Retrospective Analysis And Clinical Progress Of Duchenne Muscular Dystrophy

Objective:Duchenne muscular dystrophy(DMD)is X-linked recessive inherited disease by the mutations of the dystrophin gene.It is a most common,fatal neuromuscular disease in children.This paper was to analyze the clinic features of six children with DMD,and summarize the early diagnosis and effective treatment of this disease.Methods:The clinical date of six children with DMD who were admitted to the pediatrics of the First Affiliated Hospital of Nanjing Medical University from January 2010 to December 2015 was collected.A analysis about their clinical features was performed.The level of alanine aminotransferase(ALT),aspartate aminotransferase(AST),lactate dehydrogenase(LDH),a-hydroxybutyrate dehydrogenase(HBDH),creatine kinase(CK),and creatine kinase-MB(CK-MB)was measured in six children.All cases were confirmed by means of dystrophin gene detection.One case got a motion analysis check.And muscle biopsy from biceps of left upper extremity was made in one case.One case’s level of ALT,AST,LDH,HBDH,CK,and CK-MB was measured five days and one month after umbilical cord mesenchymal stem cells(UC-MSCs)transplantation.Results:All the six cases were boys without family history of DMD,and the age of diagnosis of DMD was 1.2-11.5 years old.All patients had insidious onset and increases in ALT,AST,LHD,HBDH,CK,and CK-MB,particularly CK,which was 3.3-1.7.2 times the normal level.Their gene detection results all showed dystrophin gene mutation.The gene detection results of two children’s mothers showed that they carried the same mutation gene.The result of motion analysis is gait abnormality.The muscle biopsy in one case showed the pathological changes confirmed with the diagnosis of DMD.The level of CK declined by 77.0%five days after umbilical cord mesenchymal stem cells transplantation.But CK went back up one month after transplantation which was no significant difference between before an after.Conlusion: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.The CK shows wave-like change at the early stage of DMD,which indicates that patients still have the normal muscle fibers.So the progression of the disease could be delayed by early intervention for protecting the remaining normal muscle fibers.UC-MSCs transplantation can not cure DMD completely in the long term.So more clinical studies should be performed.