[P3-124] Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients
Fukuyama congenital muscular dystrophy (FCMD), characterized by intellectual deficits and epilepsy with cortical migration defects, is the most common congenital muscular dystrophy in Japan. Most patients die of congestive heart failure or respiratory dysfunction in the second decade of life. In 2013, the Japan Muscular Dystrophy Association developed a registry of FCMD patients in Japan to facilitate patient recruitment for clinical trials and to provide information on the natural history of FCMD. In this study, we retrospectively analyzed the database of the nationwide FCMD registry. From October 2011 through September 2013, 207 Japanese FCMD patients (104 boys and 103 girls) in total were registered. Mean patient age at first registration was 8.1 ± 7.8 years (mean ± SD) (median, 6 years; range, 0-42 years). A homozygous founder 3-kb insertion mutation in the FKTN gene was present in 80% of registrants, while 20% had a compound heterozygous mutation. Sixty-nine patients (33%) suffered febrile seizures and/or epilepsy. Myopia had the highest prevalence (8.7%), followed by strabismus (5.9%). Over age 15 years, 50% of patients showed cardiac dysfunction but this percentage did not change in the older group. Thirty-five patients (17%) needed respiratory support. After age 15 years, the percentage of patients needing respiratory support increased with age. After age 15 years, nearly 40% of patients underwent gastrostomy, though some advanced-stage patients were able to ingest orally even over 25 years of age. The FCMD patient registry is useful for clarifying the natural history of this disease and recruiting patients for clinical trials.