Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

56 entry terms
  • Autosomal Dominant Striatonigral Degeneration
  • Azorean Ataxia
  • Azorean Disease
  • Azorean Disease (Machado-Joseph)
  • Azorean Disease, Nervous System
  • Azorean Neurologic Disease
  • Joseph Azorean Disease
  • Joseph Disease
  • Machado-Joseph Azorean Disease
  • Nervous System Azorean Disease
  • Nigrospinodentatal Degeneration
  • Spinocerebellar Ataxia 3
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Ataxia-3
  • Spinocerebellar Atrophy III
  • Spinocerebellar Atrophy Type 3
  • Striatonigral Degeneration, Autosomal Dominant
  • Type 3 Spinocerebellar Ataxia
  • 3s, Spinocerebellar Ataxia
  • Ataxia 3, Spinocerebellar
  • Ataxia 3s, Spinocerebellar
  • Atrophy III, Spinocerebellar
  • Atrophy IIIs, Spinocerebellar
  • Azorean Disease (Machado Joseph)
  • 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
  • Machado Joseph Azorean Disease
  • Machado Joseph Disease
  • Neurologic Disease, Azorean
  • Nigrospinodentatal Degenerations
  • Spinocerebellar Ataxia 3s
  • Spinocerebellar Atrophy IIIs
  • Machado-Joseph Disease Type I
  • Machado-Joseph Disease Type II
  • Machado-Joseph Disease Type III
  • Machado-Joseph Disease Type IV
  • Type I Machado-Joseph Disease
  • Type II Machado-Joseph Disease
  • Type III Machado-Joseph Disease
  • Type IV Machado-Joseph Disease
  • Machado Joseph Disease Type I
  • Machado Joseph Disease Type II
  • Machado Joseph Disease Type III
  • Machado Joseph Disease Type IV
  • Type I Machado Joseph Disease
  • Type II Machado Joseph Disease
  • Type III Machado Joseph Disease
  • Type IV Machado Joseph Disease

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

94; was see SPINOCEREBELLAR DEGENERATION 1987-93

MeSH Record

Previous Indexing

  • Cerebellar Ataxia (1980-1986)
  • Spinocerebellar Degeneration (1986-1993)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.252.190w.530w.530w
  2. C10w.228w.140w.252.700.700w.500w
  3. C10w.228w.854w.787.875w.500w
  4. C10w.574w.500.825.700w.500w
  5. C10w.597.350w.090w.500w.530w.530w
  6. C16w.320w.400.780.875w.500w

AMA Style

References

  1. National Library of Medicine. Machado-Joseph Disease. Medical Subject Headings (MeSH). 2026. Unique ID D017827. http://id.nlm.nih.gov/mesh/2026/D017827
  2. Machado-Joseph Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease
  3. Machado-Joseph Disease. In: Wikidata. https://www.wikidata.org/wiki/Q3026441