Congenital Muscular Dystrophy (CMD)
- Respiratory failure in CMD may present without the usual signs of respiratory distress. Always consider underlying respiratory failure.
- If presenting with respiratory symptoms or oxygen need, measure SpO2 in air and CO2 (transcutaneous, end-tidal or blood gas).
- Titrate oxygen therapy to achieve SpO2 94-98% and monitor CO2.
- If CO2 is raised, consider early initiation of mask ventilation.
- Manage respiratory infections with chest physiotherapy, and consider use of nebulised saline and in-exsufflator (cough assist device).
- For hypersecretion, consider oral atropine drops.
- Collect cough swab or sputum for culture and use broad-spectrum antibiotics.
- The likelihood of heart involvement depends on the underlying CMD mutation and this guides the intensity of cardiac surveillance (i.e. Echo and ECG).
- Cardiomyopathy occurs commonly in MDC1C (fukutin mutation) around age 10 years, progressing to heart failure. Periodic cardiac imaging is recommended from diagnosis.
- LV-dysfunction may be mild or non-progressive (MDC1A; FKRP).
- Even asymptomatic LV-dysfunction should be treated empirically with conventional regimes (e.g. ACE-inhibitors or angiotensin-receptor blockers; +/- beta-blockers; etc.).
- The possibility of severe LV-dysfunction should be considered when CMD patients present acutely or for other aspects of their condition.
Speech and Language Therapy/Swallowing
- Swallowing difficulties can be common in CMD.
- Refer to a specialist Speech and Language Therapist for an up-to-date swallowing assessment and/or the nutrition team for consideration of alternative means of hydration/nutrition, such as gastrostomy.
- Low-energy fractures can occur in children with poor mobility and joint contractures.
- In the limbs, these can appear as ‘greenstick’ or impacted fractures and can be difficult to see on X-ray.
- A high level of suspicion is required if a child has minor trauma, pain, tenderness and limited, reduced mobility.
- Refer to specialist paediatric orthopaedic services for fracture management.
GI Nutritional issues
- Gastrostomy tube leakage can occur and may need replacement.
- If tube is removed/or falls out it is important to keep entry site open using XX and to contact the gastrointestinal specialist as soon as possible.