Abstract
Nemaline myopathy (NM) and related disorders (NMr) are ultrarare congenital myopathies with severity varying from mild muscle- or muscle group-specific weakness to a neonatally lethal disorder. Medical and biomedical studies of NM and NMr have dominated the research field, whereas little is known about coping in everyday life among persons with NM. To study the lived experience of physical, psychological and social functioning of adult NM and NMr patients in Finland, we conducted a survey using items primarily from PROMIS® (Patient Reported Outcomes Measurement Information System) questionnaires. The impact of the COVID-19 pandemic on functioning was also assessed. The items were linked to the International Classification of Functioning, Disability and Health (ICF) categories. In total, 20 persons aged 19-75 years and resident in Finland participated in the study; 12 had NM and eight NMr; 15 were women and five men. Sixteen were ambulatory and four used wheelchairs. Non-ambulatory patients reported more problems in all areas of functionality. However, there was a large variability in the functioning of the participants. The differences were smaller in the psychological and social functioning. In addition, the COVID-19 pandemic had affected the functioning of non-ambulatory patients more than that of ambulatory patients. The results indicate that patients using wheelchairs and patients dependent on the help of others might be more vulnerable and prone to impairments in general and social functioning especially during pandemics. Possible explanations include further restriction of their participation in social life and restricted access to physical rehabilitation services due to the pandemics. To our knowledge, this pilot study is the first study on self-experienced functioning of persons with rare congenital muscle disorders, and the results indicate on the need for expanding this study nationally and internationally.
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