Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. Disease data Klasyfikacja Disease Synonimy Autosomal recessive limb-girdle muscular dystrophy type 2K Dystrofia obręczowo-kończynowa- niepełnosprawność intelektualna LGMD2K LGMD type 2K LGMD2K Limb-girdle muscular dystrophy type 2K Limb-girdle muscular dystrophy-intellectual disability syndrome POMT1-related LGMD R11 Kod ORPHA 86812 Kod OMIM 609308 Kod ICD10 G71.0 Kod ICD11 8C70.41 *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