GASTROINTESTINAL COMPLICATION IN BECKER MUSCULAR DYSTROPHY.:

Duchenne Muscular Dystrophy (DMD) and its variant Becker Muscular Dystrophy (BMD) are caused by mutations of dystrophin structural gene located on chromosome X. In DMD dystrophyn production is absent whereas in BMD is reduced. BMD has a milder clinical history than DMD except for cases of “severe Becker”. In BMD a generalized muscular pseudohypertrophy leads to progressive muscle weakening and cardiomiopathy. We observed the case of two brothers with BMD characterised by progressive heart failure associated to gastrointestinal symptoms. The main gastrointestinal symptoms complained were:abdominal pain arising initially after the ingestion of large amount of food but becoming soon frequent also after normal meals, constipation, nausea and vomiting; dysphagia, intestinal pseudoobstruction. The impairment of visceral motility was documented in one case by esophageal manometry wich showed LES pressure of 20 mmHg and post- deglutitive waves of amplitude < 20 mmHg in 20% of cases. After one year the same patient had LES pressure of 14 mmHg and absence of post-deglutitive contractions. Gastrointestinal symptoms are often underestimated in patients with neuromuscular diseases. We suggest to thoroughly evaluate these symptoms that often precede the impairment of cardiac muscle function leading to heart failure. Gastrointestinal smooth muscles might be involved in BMD as already reported for DMD