Hereditary Ataxia Overview

Clinical characteristics.

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur.

Diagnosis/testing.

Inherited (genetic) forms of ataxia must be distinguished from the many acquired (non-genetic) causes of ataxia. The genetic forms of ataxia are diagnosed by family history, physical examination, neuroimaging, and molecular genetic testing.

Genetic counseling.

The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Genetic counseling and risk assessment depend on determination of the specific cause of an inherited ataxia in an individual.

Management.

Treatment of manifestations: Canes, walkers, and wheelchairs for gait ataxia; use of special devices to assist with handwriting, buttoning, and use of eating utensils; speech therapy and/or computer-based devices for those with dysarthria and severe speech deficits.

Prevention of primary manifestations: With the exception of vitamin E therapy for ataxia with vitamin E deficiency (AVED), no specific treatments exist for hereditary ataxia.

Treatment of Manifestations

Management of ataxias is usually directed at providing assistance for coordination problems through established methods of rehabilitation medicine and occupational and physical therapy.

Canes, walkers, and wheelchairs are useful for gait ataxia.

Special devices are available to assist with handwriting, buttoning, and use of eating utensils.

Speech therapy may benefit persons with dysarthria. Computer devices are available to assist persons with severe speech deficits.

Prevention of Primary Manifestations

With the exception of AVED, Refsum syndrome, CTX, and CoQ₁₀ deficiency, no specific treatments exist for hereditary ataxia.