With improved treatment and increased life expectancy come new challenges for patients with Duchenne muscular dystrophy and their families, as well as new demands on the support services. This patient group requires close and comprehensive follow-up, also in the transition from child to adult.
Myotonic Dystrophy (DM) is a progressive multi-systemic disorder characterized by myotonia and muscle weakness where currently no effective treatment or cure to prevent or delay the disorder exists. This study used mixed methods to examine the experience of living with DM, in patients and their close relatives. Thirteen patients and eight next of kin responded completing Quality of Life and Psychological distress questionnaires in this cross-sectional study, and participating in a semi-structured interview. The findings indicate a higher level of anxiety and hopelessness in next of kin compared to patients, while patients were more depressed. Next of kin reported higher physical, but lower emotional quality of life than patients. Qualitative interviews confirmed the questionnaire findings. The findings from this study may be helpful in genetic counseling. Genetic counselors and geneticists should not only be aware of the burden of being a next of kin, but include discussions about opportunities to minimize the burden in families affected with DM. The findings may be of relevance in counseling for other types of neuromuscular disorders.
Results-Tidal expiratory volume (V E )and compliance of the respiratory system (CRS) tended to be higher in the sitting compared to the supine position, but this was not statistically significant. However, applying bracing in the sitting position significantly reduced V E . The highest values of CRS and V E were found in the sitting position without bracing. Conclusion-Impairment of tidal respiration must be considered when applying spinal bracing in very young children developing scoliosis with SMA. (Arch Dis Child 2001;84:521-524)
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