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Hereditary ataxia

Hereditary ataxia Causes

The hereditary ataxias can be subdivided by mode of inheritance (that is, autosomal recessive, autosomal dominant, X-linked, and mitochondrial) and causative gene or chromosomal locus.

Hereditary ataxia Definition

The hereditary ataxias are a group of genetic disorders marked by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum arises. The hereditary ataxias are grouped by mode of inheritance and causative gene or chromosomal locus.

Hereditary ataxia Diagnosis

Differential diagnosis of hereditary ataxia includes acquired, non-genetic causes of ataxia (such as alcoholism, multiple sclerosis, vitamin deficiencies, vascular disease, primary or metastatic tumors) or paraneoplastic diseases associated with occult carcinoma of the ovary, breast, or lung. The probability of an acquired cause of ataxia needs to be considered in each individual with ataxia because a specific treatment may be available.

Hereditary ataxia Symptoms and Signs

Ataxias are marked by variable degrees of dysfunction and degeneration of systems involving motor coordination. The clinical presentation of hereditary ataxias can vary greatly, ranging from pure cerebellar ataxias to symptoms similar to multiple system atrophy or multi-organ disorders.

Hereditary ataxia Treatment

Management is typically directed at providing assistance for coordination problems through established methods of rehabilitation medicine and occupational and physical therapy. Canes, walkers, and wheelchairs are especially useful for gait ataxia. Speech therapy may be beneficial for persons with dysarthria. Computer devices are available to aid persons with severe speech deficits.

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