P.346Clinical course and prognosis of inpatients with Fukuyama congenital muscular dystrophy in specialized institutions for muscular dystrophy in Japan

Abstract

Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. We analyzed clinical course and prognosis of inpatients with FCMD registered in the database of wards specialized for muscular dystrophy established in 27 national hospitals. From 1999 to 2013, 135 patients with FCMD were registered. Mechanical ventilation (MV) was introduced to 94 patients (69.7%), and the mean age at MV introduction was 25.1±6.1 years (4∼35). Among 94 patients with MV, 47 had progressed to tracheostomized positive pressure ventilation (TPPV). Tube feeding (TF) was introduced to 97 patients (71.9%), and the mean age at TF introduction was 25.5±5.6 years (17∼37). There were 53 cases of death reported in the database. The mean age of death was 27.3±7.3 years (5.4∼43.6). The causes of death included 15 heart failures, 12 respiratory failures, 8 pulmonary infections, 6 sudden deaths. In our database, clinical progression of FCMD seemed slower than in the Japanese national registry of FCMD reported in Ishigaki et al, 2018. This difference might due to variation of clinical course among FCMD patients, for which any modifier other than FKTN gene mutation should be accountable.