A five-year-old boy tries to stand after playing with a football. Instead of getting up easily, he rolls onto his stomach, pushes himself onto his knees and places both hands on his legs. He then “walks” his hands up his shins and thighs until he is standing.
His family may think he is clumsy, lazy or poorly nourished. But this unusual movement can be an important medical warning.
Doctors call it Gower’s sign. It happens when the muscles around the hips and thighs are too weak to lift the body without help from the arms. Gower’s sign is not a diagnosis by itself, but it should never be ignored. It can appear in several muscle disorders, including Duchenne muscular dystrophy.
Duchenne muscular dystrophy, commonly called DMD, is a genetic condition that causes muscles to become weaker over time. It mainly affects boys and is estimated to occur in about one out of every 3,500 to 6,000 male births.
The early signs can be easy to miss. A child may start walking late, fall frequently, struggle to run or jump, walk on his toes or develop a waddling walk. He may find stairs unusually difficult or become tired during ordinary play. Some children also experience delays in speech, learning or general development.
Another confusing sign is unusually large calves. Parents may believe the child is becoming strong. In DMD, however, the calves can appear larger because healthy muscle is gradually replaced by fat and scar-like tissue. The legs may look powerful while actually becoming weaker.
DMD is caused by a harmful change in a gene that contains the instructions for making dystrophin. This protein works like a shock absorber, helping muscle cells remain stable when muscles contract and relax.
A child with Duchenne produces little or no working dystrophin. Without this protection, ordinary movement damages the muscle-cell membrane. The body tries to repair the damage, but over time, muscle fibres are destroyed faster than they can be replaced.
The weakness usually begins around the hips, thighs and shoulders. As the condition progresses, it can also affect the heart and the muscles needed for breathing. The symptoms and inheritance of the condition are explained in detail by NCBI’s GeneReviews.
DMD is usually inherited through the X chromosome. Boys have one X chromosome from their mother and one Y chromosome from their father. If a boy’s X chromosome carries a disease-causing DMD variant, he will usually develop the condition.
A woman carrying the variant has a 50 percent chance of passing it to each child. A son who inherits it will generally develop DMD. A daughter who inherits it will usually be a carrier, although some female carriers can develop muscle weakness or heart problems.
Duchenne can also appear in a family with no known history of the condition because some genetic changes occur for the first time in a child. Parents—and especially mothers—must never be blamed. No one chooses the genes they carry or pass on.
This fact matters when discussing cousin marriage in Pakistan. According to the Pakistan Demographic and Health Survey 2017–18, nearly two-thirds of surveyed ever-married women were married to a relative, most commonly a first cousin.
Marriage between biological relatives can increase the risk of certain recessive genetic disorders. Duchenne, however, is an X-linked condition. Cousin marriage does not directly cause DMD, and it would be medically incorrect to blame every case on this tradition.
An unidentified DMD variant can still pass through the maternal side of a family for generations. Several brothers, maternal uncles or male cousins may therefore be affected. Genetic testing and counselling can help families understand the pattern without shame or blame.
One of the greatest dangers is the delay in reaching a diagnosis.
A child may spend years being treated for poor nutrition, vitamin deficiency or general weakness. Families may visit several clinics or try traditional and spiritual remedies because these options are familiar, affordable or nearby. During this time, the child may continue losing strength without receiving heart checks, breathing assessments, physiotherapy or genetic counselling.
A relatively simple blood test for creatine kinase, or CK, can provide an early clue. CK is an enzyme that enters the blood when muscles are damaged. Its level is often extremely high in children with Duchenne.
A high CK result does not confirm DMD by itself, but it should lead to an urgent assessment by a pediatric neurologist or neuromuscular specialist. Genetic testing is normally used to confirm the diagnosis and identify the exact mutation.
Pakistan has doctors and laboratories capable of diagnosing DMD, particularly in major cities. Access, however, remains uneven. Families living far from specialist hospitals may face travel expenses, testing fees and repeated consultation costs. For households already struggling financially, even obtaining a diagnosis may be difficult.
There is currently no cure for Duchenne, but “no cure” does not mean “no care.”
Corticosteroid medicines can help preserve strength and delay the loss of walking ability in many children. Physiotherapy and regular stretching can reduce stiffness and protect movement. Heart monitoring, breathing tests, vaccinations, nutritional care and support for bone health are also essential.
Wheelchairs, braces and other mobility aids should not be seen as symbols of defeat. They can prevent falls, reduce exhaustion and help children continue attending school, visiting friends and participating in family life.
New treatments have created hope, but they must be discussed honestly. Exon-skipping medicines work only for certain genetic mutations, and their benefits vary. Gene therapy attempts to help the body produce a smaller version of dystrophin, but it is not a cure and is not suitable for every patient.
These treatments can also carry serious risks. In November 2025, the US Food and Drug Administration added its strongest safety warning to the gene therapy Elevidys after reports of fatal liver injury. It also limited treatment to certain patients who are at least four years old, have a confirmed DMD mutation and can still walk. The FDA’s safety update shows why even promising treatments require careful selection and close monitoring.
Cost creates another painful divide. Advanced DMD medicines can be extraordinarily expensive and may not be available in Pakistan. For many families, even regular physiotherapy, heart tests and breathing equipment are difficult to afford.
Pakistan does not have to wait for an affordable cure before improving lives. Parents, teachers, community health workers and general doctors can learn to recognize repeated falls, toe walking, large calves, difficulty climbing stairs and Gower’s sign.
A child showing these signs should receive a medical assessment instead of being labelled lazy or careless.
Earlier diagnosis cannot remove the genetic condition, but it can change the child’s future. His heart and lungs can be monitored sooner. His joints can be protected. His family can receive accurate guidance. His school can prepare for his needs, and valuable years of independence may be preserved.
Duchenne is caused by a genetic change, but much of the suffering created by delay, stigma and unequal access is preventable. Science has begun to provide answers. The real test is whether those answers can reach every child who needs them.
