| 单词 | Machado-Joseph Disease |
| 释义 | Machado-Joseph Disease《英文msh词典》Machado-Joseph Disease [主题词] Machado-Joseph Disease [同义词] Azorean Disease [同义词] Joseph Disease [同义词] Spinocerebellar Ataxia Type 3 [同义词] Striatonigral Degeneration,Autosomal Dominant [入口词] Autosomal Dominant Striatonigral Degeneration [入口词] Azorean Disease (Machado-Joseph) [入口词] Azorean Disease,Nervous System [入口词] Joseph Azorean Disease [入口词] Machado-Joseph Azorean Disease [入口词] Machado-Joseph Disease Type I [入口词] Machado-Joseph Disease Type II [入口词] Machado-Joseph Disease Type III [入口词] Machado-Joseph Disease Type IV [入口词] Nervous System Azorean Disease [入口词] Spinocerebellar Ataxia-3 [入口词] Type 3 Spinocerebellar Ataxia [入口词] Type I Machado-Joseph Disease [入口词] Type II Machado-Joseph Disease [入口词] Type III Machado-Joseph Disease [入口词] Type IV Machado-Joseph Disease [入口词] Azorean Disease (Machado Joseph) [入口词] Azorean Diseases (Machado-Joseph) [入口词] Disease,Azorean [入口词] Disease,Azorean (Machado-Joseph) [入口词] Disease,Joseph [入口词] Disease,Joseph Azorean [入口词] Disease,Machado-Joseph [入口词] Disease,Machado-Joseph Azorean [入口词] Diseases,Azorean (Machado-Joseph) [入口词] Machado Joseph Azorean Disease [入口词] Machado Joseph Disease [入口词] Machado Joseph Disease Type I [入口词] Machado Joseph Disease Type II [入口词] Machado Joseph Disease Type III [入口词] Machado Joseph Disease Type IV [入口词] Spinocerebellar Ataxia 3 [入口词] Type I Machado Joseph Disease [入口词] Type II Machado Joseph Disease [入口词] Type III Machado Joseph Disease [入口词] Type IV Machado Joseph Disease [中文释义] Machado-Joseph病 [英文释义] 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 muscle 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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