Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired. Disease data Classification Clinical subtype Synonyms Juvenile spinal muscular atrophy Choroba Kugelberga i Welandera Młodzieńczy rdzeniowy zanik mięśni SMA typu 3 SMA typu III SMA3 SMA-III Kugelberg-Welander disease SMA type 3 SMA type III SMA-III SMA3 ORPHA code 83419 OMIM code 253400 ICD10 code G12.1 ICD11 code 8B61.2 *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