%0 Case Reports
%T Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report.
%A Zhan L
%A Lv L
%A Chen X
%A Xu X
%A Ni J
%J Medicine (Baltimore)
%V 101
%N 1
%D Jan 2022 7
%M 35029900
%F 1.817
%R 10.1097/MD.0000000000028484
%X <B>BACKGROUND: </B>Mutations in Bcl-2-associated athanogene-3 (BAG-3) can cause a rare subtype of myofibrillar myopathies (MFMs), characterized by progressive muscle weakness, cardiomyopathy, and severe respiratory insufficiency in childhood. Little is known about diaphragmatic function in BAG-3 MFM. To our knowledge, this is the first case report of detailed evaluation of diaphragmatic function with ultrasound in BAG-3 MFM.<BR><B>METHODS: </B>We describe the case of a 15-year-old girl who complained of fever and shortness of breath. Diaphragmatic sonography revealed bilateral diaphragmatic paralysis. Shortness of breath progressed to respiratory failure approximately 3 months later.<BR><B>METHODS: </B>A neurologist was consulted and genetic sequencing identified a p.Pro209Leu mutation in BAG-3, yielding diagnosis of BAG-3 MFM leading to bilateral diaphragmatic paralysis.<BR><B>METHODS: </B>Respiratory muscle training and long-term mechanical ventilation.<BR><B>RESULTS: </B>It is quite unfortunate for this patient to have a poor prognosis due to the lack of effective treatment for this genetic disorder.<BR><B>CONCLUSIONS: </B>This case provides more clinical information for this rare disease which may cause severe diaphragm pathological damage leading to respiratory failure in BAG3 MFM and a future study with a systematic evaluation of a greater number of patients will be necessary to characterize this population.