SCA-3 (SPINOCEREBELLAR ATAXIA): ATXN3 GENE MUTATION
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SCA3 (Machado-Joseph disease) is an autosomal dominant ataxia being one of the most common among majority of populations. It is classified into 3 types namely- Type I (Amotrophic lateral sclerosis-Parkinsonism-Dystonia type); Type II (Ataxic type) & Type III (Ataxic-Amyotrophic type). Mean age of onset of SCA3 is 25 years and patients have severe debilitation by 15 years from the age of onset in types I & II. In SCA 3 there is a CAG trinucleotide repeat in chromosome 14q which results in abnormal Ataxin-3 protein production.