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Spinocerebellar Ataxia (SCA) is a disease of progressive incoordination of gait and loss of balance.

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Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Spinocerebellar Ataxia (SCA) is a disease of progressive incoordination of gait and loss of balance. This variant of the disorder, found in the Parson Russell Terrier, is caused by a recessive mutation to the gene CAPN1.

Clinical features

The chief symptom of SCA is uncoordinated gait (ataxia) with characteristic “dancing" or “prancing” leg movements. Clinical signs usually become notable between 6 and 12 months of age. Especially during the initial months of disease, the degree of truncal ataxia, pelvic limb hypermetria (overreaching with the hind legs) and impaired balance is progressive. During the later stages of the disease walking often becomes difficult. In the interest of animal welfare, owners of affected dogs often opt for euthanasia.

Additional information

References

Pubmed ID: 23741357

Omia ID: 1820

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