A Case Report of Machado-Joseph Disease in Young Male Patient
Shyam Patel
Department of General Medicine, Pacific Institute of Medical Sciences, Umarda, Udaipur, Rajasthan, India.
Rajesh Khoiwal *
Department of General Medicine, Pacific Institute of Medical Sciences, Umarda, Udaipur, Rajasthan, India.
*Author to whom correspondence should be addressed.
Abstract
Spinocerebellar ataxia type-3, also known as machado-joseph disease is an autosomal dominant CAG trinucleotide repeat disease that present in young to middle age adults.clinically, it is characterized by gradually progressive ataxia and progressive degenerative changes in cerebellum and spinal cord along with basal ganglia and cortex [1].
Keywords: Spinocerebellar ataxia, cerebellum, machado-joseph, autosomal dominant