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Spinocerebellar ataxia type 6 (SCA6) is a progressive neurological disorder affecting movement. Individuals with SCA6 initially exhibit ataxia, characterized by impaired coordination and balance. Other early symptoms include difficulties with speech, involuntary eye movements (nystagmus), and double vision. As the condition progresses, individuals may experience a loss of coordination in their arms, tremors, and involuntary muscle contractions (dystonia).
The onset of SCA6 symptoms typically occurs between the ages of 40 and 50, although the range can vary from childhood to late adulthood. Individuals affected by this disorder may eventually need assistive devices for walking or mobility.
SCA6 follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the disorder. Generally, an affected individual has inherited the mutated gene from one parent who also has the condition. The number of CAG repeats in the CACNA1A gene tends to increase with each successive generation. A greater number of repeats is generally correlated with an earlier onset of the disease. This phenomenon is known as anticipation.