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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]

Clinical features

From HPO
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.

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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