Abstract
Objective To describe a case of deficient alpha-dystroglycan revealed by acute rhabdomyolysis. Rhabdomyolysis frequently occurs in metabolic myopathies induced by exercise or triggered by intercurrent disease. Furthermore, rhabdomyolysis has been described in muscular dystrophies, particularly Duchenne and Becker dystrophies. It has only rarely been reported in limb girdle muscular dystrophies (LGMD), even though it may be the first and unique presenting feature of some type of LGMD. Case description and results A 12 year old boy complained about fatigue after summer holidays with more intensive exercise than usually. As laboratory investigations showed mild elevation of serum AST (264 IU/l, N Conclusion Limb girdle muscular dystrophy type 2I (LGMD2I) is one of the most common autosomal recessive limb girdle muscular dystrophies presenting in childhood. It may present with acute rhabdomyolysis as the first sign. It should be included in the diagnostic work-up of rhabdomyolysis and persistent high CK levels should prompt muscle biopsy and/or molecular diagnosis.
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