Rhabdomyolysis featuring muscular dystrophies

摘要: Abstract Background Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies under-recognized in clinical practice. Objective To identify presenting with at onset or as predominant feature. Methods We retrospectively reviewed laboratory data patients genetically confirmed dystrophy whom was the main manifestation. Results Thirteen unrelated (males=6; females=7) were identified. Median age time 18years (range, 2–47) median duration first episode molecular diagnosis 2years. Fukutin-related protein ( FKRP ) (n=6) most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) dystrophinopathy (n=2). Four experienced recurrent rhabdomyolysis. Eight asymptomatic 3 reported myalgia exercise intolerance prior to Exercise fever (n=4) triggers; unprovoked patients. Twelve required hospitalization. Baseline CK levels elevated all (median 1200IU/L; range, 600–3600). Conclusion Muscular can present rhabdomyolysis; mutations are particularly frequent causing such complication. A persistently level warrants consideration for underlying dystrophy.