P.8.5 Therapeutic intervention for dysphagia in patients with Fukuyama congenital muscular dystrophy

Abstract

Fukuyama congenital muscular dystrophy (FCMD), the most common CMD in the Japanese population, is characterized by intellectual involvement associated with cortical migration defects. Dysphagia is a serious problem in advanced-stage FCMD patients, and can, along with respiratory dysfunction or cardiomyopathy, be life-threatening. Herein, we retrospectively studied dysphagia and therapeutic interventions in 45 genetically diagnosed FCMD patients followed at our University from 2010 through 2012. Twenty-nine patients (2.8–30.8 years) who could sit on their own or shuffle were classified as having the typical form, accounting for 75% of FCMD. Ten patients (4.9–29 years) who could walk were classified as having mild form and six (2–19 years) lacking head control as having severe FCMD. No mild form patients developed dysphagia. All severe form patients needed tube feeding from infancy and four of the 6 underwent gastrostomy in the early stage (0.5–8.5 years). In 14 typical form patients, dysphagia emerged on average at age ten (7–14) years, showing double peaks, one at 7–9 years in the group whose maximum ability was sitting and the other at 12–14 years in the shuffling group. Ten typical form patients (5.5–17.5, median 12.9 years) underwent gastrostomy, five had early-stage elective surgery at the family’s request and 5 had absolute indications. Four patients (15.5–19.3 years) urgently needed tracheostomy or laryngo-tracheal separation after episodes of aspiration pneumonia or suffocation, though their respiratory dysfunction was not particularly severe. In FCMD patients, dysphagia emerged earlier than respiratory dysfunction and required active intervention. Gastrostomy at an early stage was beneficial and well-tolerated, though saliva/sputum aspiration remained uncontrollable since mechanical insufflator-exsufflator is occasionally ineffective for uncooperative patients with severe mental retardation.