title: Rhabdomyolysis featuring muscular dystrophies.
abstract: BACKGROUND
  Rhabdomyolysis is a potentially life threatening condition of various etiology. The association between rhabdomyolysis and muscular dystrophies is under-recognized in clinical practice.
  
  
  OBJECTIVE
  To identify muscular dystrophies presenting with rhabdomyolysis at onset or as predominant feature.
  
  
  METHODS
  We retrospectively reviewed clinical and laboratory data of patients with a genetically confirmed muscular dystrophy in whom rhabdomyolysis was the presenting or main clinical manifestation.
  
  
  RESULTS
  Thirteen unrelated patients (males=6; females=7) were identified. Median age at time of rhabdomyolysis was 18 years (range, 2-47) and median duration between the first episode of rhabdomyolysis and molecular diagnosis was 2 years. Fukutin-related protein (FKRP) muscular dystrophy (n=6) was the most common diagnosis, followed by anoctaminopathy-5 (n=3), calpainopathy-3 (n=2) and dystrophinopathy (n=2). Four patients experienced recurrent rhabdomyolysis. Eight patients were asymptomatic and 3 reported myalgia and exercise intolerance prior to the rhabdomyolysis. Exercise (n=6) and fever (n=4) were common triggers; rhabdomyolysis was unprovoked in 3 patients. Twelve patients required hospitalization. Baseline CK levels were elevated in all patients (median 1200 IU/L; range, 600-3600).
  
  
  CONCLUSIONS
  Muscular dystrophies can present with rhabdomyolysis; FKRP mutations are particularly frequent in causing such complication. A persistently elevated CK level in patients with rhabdomyolysis warrants consideration for underlying muscular dystrophy.
authors.affiliation: Neuromuscular Division, Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address: rajatlahoria@gmail.com.
authors.forename: Rajat
authors.initials: R
authors.lastname: Lahoria
authors.affiliation: Neuromuscular Division, Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address: Milone.Margherita@mayo.ed.
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*; D012189:Retrospective Studies; D012206:Rhabdomyolysis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D055815:Young Adult
chemical_list: D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases
keywords: HyperCKemia; Muscular dystrophy; Myoglobinuria; Pseudometabolic myopathy; Rhabdomyolysis