BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affecte...BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affected by this disease,while myocardial involvement is uncommon.However,with improvements in genetic testing technology,it has been found that NM with a mutation in the myopalladin(MYPN)gene not only causes slow,progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.CASE SUMMARY A 3-year-old pre-school boy was admitted to our hospital with cough,edema,tachypnea,and an increased heart rate.The patient was clinically diagnosed with severe dilated cardiomyopathy and heart failure,and subsequent gene examination confirmed the diagnosis of NM with a mutation in MYPN.Captopril,diuretics,low-dose digoxin,and dobutamine were administered.After 22 d of hospitalization,the patient was discharged due to the improvement of clinical symptoms.During the follow-up period,the patient died of refractory heart failure.CONCLUSION Decreased muscular tone and dilated cardiomyopathy are common features of MYPN-mutated NM.Heart transplantation may be a solution to this type of cardiomyopathy.展开更多
We presented a letter about a case of a 37-year-old Black female with a history of human immunodeficiency virus and an undetectable viral load.She was evaluated with weakness in the scapular(grade III)and pelvic girdl...We presented a letter about a case of a 37-year-old Black female with a history of human immunodeficiency virus and an undetectable viral load.She was evaluated with weakness in the scapular(grade III)and pelvic girdles(grade II),elevation of creatine phosphokinase levels and muscle biopsy compatible with nemaline myopathy.She was treated with rituximab showing improvement of the condition.展开更多
基金the Sichuan Province Science and Technology Support Program of China。
文摘BACKGROUND Nemaline myopathy(NM)is a rare type of congenital myopathy,with an incidence of 1:50000.Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness.Skeletal muscles are always affected by this disease,while myocardial involvement is uncommon.However,with improvements in genetic testing technology,it has been found that NM with a mutation in the myopalladin(MYPN)gene not only causes slow,progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.CASE SUMMARY A 3-year-old pre-school boy was admitted to our hospital with cough,edema,tachypnea,and an increased heart rate.The patient was clinically diagnosed with severe dilated cardiomyopathy and heart failure,and subsequent gene examination confirmed the diagnosis of NM with a mutation in MYPN.Captopril,diuretics,low-dose digoxin,and dobutamine were administered.After 22 d of hospitalization,the patient was discharged due to the improvement of clinical symptoms.During the follow-up period,the patient died of refractory heart failure.CONCLUSION Decreased muscular tone and dilated cardiomyopathy are common features of MYPN-mutated NM.Heart transplantation may be a solution to this type of cardiomyopathy.
文摘We presented a letter about a case of a 37-year-old Black female with a history of human immunodeficiency virus and an undetectable viral load.She was evaluated with weakness in the scapular(grade III)and pelvic girdles(grade II),elevation of creatine phosphokinase levels and muscle biopsy compatible with nemaline myopathy.She was treated with rituximab showing improvement of the condition.
