Orphanet: Early onset spastic ataxia myoclonic epilepsy neuropathy syndrome
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Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Disease 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.

ORPHA:313772

Classification level: Disorder
  • Synonym(s):
    • AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
    • Autosomal recessive spastic ataxia type 5
    • SPAX5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 614487
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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