Recent advances in the management of Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is the commonest inherited neuromuscular disorder of childhood and mainly affects males. Over the course of the last century, the average life expectancy of these patients has doubled and now stands at ∼25 years. This progress has been made possible through advances in the diagnosis, treatment and long-term care of patients with DMD. Basic and clinical research, national and international scientific networks, and parent and patient support groups have all contributed to achieving this goal. The advent of molecular genetic therapies and personalised medicine has opened up new avenues and raised hopes that one day a cure for this debilitating orphan disease will be found. The main purpose of this short review is to enable paediatricians to have informed discussions with parents of boys with DMD about recent scientific advances affecting their child's clinical care.

What explains high life satisfaction in men living with Duchenne muscular dystrophy? A preliminary study to inform psychological intervention

“…Improved symptomatic treatments have resulted in increased life expectancy in men with Duchenne muscular dystrophy (mDMD); nowadays 60% will live into their 20s and beyond . Thus, there is a growing population of mDMD whose needs must be met by health services . Studies of well‐being (measuring quality of life or life satisfaction [LS]) in mDMD demonstrate that, although physical aspects are reduced, psychosocial aspects remain relatively intact .…”

“…1 Thus, there is a growing population of mDMD whose needs must be met by health services. 2 Studies of well-being (measuring quality of life or life satisfaction [LS]) in mDMD demonstrate that, although physical aspects are reduced, psychosocial aspects remain relatively intact. 3,4 However, there are some exceptions, 5 and reflecting this, best practice guidelines recommend that multi-disciplinary care teams should be equipped to manage problematic mood (depression/anxiety etc.)…”

Whole-Body Vibration Exercise Is Well Tolerated in Patients With Duchenne Muscular Dystrophy: A Systematic Review

“…DMD affects only males (Strehle, 2015). Signs of myopathy may be detected from birth through laboratory findings although the clinical sign usually occurs later between two and three years of age (Gardner-Medwin, 1980;McDonald, 2012).…”

“…Serum CK concentrations are elevated in these patients and usually exceed 1000 IU/L and can be as high as 30 000 IU/L (Strehle, 2015). CK levels however are a poor indicator of disease progression and are not routinely measured once the diagnosis has been established (Strehle, 2015). Mirski and Crawford (2014) have described that children with DMD might have different degrees of mild cognitive impairment or global developmental delay.…”

“…Creatine kinase (CK) blood levels are often utilized as diagnostic markers for DMD (Cacchiarelli, 2011). Serum CK concentrations are elevated in these patients and usually exceed 1000 IU/L and can be as high as 30 000 IU/L (Strehle, 2015). CK levels however are a poor indicator of disease progression and are not routinely measured once the diagnosis has been established (Strehle, 2015).…”