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Spastic paraplegia-neuropathy-poikiloderma syndrome

Disease definition

A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.

ORPHA:2821

Classification level: Disorder
  • Synonym(s):
    • Antinolo-Nieto-Borrego syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 182815
  • UMLS: C1866851
  • MeSH: C536870
  • GARD: 4921
  • MedDRA: -

Detailed information

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