Skip navigation

Disease Machado-Joseph Disease

Name Machado-Joseph Disease
Synonyms 3, Spinocerebellar Ataxia | 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 | Disease, Machado-Joseph Azorean | III, Spinocerebellar Atrophy | IIIs, Spinocerebellar Atrophy | Joseph Azorean Disease | Joseph Disease | Machado Joseph Azorean Disease | Machado-Joseph Azorean Disease | Machado Joseph Disease | Machado Joseph Disease Type I | Machado-Joseph Disease Type I | Machado Joseph Disease Type II | Machado-Joseph Disease Type II | Machado Joseph Disease Type III | Machado-Joseph Disease Type III | Machado Joseph Disease Type IV | Machado-Joseph Disease Type IV | MJD | Nervous System Azorean Disease | Neurologic Disease, Azorean | Nigrospinodentatal Degeneration | Nigrospinodentatal Degenerations | SCA3 | Spinocerebellar Ataxia 3 | Spinocerebellar Ataxia-3 | Spinocerebellar Ataxia 3s | Spinocerebellar Ataxia Type 3 | Spinocerebellar Atrophy III | Spinocerebellar Atrophy IIIs | Spinocerebellar Atrophy Type 3 | SPINOPONTINE ATROPHY | Striatonigral Degeneration, Autosomal Dominant | Type 3 Spinocerebellar Ataxia | Type III Machado Joseph Disease | Type III Machado-Joseph Disease | Type II Machado Joseph Disease | Type II Machado-Joseph Disease | Type I Machado Joseph Disease | Type I Machado-Joseph Disease | Type IV Machado Joseph Disease | Type IV Machado-Joseph Disease
Definition 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)
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D017827
OMIM® ID 109150
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Cerebellar Diseases Has associated chemicals Has associated genes Cerebellar Ataxia Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Machado-Joseph Disease Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Cerebellar Diseases Has associated chemicals Has associated genes Spinocerebellar Degenerations Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Machado-Joseph Disease Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Spinal Cord Diseases Has associated chemicals Has associated genes Has associated exposure references Spinocerebellar Degenerations Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Machado-Joseph Disease Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Spinocerebellar Degenerations Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Machado-Joseph Disease Has associated chemicals Has associated genes
5. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Dyskinesias Has associated chemicals Has associated genes Has associated exposure references Ataxia Has associated chemicals Has associated genes Cerebellar Ataxia Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Machado-Joseph Disease Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Spinocerebellar Degenerations Has associated chemicals Has associated genes Spinocerebellar Ataxias Has associated chemicals Has associated genes Machado-Joseph Disease Has associated chemicals Has associated genes

Top ↑ Descendants

Machado-Joseph Disease Has associated chemicals Has associated genes
  Spinocerebellar ataxia, X-linked, 3 Has associated genes