has material basis in germline mutation in HINT1 syndromic disease hereditary disease Gamstorp-Wohlfart syndrome https://www.malacards.org/card/neuromyotonia_and_axonal_neuropathy_autosomal_recessive autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia MONDO:0007646 SCTID:711406009 neuromyotonia and axonal neuropathy, autosomal recessive Gamstorp-Wohlfart syndrome GARD:0012353 DOID:0050526 ARCMT2-NM Orphanet:324442 icd11.foundation:1738677442 MEDGEN:1814513 NMAN 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. ARAN-NM OMIM:137200 UMLS:C5700127