a complete medical examination and studying the medical history of the patient and his family. Particular attention during the examination is paid to problems with the nervous system, in particular, poor balance, when the gait and statics of the child are examined, the absence of reflexes and sensations in the joints. The patient is unable to touch the opposite knee with the elbow, misses the finger-nose test, and may suffer from tremors when the arms are outstretched.
During laboratory studies, there is a violation of amino acid metabolism.
Electroencephalogram of the brain with Friedreich's ataxia reveals diffuse delta andtheta activity, alpha rhythm reduction. Electromyography reveals axonal-demyelinating lesions of sensory fibers of peripheral nerves.
Genetic testing is done to detect the defective gene. With the help of DNA diagnostics, the possibility of inheriting the pathogen by other children in the family is established. Comprehensive DNA diagnostics for the whole family can also be carried out. In some cases, prenatal DNA testing is needed.
When diagnosing and in the future after diagnosis, the patient is required to regularly take x-rays of the head, spine, chest. If necessary, computed and magnetic resonance imaging is prescribed. On MRI of the brain, in this case, one can notice atrophy of the spinal cord and brain stems, the upper sections of the cerebellar vermis. An examination with the help of 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-Bahr disease, or telangiectasia, also begins in childhood and differs clinically from Friedreich's disease in the presence of extensive dilation of small vessels, the absence of skeletal anomalies.
It is also necessary to distinguish the disease from the Bassen-Kornzweig syndrome and ataxia caused by vitamin E deficiency. In this case, the diagnosis must be determined in the bloodvitamin E content, presence/absence of acanthocytosis and to study its lipid spectrum.
At the time of diagnosis, it is necessary to exclude metabolic diseases with autosomal recessive inheritance, accompanied by other forms of spino-cerebellar ataxia.
The difference between multiple sclerosis and Friedreich's disease is the absence of tendon areflexia, with it there is no muscle hypotension and amyotrophy. Also, with sclerosis, extraneural manifestations are not observed, there are no changes on CT and MRI.
Axia treatment
Patients diagnosed with Friedreich's ataxia should be treated by a neurologist. To a greater extent, treatment is symptomatic, aimed at maximizing the removal of the manifestations of the disease. It includes general strengthening therapy, including the appointment of ATP preparations, cerebrolysin, B vitamins, and anticholinesterase agents. In addition, drugs with the function of maintaining mitochondria, such as succinic acid, riboflavin, vitamin E, play an important role in the treatment of this ataxia. Riboxin, cocarboxylase, etc. are prescribed to improve myocardial metabolism.
Fortifying treatment with vitamins. 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 series of surgical operations are performed (titanium rods are inserted into the spine to prevent further development of scoliosis).
All these measures are aimed atkeep the patient's condition as long as possible and stop the progress of the disease.
Axia prognosis
The prognosis of such diseases is 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 most common causes of death are heart and lung failure, complications from infectious diseases. If the patient does not suffer from diabetes and heart disease, his life can last up to advanced years, but such cases are quite rare. Nevertheless, due to symptomatic treatment, the quality and life expectancy of patients can increase.
Prevention
Prevention of Friedreich's disease is based on medical genetic counseling.
Patients with ataxia are shown a physiotherapy complex, due to which muscles are strengthened, discoordination is reduced. Exercises should primarily be aimed at training balance and muscle strength. Physical 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, wheelchairs.
In the diet, it is necessary to reduce the intake of carbohydrates to 10 g / kg, so as not to provokestrengthening of the energy metabolism defect.
It is also necessary to avoid infectious diseases, injuries and intoxication.
One of the important factors in the prevention of the disease is the prevention of the transmission of ataxia by inheritance. If possible, the birth of children should be avoided if the family had cases of Friedreich's ataxia, as well as marriage between relatives.
