BACKGROUND Myotonic dystrophy type 1(DM1)is a genetic neuromuscular disease involving multiple systems,especially the cardiopulmonary system.The clinical phenotype of DM1 patients is highly variable,which limits early...BACKGROUND Myotonic dystrophy type 1(DM1)is a genetic neuromuscular disease involving multiple systems,especially the cardiopulmonary system.The clinical phenotype of DM1 patients is highly variable,which limits early diagnosis and treatment.In the present study,we reported a 35-year-old female DM1 patient with dyspnea as the primary onset clinical manifestation,analyzed her family's medical history,and reviewed related literature.CASE SUMMARY A 35-year-old woman was admitted to the hospital with dyspnea of 1 mo duration,and sleep apnea for 3 d.Her respiratory pattern and effort were normal,but limb muscle tension was low.Investigation into the patient's medical history revealed that she might have hereditary neuromuscular disease.Electromyography showed that her myotonia potentials were visible in the resting state of the examined muscles,with decreased motor unit potential time limit and amplitude.Genetic testing for DM1 revealed that the cytosine-thymine-guanine(CTG)repeat number of the DMPK gene exceeded 50,while cytosine-CTG expansion in intron 1 of ZNF9 gene was<30 repeats.The patient was diagnosed with DM1.CONCLUSION DM1 is a genetic neuromuscular disease involving multiple systems,and the clinical phenotype in DM1 is extremely variable.Some patients with DM1 may be presented at the respiratory department because of dyspnea,which should be cautioned by the pulmonologists.There may be no obvious or specific symptoms in the early stage of disease,and clinicians should improve their understanding of DM1 and make an early diagnosis,which will improve patients’quality of life.展开更多
强直性肌营养不良1型(myotonic dystrophy type 1,DM1)是一种罕见的常染色体显性遗传病,可累及肌肉、心脏、晶状体、内分泌腺、中枢神经系统等。临床分为先天型DM1、儿童型DM1、经典成人型DM1、轻症晚发型DM1共4型。先天型DM1症状重、...强直性肌营养不良1型(myotonic dystrophy type 1,DM1)是一种罕见的常染色体显性遗传病,可累及肌肉、心脏、晶状体、内分泌腺、中枢神经系统等。临床分为先天型DM1、儿童型DM1、经典成人型DM1、轻症晚发型DM1共4型。先天型DM1症状重、病死率高,目前国内仅查到1篇文献报道,且患儿于生后28 d内死亡。本文报告1例目前生长发育良好的先天型DM1患儿的临床特征、DMPK基因检测结果、治疗及随访情况。展开更多
文摘BACKGROUND Myotonic dystrophy type 1(DM1)is a genetic neuromuscular disease involving multiple systems,especially the cardiopulmonary system.The clinical phenotype of DM1 patients is highly variable,which limits early diagnosis and treatment.In the present study,we reported a 35-year-old female DM1 patient with dyspnea as the primary onset clinical manifestation,analyzed her family's medical history,and reviewed related literature.CASE SUMMARY A 35-year-old woman was admitted to the hospital with dyspnea of 1 mo duration,and sleep apnea for 3 d.Her respiratory pattern and effort were normal,but limb muscle tension was low.Investigation into the patient's medical history revealed that she might have hereditary neuromuscular disease.Electromyography showed that her myotonia potentials were visible in the resting state of the examined muscles,with decreased motor unit potential time limit and amplitude.Genetic testing for DM1 revealed that the cytosine-thymine-guanine(CTG)repeat number of the DMPK gene exceeded 50,while cytosine-CTG expansion in intron 1 of ZNF9 gene was<30 repeats.The patient was diagnosed with DM1.CONCLUSION DM1 is a genetic neuromuscular disease involving multiple systems,and the clinical phenotype in DM1 is extremely variable.Some patients with DM1 may be presented at the respiratory department because of dyspnea,which should be cautioned by the pulmonologists.There may be no obvious or specific symptoms in the early stage of disease,and clinicians should improve their understanding of DM1 and make an early diagnosis,which will improve patients’quality of life.
文摘强直性肌营养不良1型(myotonic dystrophy type 1,DM1)是一种罕见的常染色体显性遗传病,可累及肌肉、心脏、晶状体、内分泌腺、中枢神经系统等。临床分为先天型DM1、儿童型DM1、经典成人型DM1、轻症晚发型DM1共4型。先天型DM1症状重、病死率高,目前国内仅查到1篇文献报道,且患儿于生后28 d内死亡。本文报告1例目前生长发育良好的先天型DM1患儿的临床特征、DMPK基因检测结果、治疗及随访情况。
