Muscular Dystrophy
What Is Muscular Dystrophy?
Muscular dystrophy (MD) refers to a group of inherited genetic disorders characterised by progressive weakening and degeneration of the muscles that control movement. The most common and severe form in children is Duchenne Muscular Dystrophy (DMD), caused by a mutation in the dystrophin gene on the X chromosome, affecting almost exclusively boys. Other forms include Becker MD, limb-girdle MD, facioscapulohumeral MD (FSHD), and congenital MD.
Symptoms and Disease Progression
In DMD, early symptoms — waddling gait, difficulty climbing stairs, frequent falls, and calf pseudohypertrophy — typically appear between ages 3–5. The ability to walk is usually lost between ages 9–12 without treatment. Respiratory muscle weakness and cardiomyopathy become significant in the later stages. New disease-modifying treatments (exon-skipping therapies, corticosteroids) are slowing this progression.
Rehabilitation at ROMMER
Rehabilitation in muscular dystrophy is not about curing the disease — it is about preserving function for as long as possible, preventing complications, and maintaining quality of life at every stage:
- Ambulatory Phase: Stretching and strengthening exercises to delay contracture formation and prolong walking ability. Gentle aerobic activities (swimming, cycling) maintain cardiovascular fitness without overloading weakened muscles.
- Transition to Wheelchair: Power wheelchair prescription, seating and posture optimisation, and upper limb function training to maintain independence.
- Respiratory Physiotherapy: Breathing exercises, assisted cough techniques (manual, mechanical insufflation-exsufflation), and secretion clearance to protect respiratory capacity. Non-invasive ventilation (NIV) support when indicated.
- Contracture and Scoliosis Management: Regular stretching, night splinting, and spinal orthoses to slow progression. Surgical scoliosis correction is planned when indicated in collaboration with spinal surgery.
- Cardiac Rehabilitation: Monitored low-intensity exercise programme to support cardiac function, in coordination with cardiology.
- Occupational Therapy: Adaptive equipment, home modifications, and assistive technology to support participation in education and daily life.
Psychosocial Support
Living with a progressive condition profoundly affects children and families. At ROMMER, psychological support, peer connection, and family counselling are integral parts of the care plan — not add-ons.
Frequently Asked Questions
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