A case published by the New England Journal of Medicine highlights how a 4-year-old boy’s unusual way of getting up from the floor led to a diagnosis of Duchenne muscular dystrophy.
The *New England Journal of Medicine* posted the case of a young boy who had been experiencing fatigue and falling frequently. What caught clinicians’ attention was what happened after he fell — rather than pushing up through his legs, he used his hands to walk himself up his own body to standing. That distinctive movement pattern is known as Gowers’ sign, and it points to weakness in the muscles of the hips and thighs.
Blood tests also showed raised aminotransferase (liver enzyme) levels, which can be an early indicator of muscle damage rather than a liver problem in children with this condition.
Duchenne muscular dystrophy (DMD) is a genetic condition that causes progressive muscle weakening, most commonly affecting boys. The NHS says it is caused by a fault in the gene that produces dystrophin, a protein muscles need to work properly. Symptoms typically appear between ages 2 and 5.
The signs can be easy to miss at first.
Parents or carers who notice a young child falling more than expected, struggling to run or climb stairs, walking on their toes, or getting up from the floor in that characteristic hands-on-legs way should speak to their GP. A blood test measuring creatine kinase (an enzyme released when muscle is damaged) is usually the first step in investigation, according to the NHS.
Treatment cannot cure DMD, but the NHS says glucocorticoid (steroid) medicines — referenced in the journal’s post — can slow the progression of muscle weakness and are a standard part of management.
Where to Get Help
- Speak to your GP if you’re concerned about a child’s muscle strength, walking pattern, or unexplained fatigue
- The Muscular Dystrophy UK helpline can be reached on 0800 652 6352
- For urgent concerns, contact NHS 111 online or by phone
- In an emergency, call 999
Source: @NEJM
Duchenne Muscular Dystrophy: What the Gowers' Sign Means and When to Seek Help Quiz
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