Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. Disease data Klasyfikacja Disease Synonimy AR-CMT2B5 Ciężka neuropatia aksonalna o wczesnym początku z powodu niedoboru podjednostki lekkich neurofilamentów Autosomal recessive Charcot-Marie-Tooth disease type 2B5 SEOAN due to NEFL deficiency Severe early-onset axonal neuropathy due to NEFL deficiency Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency Kod ORPHA 228374 Kod OMIM 607734 Kod ICD10 G60.0 Kod ICD11 8C20.1 *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