Machado-Joseph Disease

《英文msh詞典》Machado-Joseph Disease
[主題詞] Machado-Joseph Disease
[同義詞] Azorean Disease
[同義詞] Joseph Disease
[同義詞] Spinocerebellar Ataxia Type 3
[同義詞] Striatonigral Degeneration,Autosomal Dominant
[入口詞] Autosomal Dominant Striatonigral Degeneration
[入口詞] Azorean Disease (Machado-Joseph)
[入口詞] Azorean Disease,Nervous System
[入口詞] Joseph Azorean Disease
[入口詞] Machado-Joseph Azorean Disease
[入口詞] Machado-Joseph Disease Type I
[入口詞] Machado-Joseph Disease Type II
[入口詞] Machado-Joseph Disease Type III
[入口詞] Machado-Joseph Disease Type IV
[入口詞] Nervous System Azorean Disease
[入口詞] Spinocerebellar Ataxia-3
[入口詞] Type 3 Spinocerebellar Ataxia
[入口詞] Type I Machado-Joseph Disease
[入口詞] Type II Machado-Joseph Disease
[入口詞] Type III Machado-Joseph Disease
[入口詞] Type IV Machado-Joseph Disease
[入口詞] Azorean Disease (Machado Joseph)
[入口詞] Azorean Diseases (Machado-Joseph)
[入口詞] Disease,Azorean
[入口詞] Disease,Azorean (Machado-Joseph)
[入口詞] Disease,Joseph
[入口詞] Disease,Joseph Azorean
[入口詞] Disease,Machado-Joseph
[入口詞] Disease,Machado-Joseph Azorean
[入口詞] Diseases,Azorean (Machado-Joseph)
[入口詞] Machado Joseph Azorean Disease
[入口詞] Machado Joseph Disease
[入口詞] Machado Joseph Disease Type I
[入口詞] Machado Joseph Disease Type II
[入口詞] Machado Joseph Disease Type III
[入口詞] Machado Joseph Disease Type IV
[入口詞] Spinocerebellar Ataxia 3
[入口詞] Type I Machado Joseph Disease
[入口詞] Type II Machado Joseph Disease
[入口詞] Type III Machado Joseph Disease
[入口詞] Type IV Machado Joseph Disease
[中文釋義] Machado-Joseph病
[英文釋義] 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)