Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes <i>PMP22</i> (17p12), <i>MPZ</i> (1q22), <i>EGR2</i> (10q21.1) and <i>PRX</i> (19q13.2) have been implicated. Disease data Classification Disease Synonyms Charcot-Marie-Tooth disease type 3 Choroba Charcot, Marie i Tooth typu 3 Hereditary motor and sensory neuropathy type 3 HMSN 3 Hypertrophic neuropathy of infancy HMSN 3 HMSN III Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type III ORPHA code 64748 OMIM code 145900 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