Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. Disease data Classification Disease Synonyms Autosomal recessive limb-girdle muscular dystrophy type 2H Dystrofia obręczowo-kończynowa z powodu niedoboru TRIM32 LGMD2H LGMD due to TRIM32 deficiency LGMD type 2H LGMD2H Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy type 2H Sarcotubular myopathy TRIM32-related LGMD R8 ORPHA code 1878 OMIM code 254110 ICD10 code G71.0 ICD11 code 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