From the Guidelines
Muscular dystrophy in children presents with several key signs including progressive muscle weakness, delayed motor milestones, frequent falls, difficulty rising from the floor (Gowers' sign), enlarged calf muscles (pseudohypertrophy), waddling gait, and scoliosis. Management of muscular dystrophy requires a multidisciplinary approach focusing on supportive care rather than cure. The primary medications that can slow disease progression by reducing inflammation and preserving muscle strength are corticosteroids like prednisone (0.75 mg/kg/day) or deflazacort (0.9 mg/kg/day) 1. Physical therapy (3-5 sessions weekly) helps maintain mobility and prevent contractures, while occupational therapy assists with daily activities. Respiratory support may include incentive spirometry, assisted coughing techniques, and eventually non-invasive ventilation as the disease progresses. Cardiac monitoring with annual echocardiograms is essential, with ACE inhibitors like enalapril (0.1 mg/kg/day initially) often prescribed prophylactically 1. Genetic counseling should be offered to families, as most forms of muscular dystrophy are inherited. Early intervention is crucial because muscular dystrophy causes progressive degeneration of muscle fibers that are gradually replaced by fat and connective tissue, leading to increasing weakness over time. While there is no cure, comprehensive management can significantly improve quality of life and extend lifespan. Some key points to consider in the management of muscular dystrophy include:
- Regular visits and routine immunizations by a primary care physician as recommended for well children by the American Academy of Pediatrics 1
- Access to specialists in pulmonology, neurology, cardiology, nutrition, physical medicine, orthopedic surgery, mental health, sleep medicine, and social work 1
- Palliative care to relieve or prevent suffering and to improve quality of life in patients who have DMD, as needed 1
- A multidisciplinary team approach to caring for patients with DMD, with the patient and family actively engaging with the medical professional who coordinates clinical care 1
- The use of internet resources, such as www.childmuscleweakness.org, for clinicians to view both typical and atypical motor findings, and for families to access specific resources tailored to their needs 1
- The development of respiratory care guidelines for DMD, which include key recommendations for clinical practice, such as the use of non-invasive ventilation and cough assist devices 1
From the Research
Signs of Muscular Dystrophy in Children
- Delayed motor milestones, such as sitting, standing, or walking 2
- Muscle weakness, particularly in the proximal muscles (those closest to the trunk of the body) 2
- Enlarged calf muscles (pseudohypertrophy) 2
- Difficulty running, jumping, or climbing stairs 2
- Frequent falls or difficulty getting up from a fall 2
Management of Muscular Dystrophy in Children
- Genetic testing to confirm the diagnosis and guide management 3, 4
- Gene therapies, such as exon-skipping or gene replacement, may be available for certain types of muscular dystrophy 3, 5
- Physical therapy to maintain muscle strength and function 2
- Occupational therapy to assist with daily activities and mobility 2
- Referral to a neuromuscular specialist for comprehensive care and management 2
- Consideration of gene-based therapies, such as microdystrophin gene replacement, which have shown promise in clinical trials 3
- Use of small molecules, such as Ataluren (PTC124), to promote readthrough of the DMD gene 5