Hereditary ataxias


  • Family Friedreich's ataxia
  • Marie's ataxia
  • Ataxia telangiectasia Louis-Bar

  • Ataxia can develop in some inherited diseases such as familial Friedreich's ataxia, hereditary cerebellar ataxia, Pierre Marie, Louis-Bar syndrome and other diseases.

    Family Friedreich's ataxia

    Hereditary ataxiasFamily Friedreich's ataxia - a chronicprogressive hereditary disease, which is characterized by poor coordination of movements, having the features of sensitivity and cerebellar ataxia. Most ill males. The disease begins in childhood or young age (in most cases, 6-15 years). Expressed coordination of movements: they are sweeping, sharp, man can not get his hand to a specified point, shake hands, especially when approaching the target. When people walk raises high leg bent at the knee, dramatically puts it on the ground (walking stamp). When closing the eye manifestations ataxia worse. Almost constantly celebrated twitching eye. Some patients experience any hearing loss. Often reveals a decrease of intelligence. Along with ataxia, a change of foot structure, curvature of the spine, disorders of the heart.

    Treatment of Friedreich's ataxia is held 2-3 times ayear, fortifying agents include; Dibazolum, drugs that improve brain function and muscle; physiotherapy exercises, including special exercises for coordination, massage; orthopedic treatment.

    Marie's ataxia

    Hereditary cerebellar ataxia Pierre Marie -chronic progressive hereditary disease. It begins between ages 20 and 45 years. Characteristic features are static and dynamic cerebellar ataxia. The person loses the ability to hold the pose, disturbed coordination of movements. Movement becomes sweeping, sharp, accurate. Hands shaking with purposeful movement. In addition there is a decrease in strength of muscles, usually the legs, often enough noted a decrease in visual acuity. Intelligence is usually reduced. Treatment of the disease is the same as in Friedreich's ataxia.

    Ataxia telangiectasia Louis-Bar

    Ataxia telangiectasia Louis-Bar (Louis-Bar syndrome)- A disease in which there is a combination of ataxia, impaired immunity, increased propensity to infections. The disease manifests itself in age from 5 months to 3 years has been steadily progressive cerebellar ataxia. Violations coordination with are the same as for other hereditary ataxia. Later joined by other signs of damage to the nervous system: the impoverishment mimicry, involuntary movements of the fingers, the monotony of speech. Often there is mental retardation and growth. Characterized by symmetrical spider veins in the mucous membrane of the eyes and skin. Dramatically increased the sensitivity of patients to infectious diseases, especially of the upper respiratory tract and lungs. In terms of immunity disorders and increased risk of malignancy.

    Diagnosis is typically not causedifficulty. It is confirmed by the results of blood tests and cerebrospinal fluid. In the treatment, special attention should be directed to the intensive treatment of any infectious disease. Also used drugs that enhance the immune system, improve brain function and muscle.

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