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Hereditary thermosensitive neuropathy

MedGen UID:
355568
Concept ID:
C1865856
Disease or Syndrome
Synonym: Neuropathy, Hereditary Thermosensitive
SNOMED CT: Hereditary thermosensitive neuropathy (715645004)
 
Monarch Initiative: MONDO:0011197
OMIM®: 602107
Orphanet: ORPHA84093

Definition

Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary thermosensitive neuropathy
Follow this link to review classifications for Hereditary thermosensitive neuropathy in Orphanet.

Recent clinical studies

Diagnosis

Magy L, Birouk N, Vallat JM, Gouider R, Maisonobe T, Bouche P, Lyon-Caen O, Fontaine B
Neurology 1997 Jun;48(6):1684-90. doi: 10.1212/wnl.48.6.1684. PMID: 9191787

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