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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Nervous System Diseases > Central Nervous System Diseases > Spinal Cord Diseases > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebellar Diseases > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebellar Diseases > Cerebellar Ataxia > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Dyskinesias > Ataxia > Cerebellar Ataxia > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Nervous System Diseases > Neurologic Manifestations > Dyskinesias > Ataxia > Cerebellar Ataxia > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Dyskinesias > Ataxia > Cerebellar Ataxia > Spinocerebellar Ataxias > Machado-Joseph Disease

Preferred term

Machado-Joseph Disease  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • 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 Azorean
  • III, Spinocerebellar Atrophy
  • Joseph Azorean Disease
  • Joseph Disease
  • Machado Joseph Azorean Disease
  • Machado-Joseph Azorean Disease
  • Nervous System Azorean Disease
  • Neurologic Disease, Azorean
  • Nigrospinodentatal Degeneration
  • Nigrospinodentatal Degenerations
  • Spinocerebellar Ataxia 3
  • Spinocerebellar Ataxia-3
  • Spinocerebellar Ataxia 3s
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Atrophy III
  • Spinocerebellar Atrophy IIIs
  • Spinocerebellar Atrophy Type 3
  • Striatonigral Degeneration, Autosomal Dominant
  • Type 3 Spinocerebellar Ataxia

Scope note

  • 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)

History note

  • 94; was see SPINOCEREBELLAR DEGENERATION 1987-93

In other languages

URI

http://www.yso.fi/onto/mesh/D017827

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