P.8.3 Chronic respiratory failure in patients with Fukuyama congenital muscular dystrophy.

Fukuyama congenital muscular dystrophy (FCMD) is the second most common type of muscular dystrophy in Japan. It is an autosomal recessive disorder caused by mutation in fukutin, characterised by central nervous system involvement. Progressive respiratory dysfunction typically emerges early in the second decade of life, and if left untreated, death usually occurs in the late teens from chronic respiratory failure (CRF) or cardiac dysfunction. Nowadays, non-invasive positive pressure ventilation (NPPV) has been used as an effective therapy, although tracheostomy with invasive ventilation (TIV) may be needed in some cases. We retrospectively reviewed the clinical records of 51 genetically diagnosed patients with FCMD. Mean age of the last case observed was 12±5.6years. CRF was diagnosed on the basis of percutaneous oxygen saturation, end-tidal carbon dioxide and blood gas analysis. Nineteen patients developed CRF, and the mean age of onset was 12±5.2years. Nine and 10 patients had a founder homozygous mutation (homozygotes) and a compound heterozygous mutation (heterozygotes), respectively. Eleven patients who could sit on their own were classified as a typical form, and 6 who could not gain head control were classified as a severe form. Although the mean age of CRF onset in the typical form was lesser than that in the severe form (13±2.8years vs. 9.6±5.2years, respectively). NPPV therapy was initiated in all patients with CRF; however, 2 patients needed TIV later because infection caused difficulties in extubation. Some patients had difficulty using masks for NPPV and were non-cooperative because they had cognitive problems or could not keep closing their mouth because of facial muscle weakness. However, these problems were solved using different types of mask or ventilation settings. In conclusion, patients with the severe form of FCMD and heterozygous mutations developed CRF much earlier than those with the typical form. [ABSTRACT FROM AUTHOR]