Gamstorp-Wohlfart syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
ARAN-NM
exact
ARCMT2-NM
exact
Gamstorp-Wohlfart syndrome
exact
NMAN
related
autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
exact
neuromyotonia and axonal neuropathy, autosomal recessive
related
SPCC1442.14c