Biomaterial Database

[Machado-Joseph disease]. 2001

S Saitoh

Department of Pediatrics, Hokkaido University School of Medicine.

UI	MeSH Term	Description	Entries
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D017827	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)	Azorean Disease,Joseph Disease,Spinocerebellar Ataxia Type 3,Striatonigral Degeneration, Autosomal Dominant,Autosomal Dominant Striatonigral Degeneration,Azorean Ataxia,Azorean Disease (Machado-Joseph),Azorean Disease, Nervous System,Azorean Neurologic Disease,Joseph Azorean 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-3,Spinocerebellar Atrophy III,Spinocerebellar Atrophy Type 3,Type 3 Spinocerebellar Ataxia,Type I Machado-Joseph Disease,Type II Machado-Joseph Disease,Type III Machado-Joseph Disease,Type IV Machado-Joseph Disease,3s, Spinocerebellar Ataxia,Ataxia 3, Spinocerebellar,Ataxia 3s, Spinocerebellar,Atrophy III, Spinocerebellar,Atrophy IIIs, Spinocerebellar,Azorean Disease (Machado Joseph),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,Machado Joseph Azorean Disease,Machado Joseph Disease,Machado Joseph Disease Type I,Machado Joseph Disease Type II,Machado Joseph Disease Type III,Machado Joseph Disease Type IV,Neurologic Disease, Azorean,Nigrospinodentatal Degenerations,Spinocerebellar Ataxia 3s,Spinocerebellar Atrophy IIIs,Type I Machado Joseph Disease,Type II Machado Joseph Disease,Type III Machado Joseph Disease,Type IV Machado Joseph Disease