Muscle weakness rarely looks like "weakness" in a child. What parents more often hear is: "He's lazy," "she's clumsy," "he doesn't like to run," "he was the last to walk." That is why the diagnosis of inherited muscle diseases is delayed for years. In a registry study of Duchenne muscular dystrophy, the first signs appeared at an average age of 2.5 years, while the diagnosis was made at about age 5, a delay of more than two years. The 7 signs below are ones you can notice at home, on the playground and at preschool.
7 signs
- Gowers' sign. When getting up from the floor, the child first rolls onto the belly, then pushes the hands against the knees and thighs, "climbing up their own body." After age 3 this is the most important sign.
- Stairs. The child cannot climb stairs without holding the rail, alternating feet, and brings both feet together on each step.
- Gait. A "waddling" gait that sways from side to side, walking on tiptoes, a deeper curve in the lower back and a belly that sticks out.
- Running and jumping. The child clearly falls behind peers, cannot jump, falls often, and cannot catch themselves with their hands when falling.
- Calves. The calf muscles look unusually large and hard, a typical sign of Duchenne dystrophy (muscle tissue is replaced by fat and connective tissue).
- Fatigue and pain. Asking to be carried after a short walk, muscle pain after exercise, and sometimes dark-colored urine.
- Floppiness in a baby. When you pick the baby up, the body seems to "slip through," head control comes late, sucking is weak, movement is limited, and the legs stay in a "frog" position.
What to do
First step: a CK test. Creatine kinase is a simple blood marker of muscle damage; in Duchenne dystrophy it is many times above normal. According to international recommendations, CK should be checked in a boy with Gowers' sign, late walking or unexplained speech and motor delay, and this can bring the diagnosis forward by years. If CK is normal, the search turns to nerve-related causes of weakness (SMA, neuropathy) and other causes.
Second step: a neurological exam: the distribution of weakness, reflexes, muscle bulk, tongue twitching, eyelids. If needed, EMG/nerve conduction studies and genetic testing follow.
About walking on tiptoes
Walking on tiptoes is not a disease in itself: in a population study of 5-year-olds, toe walking was recorded in about 5% of children, and in more than half it went away on its own. But if toe walking comes with any of the signs above, especially Gowers' sign, large calves or increased muscle tone, muscle and nerve diseases should be ruled out.
When to hurry
If weakness is increasing rapidly over days, climbing up from the legs, there is difficulty swallowing or breathing, or a baby suddenly becomes limp, get an urgent exam (103). More detail: muscle diseases and neuromuscular disorders.
This article is for general information and does not replace an exam.
Scientific sources
The medical information on this page is based on the following peer-reviewed publications (PubMed).
- Ciafaloni E və b. (2009). Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) J Pediatr. PMID 19394035
- Birnkrant DJ və b. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management Lancet Neurol. PMID 29395989
- Engström P, Tedroff K (2012). The prevalence and course of idiopathic toe-walking in 5-year-old children Pediatrics. PMID 22826572
Medically reviewed by: Dr. Aynura IbrahimovaLast updated:
The information on this page is for education only and does not replace an examination by a doctor. If you are worried about your child, book an appointment. In an emergency, call 103.