Hereditary ataxia is a condition caused by genetic mutations that affect the spinal cord and cerebellum, leading to loss of muscle control and physical coordination. There are over 70 types of inherited ataxias, classified by specific genetic mutations. Autosomal recessive and autosomal dominant ataxias are the two groups, with symptoms appearing gradually over many years. Treatment is symptomatic care, managed by a team of doctors.
Hereditary ataxia is the form of ataxia caused by the genetic inheritance of mutated genes. There are more than 70 types of inherited ataxias, including autosomal recessive and autosomal dominant ataxias, and they can affect all areas of the body. Each individual ataxia is classified according to its specific genetic mutation.
A general definition of hereditary ataxia is that it is a condition that causes gradual damage to the spinal cord and cerebellum. Mutated genes do not allow proper growth and development of the nervous system and brain. Over time, this leads to the damage responsible for the symptoms of ataxia.
Ataxia is a condition that leads to loss of muscle control and physical coordination. It can affect the whole body, including the arms, legs, mouth and eyes. When these areas are affected, there can be problems with basic functions, such as talking, walking, and even swallowing. Hereditary ataxia has neurological symptoms that do not appear suddenly, but rather appear over many years. As the condition progresses, the symptoms you experience will be more severe, leading to paralysis and wheelchair dependence.
Hereditary ataxia is the result of mutations in certain genes that a person inherits from one or both parents. All types of hereditary ataxias fall into one of two groups. Autosomal recessive ataxia occurs when genetic mutations are passed on from both parents. Autosomal dominant ataxia occurs when only one parent passes the mutation.
Friedreich’s ataxia and ataxia-telangiectasia are two types of autosomal recessive ataxia. In cases of Friedreich’s ataxia, symptoms begin anytime between the ages of five and 20. However, the symptoms of ataxia-telangiectasia begin in childhood or before the age of five.
Two types of autosomal dominant ataxia are spinocerebellar and episodic ataxias. Symptoms of spinocerebellar ataxia begin around 30-40 years of age. Episodic ataxia is rarer with symptoms appearing during adolescence and there are periods of time when no symptoms occur.
If ataxia is suspected, genetic testing will be performed in order to determine the type of ataxia based on the specific mutated gene. A lumbar puncture is usually done to test for cerebrospinal fluid. Magnetic resonance imaging (MRI) or computed topography (CT) scans may be done to check for brain abnormalities.
The treatment for hereditary ataxia is symptomatic care. Ataxia cannot be cured, but the symptoms that occur can be managed to avoid extreme discomfort. Several types of doctors will work to help patients deal with symptoms, including a neurologist, occupational therapist, and speech and language therapist.
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