Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 data Classification Disease Synonyms ARAN-NM ARAN-NM ARCMT2-NM Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 z neuromiotonią ARCMT2-NM Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia ORPHA code 324442 OMIM code 137200 ICD10 code G60.0 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl