Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management

Abstract

Purpose: Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia). Recent studies on dysphagia in DMD clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little guidance is available for its management. This paper aims to provide a step-by-step algorithm to facilitate clinical decisions regarding dysphagia management in this patient population. Methods: This algorithm is based on 30 years of clinical experience with DMD in a specialised Centre for Neuromuscular Disorders (Inkendaal Rehabilitation Hospital, Belgium) and is supported by literature where available. Results: Dysphagia can worsen the condition of ageing patients with DMD. Apart from the difficulties of chewing and oral fragmentation of the food bolus, dysphagia is rather a consequence of an impairment in the pharyngeal phase of swallowing. By contrast with central neurologic disorders, dysphagia in DMD accompanies solid rather than liquid intake. Symptoms of dysphagia may not be clinically evident; however laryngeal food penetration, accumulation of food residue in the pharynx and/or true laryngeal food aspiration may occur. The prevalence of these issues in DMD is likely underestimated. Conclusions: There is little guidance available for clinicians to manage dysphagia and improve feeding for young men with DMD. This report aims to provide a clinical algorithm to facilitate the diagnosis of dysphagia, to identify the symptoms and to propose practical recommendations to treat dysphagia in the adult DMD population.Implications for RehabilitationLittle guidance is available for the management of dysphagia in Duchenne dystrophy.Food can penetrate the vestibule, accumulate as residue or cause aspiration.We propose recommendations and an algorithm to guide management of dysphagia.Penetration/residue accumulation: prohibit solid food and promote intake of fluids.Aspiration: if cough augmentation techniques are ineffective, consider tracheostomy.

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

“…Anticipatory assessment for dysphagia is important and should be done regularly. 118 Screening questions should focus on perceived difficulty with swallowing of liquids and solids, perception of food sticking in the throat, time necessary to eat an average meal, and interference of eating with quality of life. 119 If a patient responds to screening questions in the affirmative, the speech-language pathologist should be consulted for a comprehensive assessment, including a video fluoroscopic swallowing study.…”

Screening and evaluation tools of dysphagia in children with neuromuscular diseases: a systematic review

“…First, all assessments that involve large volumes of liquids may put the patient at risk of aspiration and choking. Second, they only provide a snapshot in time and do not consider factors such as fatigability or ventilation . Fatigue is an important factor in patients with muscle weakness.…”

“…Impaired swallow, also called dysphagia, is a frequent symptom in NMD that occurs in 34.9% to 80% of patients, depending on the disease age group and the severity . Prevalence in paediatric patients with neuromuscular diseases (pNMD) seems to be similar to adult patients .…”

Reliability and validity of the Karaduman Chewing Performance Scale in paediatric neuromuscular diseases: A system for classification of chewing disorders

“…The current study indicated that 70.6% of children with NMDs had chewing disorder at different levels. There are studies which reported the presence of chewing problems in children with NMDs and its possible reasons . However, there is no study to show the specific nature of the chewing disorders in these children in the literature.…”