Limb girdle muscular dystrophy ( generic term ) Author : Doctor Anneke

Keywords Name of disease and synonyms Name of excluded diseases Diagnostic criteria/ Definition Differential diagnosis Incidence Clinical description Management Diagnosis Genetic counseling Prenatal diagnosis Unsolved questions References Abstract LGMD constitutes a group of genetically determined, progressive disorders of muscles, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. It may be inherited in an autosomal recessive or dominant fashion. The different subtypes of LGMD can now be distinguished by means of protein-and genetic analysis. All other diseases presenting with limb girdle weakness, (i.e. limb girdle syndromes must be excluded when establishing the diagnosis. The clinical picture of autosomal recessive LGMD closely resembles that of Duchenne/Becker type of muscular dystrophy (DMD/BMD). In recessive families, disease onset beyond the early twenties is rare, but later onset may occur in dominant cases. Progression of muscle weakness is inevitable ranging from rapid to very slow. A survey in Netherlands using strict diagnostic criteria has reported a prevalence of 8.1 x 10-6 for all LGMD cases and 5.7 x 10-6