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Autosomal recessive spastic paraplegia type 61

Disease definition

Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.

ORPHA:401780

Classification level: Disorder
  • Synonym(s):
    • SPG61
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.4
  • OMIM: 615685
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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