Orphanet: Infantile onset axonal motor and sensory neuropathy optic atrophy neurodegenerative syndrome
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Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

Disease definition

A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.

ORPHA:457205

Classification level: Disorder
  • Synonym(s):
    • ANOAC
    • Axonal neuropathy-optic atrophy-cognitive deficit syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G60.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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