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)

Also Known As:

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

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Machado-Joseph Disease: 619
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Ataxia: 6487
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Machado-Joseph Disease: 619
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebellar Diseases: 647
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Machado-Joseph Disease: 619
      - Spinocerebellar Degenerations: 355
        Spinocerebellar Ataxias: 2124
        Machado-Joseph Disease: 619
  - Spinal Cord Diseases: 4420
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Machado-Joseph Disease: 619
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Machado-Joseph Disease: 619

Renée M Brielmann Selected Research

Renée M Brielmann Research Topics

Disease

Drug/Important Bio-Agent (IBA)