Machado-Joseph Disease

**Definition:** A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

**Tree numbers:** - C10.228.140.252.190.530.530 - C10.228.140.252.700.700.500 - C10.228.854.787.875.500 - C10.574.500.825.700.500 - C10.597.350.090.500.530.530 - C16.320.400.780.875.500

**Synonyms:** - Azorean Disease - Joseph Azorean Disease - Joseph Disease - Spinocerebellar Ataxia Type 3 - Striatonigral Degeneration, Autosomal Dominant - Autosomal Dominant Striatonigral Degeneration - Azorean Disease, Nervous System - Machado-Joseph Azorean Disease - Nervous System Azorean Disease - Spinocerebellar Ataxia-3 - Type 3 Spinocerebellar Ataxia - Azorean Disease (Machado-Joseph) - Spinocerebellar Atrophy Type 3 - Azorean Neurologic Disease - Nigrospinodentatal Degeneration - Spinocerebellar Ataxia 3 - Spinocerebellar Atrophy III - Azorean Ataxia