Duchenne muscular dystrophy (DMD) is often diagnosed late, with a mean age of diagnosis around 4.3 years and a delay of 1.6 years between initial parental concern and diagnosis.
A clinical update published in the British Medical Journal aims to speed up diagnosis.
It sets out a mnemonic (MUSCLE) for warning signs:
- Motor milestones delayed in boys - not walking independently by 18 months, jumping by 2.5 years, or running by age 3.
- Unusual gait - tiptoe walking, frequent falls. Struggling to get up from the floor, or climb stairs.
- Speech or language delay - no words spoken in the first 18 months, unable to speak sentences by age 3. Learning difficulties, behavioural problems.
More than three symptoms over ≥2 categories, warrants further rapid evaluations;
- Creatinine kinase. If raised, refer to a neuromuscular specialist
- Leads to;
- Early diagnosis of DMD.
Red flags are calf hypertrophy, muscle pain or cramps, or episodes of myoglobinuria. Other symptoms include unexplained elevated liver enzymes, breathlessness, palpitations, arrhythmias, morning headaches, repeated chest infections, or weight loss.
The authors say use of the MUSCLE mnemonic should trigger physicians to refer the patient for specialist review, leading to better outcomes for DMD patients.