/Gamstorp-Wohlfart syndrome

Gamstorp-Wohlfart syndrome

Rare Disease

MONDO:0007646

Also Known As

ARAN-NMARCMT2-NMGamstorp-Wohlfart syndromeautosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotoniaautosomal recessive neuromyotonia and axonal neuropathymyokymia, myotonia and muscle wastingNMANautosomal recessive axonal neuropathy with neuromyotoniamyokymia, myotonia, and muscle wastingneuromyotonia and axonal neuropathy, autosomal recessive

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.