Details of Disease

General Information of Disease (ID: DISZ4XRU)

• Disease Name: Gamstorp-Wohlfart syndrome
• Synonyms: neuromyotonia and axonal neuropathy, autosomal recessive; NMAN; myokymia, myotonia, and muscle wasting; autosomal recessive axonal neuropathy with neuromyotonia; myokymia, myotonia and muscle wasting; autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Gamstorp-Wohlfart syndrome; ARCMT2-NM; ARAN-NM; autosomal recessive neuromyotonia and axonal neuropathy
• Definition: A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISZ4XRU: Gamstorp-Wohlfart syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007646
  UMLS CUI: C5700127
  OMIM ID: 137200
  MedGen ID: 1814513
  Orphanet ID: 324442
  SNOMED CT ID: 711406009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HINT1	DEWJATF	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HINT1	OTQIR8LF	Definitive	Autosomal recessive	[1]

References

• [1] Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.