Next Generation Sequencing Competence Network

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)

Descriptor ID	D017827
MeSH Number(s)	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
Concept/Terms	Machado-Joseph Disease Machado-Joseph Disease Disease, Machado-Joseph Machado Joseph Disease Joseph Azorean Disease Disease, Joseph Azorean Joseph Disease Disease, Joseph Spinocerebellar Ataxia Type 3 Striatonigral Degeneration, Autosomal Dominant Autosomal Dominant Striatonigral Degeneration Azorean Disease, Nervous System Machado-Joseph Azorean Disease Disease, Machado-Joseph Azorean Machado Joseph Azorean Disease Nervous System Azorean Disease Spinocerebellar Ataxia-3 Type 3 Spinocerebellar Ataxia Azorean Disease (Machado-Joseph) Azorean Disease (Machado Joseph) Disease, Azorean (Machado-Joseph) Spinocerebellar Atrophy Type 3 Azorean Neurologic Disease Disease, Azorean Neurologic Neurologic Disease, Azorean Nigrospinodentatal Degeneration Degeneration, Nigrospinodentatal Degenerations, Nigrospinodentatal Nigrospinodentatal Degenerations Spinocerebellar Ataxia 3 3s, Spinocerebellar Ataxia Ataxia 3, Spinocerebellar Ataxia 3s, Spinocerebellar Spinocerebellar Ataxia 3s Spinocerebellar Atrophy III Atrophy III, Spinocerebellar Atrophy IIIs, Spinocerebellar III, Spinocerebellar Atrophy Spinocerebellar Atrophy IIIs Azorean Ataxia Azorean Disease Disease, Azorean Machado-Joseph Disease Type IV Machado-Joseph Disease Type IV Machado Joseph Disease Type IV Type IV Machado-Joseph Disease Type IV Machado Joseph Disease Machado-Joseph Disease Type III Machado-Joseph Disease Type III Machado Joseph Disease Type III Type III Machado-Joseph Disease Type III Machado Joseph Disease Machado-Joseph Disease Type I Machado-Joseph Disease Type I Machado Joseph Disease Type I Type I Machado-Joseph Disease Type I Machado Joseph Disease Machado-Joseph Disease Type II Machado-Joseph Disease Type II Machado Joseph Disease Type II Type II Machado-Joseph Disease Type II Machado Joseph Disease

Below are MeSH descriptors whose meaning is more general than "Machado-Joseph Disease".

Below are MeSH descriptors whose meaning is related to "Machado-Joseph Disease".

Below are MeSH descriptors whose meaning is more specific than "Machado-Joseph Disease".