Ataxia Health Article

Diagnosis

Genetic forms of ataxia must be distinguished from the acquired (non-genetic) ataxias. Diagnosis of inherited ataxias begins with the analysis of the clinical family history, physical examination, and neuro-imaging techniques such as CT or MRI scans. As similar symptoms are described in many different types of ataxia, genetic screening is the most reliable tool for diagnosis. Genetic tests for SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17, episodic ataxia type 1, episodic ataxia type 2, DRPLA, Friedreich ataxia (FRDA), and Charlevoix-Saguenay ataxia are available.

Treatment team

Neurologists and geneticists are the front line treatment team for people with ataxia, along with specialized nurses and therapists. Both neurologists and geneticists usually participate in the diagnosis of the particular form of ataxia. Neurologists and other physicians provide treatment for the resulting symptoms. Genetic counseling and risk assessment of individuals without symptoms, but with a family history of the disease, is the task of the geneticist.

Treatment

Except for some acquired and reversible forms of ataxia as initially described, there is no cure or preventive treatment for the progressive forms of the disease, or for those ataxias resulting from accidental lesions of motor brain areas and/or the spinal cord. Antispasmodic and/or anticonvulsive medications, and analgesics for some painful neuropathies, may control and relieve the respective symptoms in some ataxia subtypes. Wheelchair, walking devices, and speech aids may be required in different stages of the progressive forms of ataxia.

Recovery and rehabilitation

Whether the ataxia is an acute condition that is likely to improve, or a progressive disease, therapy is aimed at maintaining the highest practical level of muscle function and coordination. Physical therapists provide strengthening exercises where muscle tissue integrity is likely to return or plateau, and range of motion exercises where muscle movement is limited. Gait training is also an important part of rehabilitation for persons with ataxia, as physical therapists help persons adapt to abnormal muscle movements, while safely maintaining posture and walking. As the disease progresses, the goals of therapy adapt to the person's changing abilities. Speech therapists help assess difficulties with speaking and eating, and offer strategies to compensate for them. Occupational therapists also make positional devices available to help maintain posture and comfort.

Clinical trials

Further basic research is needed before clinical trials become a possibility for this group of neurodegenerative diseases. Ongoing genetic and molecular research on the mechanisms involved in the disease will eventually yield enough data for the development of further diagnostic markers and, hopefully, allow the design of experimental gene therapies to treat many of the inherited ataxias.

Prognosis

The prognosis for a person with ataxia depends upon the type and nature of the disease. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. Hereditary ataxias are usually progressive syndromes, with symptoms becoming more disabling over varying periods of time.

BOOKS

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Icon Health Publicaitons. The Official Parent's Sourcebook on Friedreich's Ataxia: A Revised and Updated Directory for the Internet Age. San Diego: Icon Group Int., 2002.

OTHER

Dystonia Medical Research Foundation. 1 East Wacker Drive, Suite 2430, Chicago, IL, 60601-1905. (312) 755-0198; Fax: (312) 803-0138. Dystonia@dystonia-foundation.org. <http://www.dystonia-foundation.org>.

International Joseph Disease Foundation, Inc. P.O. Box 994268, Redding, CA 96099-4268. (530) 246-4722. MJD@ijdf.net. <http://www.ijdf.net>.

National Ataxia Foundation (NAF). 2600 Fernbrook Lane, Suite 119, Minneapolis, MN 55447-4752. (763) 553-0020; Fax: (763) 553-0167. Naf@ataxia.org. <http://www.ataxia.org>.

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National Institute of Neurological Disorders and Stroke. "NINDS Ataxias and Cerebellar/Spinocerebellar Degeneration Information Page." <http://www.ninds.nih.gov/health_and_medical/disorders/ataxia.htm> (February 11, 2004).

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National Organization for Rare Disorders (NORD). P.O. Box 1968 (55 Kenosia Avenue), Danbury, CT 06813-1968. (203) 744-0100 or (800) 999-NORD (6673); Fax: (203) 798-2291. Orphan@rarediseases.org. <http://www.rarediseases.org>.

Worldwide Education & Awareness for Movement Disorders (WE MOVE). 204 West 84th Street, New York, NY. (212) 875-8312 or (800) 437-MOV2 (6682). Fax: (212) 875-8389. Wemove@wemove.org. <http://www.wemove.org>.

Sandra Galeotti