Details of Disease

General Information of Disease (ID: DISR3MGT)

• Disease Name: X-linked non progressive cerebellar ataxia
• Synonyms: spinocerebellar ataxia, X-linked 5; SCAX5; X-linked spinocerebellar ataxia type 5; spinocerebellar ataxia, X-linked 5, X-linked recessive
• Definition: X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
• Disease Hierarchy:
  DISRWZ8R: X-linked cerebellar ataxia
  DISR3MGT: X-linked non progressive cerebellar ataxia
• Disease Identifiers:
  MONDO ID: MONDO_0010404
  MESH ID: C567478
  UMLS CUI: C2678048
  OMIM ID: 300703
  MedGen ID: 394718
  Orphanet ID: 314978

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP2B3	OT9DIEOP	Supportive	X-linked	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.