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Spinocerebellar ataxia 1

Overview

Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. types of Spinocerebellar ataxia. The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of SCA refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found.

Symptoms - Spinocerebellar ataxia 1

Spinocerebellar ataxia (SCA) is one of 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, and different ataxias are known to affect different regions within the cerebellum. As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms.

Causes - Spinocerebellar ataxia 1

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Prevention - Spinocerebellar ataxia 1

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Diagnosis - Spinocerebellar ataxia 1

It can be easily misdiagnosed as another neurological condition, such as multiple sclerosis (MS). The most precise means of identifying SCA, including the specific type, is through DNA analysis. Asymptomatic and at risk family members considering a genetic test should consult with a physician and genetic counselor. An MRI of the brain may also show whether certain regions of the cerebellum have noticeably degenerated, but this is often not the most robust way to provide a diagnosis. SCA is related to olivopontocerebellar atrophy (OPCA); SCA types 1, 2, and 7 are also types of OPCA. However, not all types of OPCA are types of SCA, and vice versa. This overlapping classification system is both confusing and controversial to some in this field.

Prognosis - Spinocerebellar ataxia 1

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Treatment - Spinocerebellar ataxia 1

There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability. Treatments are generally limited to softening symptoms, not the disease itself. The condition can be irreversible. A person with this disease will usually end up needing to use a wheelchair, and eventually they may need assistance to perform daily tasks. The treatment of incoordination or ataxia, then mostly involves the use of adaptive devices to allow the ataxic individual to maintain as much independence as possible. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait; devices to assist with writing, feeding, and self care if hand and arm coordination are impaired; and communication devices for those with impaired speech.

Resources - Spinocerebellar ataxia 1

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