Objective To study the characteristics of gene detection and skeletal muscle biopsy in 18 cases of myotonic dystrophy(DM).Methods A total of 18 DM patients admitted to Daqing Longnan Hospital from January 2022 to January 2024 were retrospectively selected as the study objects,and their clinical data,genetic detection and skeletal muscle biopsy results were analyzed to assist diagnosis.Results(CTG)n/(CCTG)n molecular detection showed that there were 2 cases of myotonic dystrophy type Ⅱ(DM2)and 16 cases of myotonic dystrophy type Ⅰ(DM1)in 18 DM patients.All of the 18 DM patients showed typical myotonic potential,and 10 showed myopathic potential.There were 2 cases of DM2 patients with proximal limb muscle complicated with heart involvement,and 16 cases of DM1 patients with distal limb muscle weakness,muscle atrophy and muscle rigidity,and reproductive,cardiac and other system involvement.Skeletal muscle biopsy showed typical nuclear aggre-gation,central nucleus,inucleation and sarcoplasmic mass in 18 DM patients.In 16 DM1 patients,ATPASE staining showed myogenic clustering/dominance of type Ⅱ muscle fibers and atrophy of typical type Ⅰ muscle fibers.In a few patients,necrosis and degeneration of some muscle fibers were the main manifestations,and regenerated muscle fibers were also observed,with a significant decrease of oxidase activity in focal areas,mod-erate or severe connective tissue hyperplasia,and changes in axonoidosis and worm eating.The ATPASE staining of DM2 patients showed atrophy of typical type Ⅱ muscle fibers,predominance of type Ⅰ muscle fibers,combined with mild muscle fiber necrosis and degeneration,and mild con-nective tissue hyperplasia.Conclusion The application of molecular biological detection in DM diagnostic classification is effective.The clinical phenotype of DM1 patients is heavier than that of DM2 patients.The typical pathological changes of skeletal muscle in DM patients are mainly nu-clear inward migration,central nucleus and nuclear aggregation.The difference of pathological features between DM1 and DM2 patients mainly lies in the difference of muscle fiber group distribution and nuclear contraction.Biopsy skeletal muscle pathology plays an auxiliary role in early stage DM2 screening and prediction.
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