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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. 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 for autosomal recessive and sporadic cases. 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. 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. It is currently feasible to identify several subtypes of LGMD2 (autosomal recessive forms) on the basis of gene mutations and/or deficiency of gene products. No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures. In the majority of patients, progressive weakness leads to disability requiring additional aids and adjustments. |