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Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

Disease definition

A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

ORPHA:320385

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive spastic paraplegia type 49
    • HSAN due to TECPR2 mutation
    • SPG49
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.4
  • ICD-11: 8C21.Y
  • OMIM: 615031
  • UMLS: C5190860
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

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

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