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Concept information

... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebellar Diseases > Cerebellar Ataxia > Spinocerebellar Ataxias > Machado-Joseph Disease
... > Nervous System Diseases > Neurologic Manifestations > Dyskinesias > Ataxia > 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 > Central Nervous System Diseases > Movement Disorders > Dyskinesias > Ataxia > Cerebellar Ataxia > 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 > Spinal Cord Diseases > Spinocerebellar Degenerations > Spinocerebellar Ataxias > Machado-Joseph Disease
... > 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

Terme préférentiel

Machado-Joseph Disease  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Synonyme(s)

  • 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-3
  • Spinocerebellar Ataxia Type 3
  • Spinocerebellar Atrophy III
  • Spinocerebellar Atrophy Type 3
  • Striatonigral Degeneration, Autosomal Dominant
  • Type 3 Spinocerebellar Ataxia

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Machado-Joseph

    français

  • Ataxie spino-cérébelleuse de type 3
  • Ataxie spino-cérébelleuse de type III
  • Ataxie spinocérébelleuse de type 3
  • Ataxie spinocérébelleuse de type III

URI

http://data.loterre.fr/ark:/67375/JVR-GFPLJZ9H-D

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RDF/XML TURTLE JSON-LD Date de création 16/02/1993, dernière modification le 28/06/2016