Autosomal recessive axonal neuropathy with neuromyotonia

Orpha code: 324442OMIM code: 137200

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
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl