What it is
Newer treatments, such as gene therapy and medicines that boost a key protein, can slow or stop the condition, especially when given early.
Care also includes physiotherapy, help with breathing and feeding, and equipment to support movement.
Common signs
- Floppy or weak muscles
- Delayed movement milestones in babies
- Difficulty breathing or coughing
- Problems swallowing or feeding
- A curved spine
How it is usually diagnosed
- A genetic blood test
- Newborn screening in some countries
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Genetic test results
- Neuromuscular clinic letters
- Treatment and infusion records
- Breathing and therapy reports
Questions to ask your doctor
- Which treatment is suitable for my child?
- How will breathing and feeding be supported?
- Should other family members be tested?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- Breathing difficulties, a chest infection with fever, or problems swallowing: call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.