Report: Narrative accounts of parenthood following the death of a child to muscular dystrophy

Five parents were interviewed in this study, describing in depth their experiences from diagnosis to the death of their child.  The study found the diagnosis had significant implications for parental identity along with the loss of particular dreams for their child's future.   They valued the opportunity to retell their 'story" and although painful at times, considered it therapeutic.   A number of new findings were reported in the study.

Summary of findings here

Duchenne Muscular Dystrophy: clinical update

A very good overview of Duchenne Muscular Dystrophy (DMD), from when to suspect DMD, early warning signs, diagnosis and genetic considerations.  It discusses successful management including primary care, multidisciplinary teams, emerging treatments, DMD in adulthood, key complications, and medical emergencies.  The article had a patient co-author.

Fox, H. et al. 2019. Duchenne muscular dystrophy.  BMJ online 23 January 2020.

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Article: A transition toolkit for Duchenne Muscular Dystrophy

The care of individuals with Duchenne Muscular Dystrophy (DMD) now extends into adulthood.  This US guidance looks at transition planning relating to health, education, steps towards working vocations, personal care, accessing the home and community and the importance of relationships with others.  The article provides a comprehensive checklist of things to be considered, discussed and planned during transition.

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Guide: Nutrition guide for young people and adults with Duchenne Muscular Dystrophy (DMD)

DMD Pathfinders is a user-led charity which promotes choice, control and quality of life for teenagers and adults with Duchenne Muscular Dystrophy in the UK.  To produce this guide they worked together with health professionals around the world and the experiences of over 90 adults with DMD and their families who share their stories  The guide covers the nutritional changes that occur over time, how to maintain a healthy diet, ventilation and nutrition, chewing and swallowing problems, feeding tubes, managing constipation, common GI problems and nutrition top tips.

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Article: Duchenne Muscular Dystrophy: Diagnosis and Management Part 3: primary care, emergency management, psychosocial care and transitions of care across the life span

In part 3, the guidance addresses the issues that prolonged survival bring including challenges related to psychosocial issues and transitions of care. It discusses assessments and interventions aimed at improving mental health and independence, functionality and quality of life in the domains of living including health care, education, employment, interpersonal relationships, and intimacy.

Birnkrant, D. J. 2018. Duchenne Muscular Dystrophy: Diagnosis and Management Part 3: primary care, emergency management, psychosocial care and transitions of care across the life span.  Lancet Neurology. May 17 (5) p 445-455.

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Article: Duchenne Muscular Dystrophy Diagnosis and Management: Part 2 - respiratory, cardiac, bone health, and orthopaedic management.

In part 2 of this update, the authors present the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopaedic and surgical management for boys and young men.  It also acknowledges the effects of long-term glucocorticoid use on the natural history of DMD and the need for care guidance across the lifespan as patients live longer.  They acknowledge the management of DMD looks set to change substantially as new genetic and molecular therapies become available.

Birnkrant, D. J. 2018. Duchenne Muscular Dystrophy Diagnosis and Management: Part 2 - respiratory, cardiac, bone health, and orthopaedic management.  Lancet Neurology 17 (4) p 347-361.

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Article: Duchenne Muscular Dystrophy Diagnosis and Management: Part 1 - diagnosis, neuromuscular, rehabilitation, endocrine, gastrointestinal and nutritional management

In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD guidance.  This guidance, published in March 2018 aims to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, , and to consider the implications of emerging genetic and molecular therapies for DMD.  Part 1 of the guidance presents care includes growth, puberty and adrenal insufficiency, nutrition and dysphagia management.

Birnkrant, D J. et al.  2018.  Duchenne Muscular Dystrophy: Part 1 - diagnosis, neuromuscular, rehabilitation, endocrine, gastrointestinal and nutritional management.  Lancet Neurology, March 17 (3) p 251-267.

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[Article] A patient with Duchenne muscular dystrophy in transitional care who wishes to have a child

Many young adults with conditions like Duchenne Muscular Dystrophy (DMD) are living longer, are going through transitional care, and might well have wishes to such as to be in a relationship or even start a family. The authors of this article discuss the ethical considerations around the wish of an adult man with DMD to have a child.

Willis, D., Hart, C. & Willis, T. 2015.  A patient with Duchenne muscular dystrophy in transitional care who wishes to have a child.  European Journal of Palliative Care, 22 (4) p 175 - 177.

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[Article] Review of phase II and phase III clinical trials for Duchenne muscular dystrophy

This paper reviews evidence-based studies for corticosteroids as well as other Phase II and Phase III clinical trials involving potential pharmacological treatments, and replenishment of nutritional deficiencies.  The author also briefly reviews the current status of treatments for genetic mutations and gene therapy.

Sculley, M. A., Pandya, S. & Moxley, R. T. 2013.  Review of phase II and phase III clinical trials for Duchenne muscular dystrophy.  Expert Opinion on Orphan Drugs. 1 (1) p 33 - 36

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