Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. Disease data Classification Disease Synonyms Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons Autosomalna dominująca dziedziczna neuropatia ruchowa i czuciowa typu 2 z olbrzymimi aksonami CMT2 z olbrzymimi aksonami HMSN2 z olbrzymimi aksonami CMT2 with giant axons HMSN2 with giant axons ORPHA code 401964 OMIM code 610100 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