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Infantile neuroaxonal dystrophy

Disease definition

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

ORPHA:35069

  • Synonym(s):
    • INAD
    • INAD1
    • PLAN
    • Phospholipase A2-associated neurodegeneration
    • Seitelberger disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G23.0
  • OMIM: 256600  610217
  • UMLS: C0270724
  • MeSH: -
  • GARD: 3957
  • MedDRA: -

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