Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. Disease data Classification Disease Synonyms LGMD due to POMK deficiency LGMD spowodowana niedoborem POMK ORPHA code 445110 OMIM code 616094 ICD10 code G71.0 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