Living and ageing with spinal muscular atrophy type 2: observations among an unexplored patient population.

OBJECTIVE: To study conditions of living, participation and diagnostic perceptions in a national population of adult persons with spinal muscular atrophy type 2 (SMA 2). METHODS: A mixed method design combining cross-sectional survey data with personal narratives was chosen. Twenty-nine of 37 patients with SMA 2 aged >or=18 years participated in a semi-structured questionnaire survey and three were selected for in-depth journalistic interviews. Socioeconomic data, activities and personal significance of problems were calculated. Journalistic stories were analysed for constructs of personal diagnostic qualities. RESULTS: Everyone was actively directing their life despite being heavily dependent. Deterioration of physical abilities was a major concern for women. Seventy-six per cent were single, but stated their quality of life as fine. Narratives of living with SMA 2 were associated with positive characteristics, as opposed to the medical diagnostic wording. CONCLUSION: Female coping needs more research. Narrative method complements medical knowledge.

Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population.

The knowledge of adult life with Duchenne muscular dystrophy (DMD) is sparse. The purpose of this study was to review existing information and describe body functional, social participatory and quality of life profiles of the ordinary adult Danish DMD patient. Sixty-five study subjects aged 18-42 years were included in a cross-sectional survey based on data from a semi-structured questionnaire comprising 197 items. The ordinary adult DMD patient states his quality of life as excellent; he is worried neither about his disease nor about the future. His assessment of income, hours of personal assistance, housing, years spent in school and ability to participate in desired activities are positive. Despite heavy immobilization, he is still capable of functioning in a variety of activities that are associated with normal life. He lacks qualifying education and he is in painful need of a love life. The frequency of pains is surprisingly high; nearly 40% has pains daily. The nature, magnitude, consequence and possible cure of these reported pains must be scrutinized. Parents and professionals, paediatricians not the least, must anticipate in all measures taken that the DMD boy grows up to manhood and will need competences for adult social life in all respects.