Details of Disease

General Information of Disease (ID: DIS0OB1V)

• Disease Name: Spastic ataxia 5
• Synonyms: early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; spastic ataxia 5, autosomal recessive; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2 autosomal recessive spastic ataxia; spastic ataxia type 5; SPAX5; AFG3L2-related spastic ataxia-neuropathy syndrome; autosomal recessive spastic ataxia type 5; autosomal recessive spastic ataxia caused by mutation in AFG3L2
• Definition: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
• Disease Hierarchy:
  DISIGZSM: Mitochondrial DNA depletion syndrome
  DIS6VTRF: Autosomal recessive spastic ataxia
  DIS0OB1V: Spastic ataxia 5
• Disease Identifiers:
  MONDO ID: MONDO_0013776
  UMLS CUI: C3280977
  OMIM ID: 614487
  MedGen ID: 482607
  Orphanet ID: 313772
  SNOMED CT ID: 771469002

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
AFG3L2	OTRPMAUX	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.