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Machado-Josephs sjukdom
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ Machado-Josephs sjukdom 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Machado-Josephs sjukdom 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Machado-Josephs sjukdom 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ Machado-Josephs sjukdom 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ Machado-Josephs sjukdom 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ Machado-Josephs sjukdom 1 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Machado-Josephs sjukdom 1 sidobegreppX |
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Anmärkning: | 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)
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historyNote*: | 94; was see SPINOCEREBELLAR DEGENERATION 1987-93
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onlineNote*: | use SPINOCEREBELLAR DEGENERATION to search MACHADO-JOSEPH DISEASE 1987-93
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publicMeSHNote*: | 94; was see SPINOCEREBELLAR DEGENERATION 1987-93
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activeMeSHYear*: | |
dateCreated*: | 1993-02-16X |
dateEstablished*: | 1994-01-01X |
dateRevised*: | 2005-06-30X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | TGCX |
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Termer och motsvarande begrepp: | Machado-Josephin tauti (fi) XMachado-Joseph Disease (en) Type I Machado-Joseph Disease (en, ersatt) Type 3 Spinocerebellar Ataxia (en, ersatt) Striatonigral Degeneration, Autosomal Dominant (en, ersatt) Type II Machado-Joseph Disease (en, ersatt) Type III Machado-Joseph Disease (en, ersatt) Type IV Machado-Joseph Disease (en, ersatt) Spinocerebellar Ataxia-3 (en, ersatt) Spinocerebellar Ataxia Type 3 (en, ersatt) Azorean Disease, Nervous System (en, ersatt) Azorean Disease (Machado-Joseph) (en, ersatt) Azorean Disease (en, ersatt) Joseph Azorean Disease (en, ersatt) Joseph Disease (en, ersatt) Nervous System Azorean Disease (en, ersatt) Machado-Joseph Azorean Disease (en, ersatt) Autosomal Dominant Striatonigral Degeneration (en, ersatt) Morbus Machado-Joseph (la-FI, ersatt) |
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