This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Spinocerebellar ataxia 4 (SCA4) is a very rare form of hereditary progressive movement disorder. Symptoms include muscle weakness (atrophy) and difficulty coordinating body movements (ataxia), most notably causing a jerky, unsteady walking style (gait) and difficulty speaking (dysarthria). A distinctive feature of SCA4 is the progressive loss of feeling or sensation in the hands and feet (peripheral neuropathy) and loss of reflexes. Degeneration of the area of the brain controlling balance and movement (cerebellar atrophy) causes symptoms to worsen over decades. The symptoms of SCA4 typically begin during the fourth or fifth decade of life, but can begin as early as the late teen years.. SCA4 is inherited in an autosomal dominant manner. Although SCA4 has been linked to a location on chromosome 16, (16q22.1), the gene which causes SCA4 when mutated has not been found. Diagnosis is based on symptoms consistent with the disease. Although there is no cure, treatment options may include physical therapy, assistive devices, and medications depending on the type and severity of symptoms present.
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