Machado-Joseph Disease [Machado-Josephova nemoc]
- Terms
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Machado-Joseph nemoc
Machado-Josephova choroba
Machado-Josephova nemoc typ I
Machado-Josephova nemoc typ II
Machado-Josephova nemoc typ III
Machado-Josephova nemoc typ IV
Machadova Josephova choroba
Machadova Josephova nemoc
spinocerebelární ataxie typu 3
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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
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 Type 3
Spinocerebellar Ataxia-3
Spinocerebellar Atrophy III
Spinocerebellar Atrophy Type 3
Striatonigral Degeneration, Autosomal Dominant
Type 3 Spinocerebellar Ataxia
Type I Machado-Joseph Disease
Type II Machado-Joseph Disease
Type III Machado-Joseph Disease
Type IV 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)
- DUI
- D017827 MeSH Browser
- CUI
- M0026933
- Previous indexing
- Cerebellar Ataxia (1980-1986); Spinocerebellar Degeneration (1986-1993)
- History note
- 94; was see SPINOCEREBELLAR DEGENERATION 1987-93
- Online note
- use SPINOCEREBELLAR DEGENERATION to search MACHADO-JOSEPH DISEASE 1987-93
- Public note
- 94; was see SPINOCEREBELLAR DEGENERATION 1987-93
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