Abstract Objective To analyze the clinical features of 6 children with Duchenne muscular dystrophy (DMD) and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease. Methods A retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015. Results All the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1.2-11.5 years. All patients had insidious onset and increases in alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, α-hydroxybutyrate dehydrogenase, creatine kinase (CK), and creatine kinase-MB, particularly CK, which was 3.3-107.2 times the normal level. Their gene detection results all showed DMD gene mutation. The gene detection results of two children's mothers showed that they carried the same mutant gene. The muscle biopsy in one case showed that the pathological changes confirmed the diagnosis of DMD. The level of CK in one case declined by 77.0% 5 days after umbilical cord blood mesenchymal stem cell transplantation. Conclusions For boys with abnormal serum enzyme levels and motor function, DMD should be highly suspected. It should be confirmed by CK and DMD gene detection as soon as possible. And the progression of the disease could be delayed by early intervention for protecting the remaining normal muscle fibers.
Mendell JR, Shilling C, Leslie ND, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy[J]. Ann Neurol, 2012, 71(3):304-313.
[2]
Ciafaloni E, Fox DJ, Pandya S, et al. Delayed diagnosis in Duchenne muscular dystrophy:data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)[J]. J Pediatr, 2009, 155(3):380-385.
[3]
van Ruiten HJ, Straub V, Bushby K, et al. Improving recognition of Duchenne muscular dystrophy:a retrospective case note review[J]. Arch Dis Child, 2014, 99(12):1074-1077.
[4]
McMillan HJ, Gregas M, Darras BT, et al. Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy[J]. Pediatrics, 2011, 127(1):e132-136.
Brancaccio P, Lippi G, Maffulli N. Biochemical markers of muscular damage[J]. Clin Chem Lab Med, 2010, 48(6):757-767.
[8]
Kyriakides T, Angelini C, Schaefer J, et al. EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia[J]. Eur J Neurol, 2010, 17(6):767-773.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1:diagnosis, and pharmacological and psychosocial management[J]. Lancet Neurol, 2010, 9(1):77-93.
[11]
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2:implementation of multidisciplinary care[J]. Lancet Neurol, 2010, 9(2):177-189.
[12]
Blake DJ, Weir A, Newey SE, et al. Function and genetics of dystrophin and dystrophin-related proteins in muscle[J]. Physiol Rev, 2002, 82(2):291-329.
[13]
Takeshima Y, Yagi M, Okizuka Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center[J]. J Hum Genet, 2010, 55(6):379-388.
Seto JT, Bengtsson NE, Chamberlain JS. Therapy of genetic disorders-novel therapies for Duchenne muscular dystrophy[J]. Curr Pediatr Rep, 2014, 2(2):102-112.
[18]
Guiraud S, Squire SE, Edwards B, et al. Second-generation compound for the modulation of utrophin in the therapy of DMD[J]. Hum Mol Genet, 2015, 24(15):4212-4224.
[19]
Scully MA, Pandya S, Moxley RT. Review of Phase II and Phase III clinical trials for Duchenne muscular dystrophy[J]. Expert Opinion Orphan Drugs, 2013, 1(1):33-46.
[20]
Bushby K, Finkel R, Wong B, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy[J]. Muscle Nerve, 2014, 50(4):477-487.
[21]
Nakamura A. X-linked dilated cardiomyopathy:A cardiospecific phenotype of dystrophinnopathy[J]. Pharmaceuticals, 2015, 8(2):303-320.
[22]
Flanigan KM. Duchenne and Becker muscular dystrophies[J]. Neurol Clin, 2014, 32(3):671-688.
[23]
Merlini L, Gennari M, Malaspina E, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients:14-year follow-up[J]. Muscle Nerve, 2012, 45(6):796-802.
