Machado-Joseph Disease

Synonyms

3s, Spinocerebellar Ataxia

Ataxia 3, Spinocerebellar

Ataxia 3s, Spinocerebellar

Atrophy III, Spinocerebellar

Atrophy IIIs, Spinocerebellar

Autosomal Dominant Striatonigral Degeneration

Azorean Ataxia

Azorean Disease

Azorean Disease (Machado Joseph)

Azorean Disease (Machado-Joseph)

Azorean Disease, Nervous System

Azorean Neurologic Disease

Degeneration, Nigrospinodentatal

Degenerations, Nigrospinodentatal

Disease, Azorean

Disease, Azorean (Machado-Joseph)

Disease, Azorean Neurologic

Disease, Joseph

Disease, Joseph Azorean

Disease, Machado-Joseph

Disease, Machado-Joseph Azorean

III, Spinocerebellar Atrophy

Joseph Azorean Disease

Joseph Disease

Machado Joseph Azorean Disease

Machado Joseph Disease

Machado Joseph Disease Type I

Machado Joseph Disease Type II

Machado Joseph Disease Type III

Machado Joseph Disease Type IV

Machado-Joseph Azorean Disease

Machado-Joseph Disease Type I

Machado-Joseph Disease Type II

Machado-Joseph Disease Type III

Machado-Joseph Disease Type IV

Nervous System Azorean Disease

Neurologic Disease, Azorean

Nigrospinodentatal Degeneration

Nigrospinodentatal Degenerations

Spinocerebellar Ataxia 3

Spinocerebellar Ataxia 3s

Spinocerebellar Ataxia Type 3

Spinocerebellar Ataxia-3

Spinocerebellar Atrophy III

Spinocerebellar Atrophy IIIs

Spinocerebellar Atrophy Type 3

Striatonigral Degeneration, Autosomal Dominant

Type 3 Spinocerebellar Ataxia

Type I Machado Joseph Disease

Type I Machado-Joseph Disease

Type II Machado Joseph Disease

Type II Machado-Joseph Disease

Type III Machado Joseph Disease

Type III Machado-Joseph Disease

Type IV Machado Joseph Disease

Type IV Machado-Joseph Disease

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)