Dysphagia, which is common and yet still poorly recognised in myopathy, affects both children and adults, and occurs both at the start of the disease and at a later stage. Specifically, it affects the first stages of swallowing, and therefore voluntary muscle activity of the mouth, pharynx and upper oesophageal sphincter. It manifests via different symptoms (slow eating, difficulty chewing, regurgitation, aspiration, malnutrition and dehydration), to the point where patients often prefer not to eat in public. Therefore, it impacts patient quality of life and can increase morbidity and mortality.
In January 2021, a journal published a review of dysphagia conducted among adults with myopathy: symptoms, evaluation tools, treatments, etc. The main diseases concerned include:
– Oculopharyngeal muscular dystrophy (OPMD) and oculopharyngeal distal myopathy, in which dysphagia is one of the major symptoms;
– Myotonic dystrophy, and more specifically myotonic dystrophy type 1, with a dysphagia prevalence of between 25 and 80%, depending on the duration and severity of the disease;
– Facioscapulohumeral muscular dystrophy, in which dysphagia could be due to weakness of the face muscles;
– Mitochondrial myopathies, with dysphagia symptoms reported in all types (MELAS, MERRF and Kearns-Sayre syndrome, etc.);
– Duchenne and Becker muscular dystrophy, with difficulty chewing and swallowing, in particular due to orofacial muscle weakness;
– Limb-girdle muscular dystrophy, with less frequent dysphagia compared to Duchenne Muscular Dystrophy, and not affecting all forms;
– Pompe disease, in particular due to weakness of the tongue;
– Idiopathic inflammatory myopathy, where dysphagia is due to inflammation of the muscles used in swallowing
Dysphagia in adult myopathies. Z Argov, M de Visser. Neuromuscul Disord. 2021 (Janv).
