Key Management of Congenital Myopathies
- If respiratory issues are a feature in the younger child, it is important that respiratory management is prioritised by the specialist respiratory teams.
- It is important that the families are aware of the clinical course of these myopathies and that mobility may well be delayed.
- Any walking aids should be as light as possible due to upper limb weakness.
- Consider early referral for a wheelchair in those with limited ambulatory ability. Electric or power assisted wheelchairs may also be useful.
- KAFOs maybe appropriate for some children – liaise with specialist centres for assessment and provision of these.
- Footwear should be kept light so they do not cause fatigue.
- Stretches / orthotics and gaiters may be useful to maintain range of motion but ensure they do not impede function.
- It is important to manage posture and provide 24-hour postural management.
- Non ambulant children may benefit from a standing frame.
- Spinal bracing maybe needed to improve arm function in those with a weak trunk.
- Activity and exercise are of course important but monitor respiratory impact carefully in those where this is an issue. Muscle cramps quite common in central core disease a may need to be managed with massages, warmth, warm baths etc.
- Fatigue is a common symptom and advice should be given on pacing and the use of a buggy for longer distances.
