REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

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Little is known about what patients experience when being diagnosed with a genetic disorder and which factors may influence their experience. In order to inform policy on the delivery of genetic diagnoses and improve the experience for patients with rare genetic disorders patients with genetic muscle disorders including; muscular dystrophies, myotonic dystrophy, Pompe disease, ion channel muscle disorders and other myopathies, were asked to describe their experience. A questionnaire designed to elucidate the patients’ experience of receiving their diagnosis was included as part of the assessment of impact of a large nationwide population-based study of the prevalence and impact of genetic muscle disorders, MD Prev.

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