You are using an outdated browser. Please upgrade your browser to improve your experience.

Gamstorp-Wohlfart syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Autosomal recessive axonal neuropathy with neuromyotonia is 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.
Uniprot Description An autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves.
Disease Ontology Description A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs.
Mondo Term and Equivalent IDs
MONDO:0007646:  Gamstorp-Wohlfart syndrome
GARD:0012353: 
Orphanet:324442: 
SCTID:711406009: 
UMLS:CN074193: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)