Abstract
Nemaline myopathy (NM) constitutes a clinically and genetically heterogeneous spectrum of muscle disorders. Until very recently, little or no scientific attention has been paid to the lived experience and functioning of people with neuromuscular disorders. The same is true for the impact of eating and nutrition on the daily life of these patients. Persons with NM often have weakness of the facial and bulbar muscles and secondary structural abnormalities of the oral region, complicating eating and swallowing, and likely affecting their nutritional state. Many patients with neuromuscular disorders use tube-feeding. Our aim is to conduct a pilot study in Finnish patients with NM (n = 30) to start building knowledge on nutrition, food intake and eating, and their correlation with physical, psychological and social functioning as well as lived experience in persons with NM. We hypothesize that nutrition plays a big role in the health and general wellbeing of people with neuromuscular disorders. To test this hypothesis, we will explore the patients’ subjective perceptions of their functioning. We aim to find out, which areas of functioning (social, psychological or physical) might need attention and which are less problematic. Better knowledge of the issues relating to nutrition, gastrointestinal function and functional capacity of patients with NM would enable the development of nutritional recommendations specifically for them. This multi-professional study will be carried out using questionnaires (food diaries, eating frequency questionnaires and internationally validated PROMISⓇ-questionnaires to study functioning) and blood analyses of nutritional parameters. When the international study of the natural course of NM starts, we will be able to add detailed clinical and imaging data from this pilot study, and compare it to a previous follow-up study of the same patients done 30 years ago.
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