Machado-Joseph-Azorean disease in India.
Machado-Joseph-Azorean (MJA) disease is an autosomal-dominant multisystem motor degeneration (with cerebellar ataxia as an important manifestation) that is seen mainly in people of Portuguese descent. Recently, a family in Japan with probable MJA disease has been described. We describe a family with clinical features similar to those of MJA disease; these are the first cases to be described in India. Further pathologic study is necessary to confirm the diagnosis in our cases. Meanwhile, further search for such cases in India should yield interesting genetic clues to the disease.
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D005152:Facial Muscles / Q000503:physiopathology; D005260:Female; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000235:genetics; D010375:Pedigree