Related MeSH Hierarchy (6)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Cerebellar Diseases » Cerebellar Ataxia » Spinocerebellar Ataxias » Machado-Joseph Disease
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Cerebellar Diseases » Spinocerebellar Degenerations » Spinocerebellar Ataxias » Machado-Joseph Disease
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Spinal Cord Diseases » Spinocerebellar Degenerations » Spinocerebellar Ataxias » Machado-Joseph Disease
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Spinocerebellar Degenerations » Spinocerebellar Ataxias » Machado-Joseph Disease
Diseases [C] » Nervous System Diseases [C10] » Neurologic Manifestations » Dyskinesias » Ataxia » Cerebellar Ataxia » Spinocerebellar Ataxias » Machado-Joseph Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Spinocerebellar Degenerations » Spinocerebellar Ataxias » Machado-Joseph Disease
Description
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) MeSH
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