Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms 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 ORPHA code 228374 OMIM code 607734 ICD10 code G60.0 ICD11 code 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