title: Living with a hereditary disease: persons with muscular dystrophy and their next of kin.
abstract: This qualitative study describes conceptions and experiences of the hereditary aspect of muscular dystrophy (MD) from both the patients' and the next of kin's perspective. Different diagnoses of MD are included: dystrophia myotonica, myopathia distalis tarda hereditaria, Becker MD, facioscapulohumeral MD, limb-girdle MD, Emery-Dreifuss and undetermined proximal MD (Duchenne MD is not included). Interviews were conducted with 46 persons with MD and 36 next of kin. The interviews were subjected to inductive content analysis. Only two in each group did not spontaneously mention anything related to the fact that MD is disease with dominant or recessive inheritance. It was found that heredity has a prominent place in the thoughts and feelings of the family. These thoughts were classified as Becoming aware of MD and its hereditary nature, looking into the pedigree, acquiring an understanding of MD, thoughts about genetic testing, interpreting the risk, whether to have children or not, feelings related to the future, and feelings of responsibility and guilt. Families with MD need medical information and the opportunity for genetic testing as well as support and counseling in coming to terms with living with a hereditary disease, whether or not that includes a decision to take a test.
authors.affiliation: The Swedish Institute for Disability Research, Orebro and Linköping universities, Orebro, Sweden. katrin.bostrom@orebroll.se
authors.forename: Katrin
authors.initials: K
authors.lastname: Boström
authors.forename: Gerd
authors.initials: G
authors.lastname: Ahlström
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005192:Family Health; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology; D006266:Health Education; D006801:Humans; D007407:Interviews as Topic; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D010375:Pedigree; D012307:Risk Factors; D013548:Sweden