ONKI3 | Medical Subject Headings

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Machado-Joseph Disease

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease 1 coordinate concept ∟ Ataxia Telangiectasia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Cerebellar Diseases ∟ Cerebellar Ataxia ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease 1 coordinate concept ∟ Ataxia Telangiectasia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Cerebellar Diseases ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease 1 coordinate concept ∟ Ataxia Telangiectasia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Spinal Cord Diseases ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease 1 coordinate concept ∟ Ataxia Telangiectasia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease 1 coordinate concept ∟ Ataxia Telangiectasia Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurologic Manifestations ∟ Dyskinesias ∟ Ataxia ∟ Cerebellar Ataxia ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease 1 coordinate concept ∟ Ataxia Telangiectasia Medical Subject Headings (MeSH) ∟ Pathological Conditions, Signs and Symptoms ∟ Signs and Symptoms ∟ Neurologic Manifestations ∟ Dyskinesias ∟ Ataxia ∟ Cerebellar Ataxia ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease 1 coordinate concept ∟ Ataxia Telangiectasia X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Cerebellar Diseases ∟ Cerebellar Ataxia ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Cerebellar Diseases ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Spinal Cord Diseases ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurodegenerative Diseases ∟ Heredodegenerative Disorders, Nervous System ∟ Spinocerebellar Degenerations ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neurologic Manifestations ∟ Dyskinesias ∟ Ataxia ∟ Cerebellar Ataxia ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease Medical Subject Headings (MeSH) ∟ Pathological Conditions, Signs and Symptoms ∟ Signs and Symptoms ∟ Neurologic Manifestations ∟ Dyskinesias ∟ Ataxia ∟ Cerebellar Ataxia ∟ Spinocerebellar Ataxias ∟ Machado-Joseph Disease Spinocerebellar Ataxias > Spinocerebellar Degenerations > Heredodegenerative Disorders, Nervous System > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Spinocerebellar Ataxias > Cerebellar Ataxia > Cerebellar Diseases > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Spinocerebellar Ataxias > Spinocerebellar Degenerations > Cerebellar Diseases > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Spinocerebellar Ataxias > Spinocerebellar Degenerations > Spinal Cord Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Spinocerebellar Ataxias > Spinocerebellar Degenerations > Heredodegenerative Disorders, Nervous System > Neurodegenerative Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Spinocerebellar Ataxias > Cerebellar Ataxia > Ataxia > Dyskinesias > Neurologic Manifestations > Nervous System Diseases > Medical Subject Headings (MeSH) Spinocerebellar Ataxias > Cerebellar Ataxia > Ataxia > Dyskinesias > Neurologic Manifestations > Signs and Symptoms > Pathological Conditions, Signs and Symptoms > Medical Subject Headings (MeSH) X
History note:	Cerebellar Ataxia (1980-1986) \| Spinocerebellar Degeneration (1986-1993)X
historyNote*:	94; was see SPINOCEREBELLAR DEGENERATION 1987-93 X
onlineNote*:	use SPINOCEREBELLAR DEGENERATION to search MACHADO-JOSEPH DISEASE 1987-93 X
publicMeSHNote*:	94; was see SPINOCEREBELLAR DEGENERATION 1987-93 X
Scope note:	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) X
activeMeSHYear*:	2006 \| 2007X
dateCreated*:	1993-02-16X
dateEstablished*:	1994-01-01X
dateRevised*:	2005-06-30X
recordAuthorizer*:	sjnX
recordMaintainer*:	nnsX
recordOriginator*:	TGCX
Type:	Concept X
Coordinate terms:	Ataxia Telangiectasia X
URI:	X
Labels and equivalent concepts:	Machado-Josephin tauti (fi) Machado-Josephs sjukdom (sv) Type I Machado-Joseph Disease (en, replaced) Type 3 Spinocerebellar Ataxia (en, replaced) Striatonigral Degeneration, Autosomal Dominant (en, replaced) Type II Machado-Joseph Disease (en, replaced) Type III Machado-Joseph Disease (en, replaced) Type IV Machado-Joseph Disease (en, replaced) Spinocerebellar Ataxia-3 (en, replaced) Spinocerebellar Ataxia Type 3 (en, replaced) Azorean Disease, Nervous System (en, replaced) Azorean Disease (Machado-Joseph) (en, replaced) Azorean Disease (en, replaced) Joseph Azorean Disease (en, replaced) Joseph Disease (en, replaced) Nervous System Azorean Disease (en, replaced) Machado-Joseph Azorean Disease (en, replaced) Autosomal Dominant Striatonigral Degeneration (en, replaced) Morbus Machado-Joseph (la-FI, replaced) X
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