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Familial episodic pain syndrome

Disease definition

Familial episodic pain syndrome is a rare, genetic, peripheral neuropathy disorder characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.

ORPHA:391384

Classification level: Disorder
  • Synonym(s):
    • FEPS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: M79.6
  • OMIM: 615040  615552
  • UMLS: -
  • MeSH: -
  • GARD: 12684
  • MedDRA: -
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