Machado-joseph disease

Preferred Label : Machado-joseph disease;

Symbol : MJD;

CISMeF acronym : MJD; SCA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCA3; Azorean neurologic disease; Spinopontine atrophy; Spinocerebellar atrophy III; Spinocerebellar ataxia 3; Nigrospinodentatal degeneration;

Description : Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease. Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by trinucleotide repeat expansion (CAG)n in the ataxin-3 gene (MJD, 607047.0001);

Prefixed ID : #109150;

Details

Origin ID

109150;

UMLS CUI

C0024408;

Automatic exact mappings (from CISMeF team)
- Brachydactylous dwarfism, Mseleni type [ORDO Disease]
- MJD gene [LOINC component]
- muscular disorders, atrophic [MeSH Descriptor]
- spinocerebellar ataxias [MeSH Descriptor]
- spinopontine degeneration [SNOMED Notion]
Currated CISMeF NLP mapping
- Azorean disease (disorder) [SNOMED CT concept]
- Joseph disease [PASCAL descriptor]
- Machado Joseph disease [Disease (Nov.)]
- Machado-Joseph disease [DO Concept]
- Machado-Joseph disease [MeSH concept]
- Machado-Joseph disease [Radlex concept]
- Machado-Joseph disease type 1 [ORDO Disease]
- Machado-Joseph disease type 2 [ORDO Disease]
- Machado-Joseph disease type 3 [ORDO Disease]
- Spinocerebellar Ataxia Type 3 [NCIt concept]
- Spinocerebellar ataxia type 3 [ICD-11 More detail]
- Spinocerebellar ataxia type 3 [ORDO Disease]
- azorean disease, nos [SNOMED Notion]
- machado-joseph disease [MeSH Descriptor]
DO Cross reference
- Machado-Joseph disease [DO Concept]
False automatic mappings
- Spinopontine degeneration (disorder) [SNOMED CT concept]
- spinopontine atrophy [MeSH concept]
Genes related to phenotype
- Ataxin 3 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormal electrooculogram [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Absent Achilles reflex [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar atrophy, mild [HPO term]
- Chronic pain [HPO term]
- Decreased or absent ankle reflexes [HPO term]
- Dementia [HPO term]
- Dilated fourth ventricle [HPO term]
- Diplopia [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetric saccades [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Enlarged fourth ventricle, mild [HPO term]
- External ophthalmoplegia [HPO term]
- Facial-lingual fasciculations [HPO term]
- Fasciculations [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Genetic anticipation [HPO term]
- Gliosis [HPO term]
- Impaired horizontal smooth pursuit [HPO term]
- Impaired vibratory sensation [HPO term]
- Limb ataxia [HPO term]
- Muscle spasm [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Progressive [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Rigidity [HPO term]
- Spasticity [HPO term]
- Sphincter disturbance [HPO term]
- Spinocerebellar tract degeneration [HPO term]
- Supranuclear ophthalmoplegia [HPO term]
- Truncal ataxia [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Azorean disease (disorder) [SNOMED CT concept]
- Joseph disease [PASCAL descriptor]
- Machado Joseph disease [Disease (Nov.)]
- Machado-Joseph disease [MeSH concept]
- Machado-Joseph disease [Radlex concept]
- Machado-Joseph disease [DO Concept]
- Spinocerebellar Ataxia Type 3 [NCIt concept]
- Spinocerebellar ataxia type 3 [ORDO Disease]
- Spinocerebellar ataxia type 3 [ICD-11 More detail]
- azorean disease, nos [SNOMED Notion]
- machado-joseph disease [MeSH Descriptor]
Validated automatic mappings to BTNT
- Machado-Joseph disease type 1 [ICD-11 More detail]

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