Details of Disease | DrugMAP

General Information of Disease (ID: DISSMHTU)

Disease Name	Spinocerebellar ataxia 43
Synonyms	SCA43; spinocerebellar ataxia type 43; autosomal dominant cerebellar ataxia caused by mutation in MME; MME autosomal dominant cerebellar ataxia; spinocerebellar ataxia 43; SCA43; spinocerebellar ataxia 43
Definition	Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.
Disease Hierarchy	DISYMHUK: Spinocerebellar ataxia DISSMHTU: Spinocerebellar ataxia 43
Disease Identifiers	MONDO ID MONDO_0014867 UMLS CUI C4310763 OMIM ID 617018 MedGen ID 934730 Orphanet ID 497764 SNOMED CT ID 1208516002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MME	TT5TKPM	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MME	DEVN830	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MME	OT5Q39P8	Supportive	Autosomal dominant	[1]
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References

1	MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol Genet. 2016 Aug 18;2(5):e94. doi: 10.1212/NXG.0000000000000094. eCollection 2016 Oct.