Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a rare genetic disease that progressively affects the skeletal muscles, the heart muscle, and the respiratory muscles, and it progresses steadily from childhood onward. Although there is no treatment that cures the disease, early diagnosis, multidisciplinary monitoring, and medical rehabilitation can help preserve muscle function and reduce complications. Below, we explain in detail what DMD is, how the diagnosis is established, what treatment options are available, and why periodic evaluation is essential for managing the condition.

What is Duchenne muscular dystrophy?

DMD is a genetic disease caused by mutations in the DMD gene, located on the X chromosome. This gene produces dystrophin, a protein that protects the muscle fiber during contraction. Without dystrophin, the muscle fiber gradually deteriorates and is replaced by fatty and fibrous tissue. The result is a progressive loss of muscle strength.

The disease affects almost exclusively boys. Girls can be carriers of the mutation and, in some cases, may develop cardiac involvement or mild muscle weakness. For this reason, cardiac monitoring of carriers is recommended.

Becker muscular dystrophy is a milder form, caused by mutations in the same gene, but ones that allow the production of a partially functional dystrophin. Onset is later, and progression is slower.

The genetic causes of the disease: what you need to know

Mutations in the DMD gene can be:

1. deletions (60–70% of cases);
2. duplications (5–10%);
3. point mutations (20–30%).

Transmission is recessive, X-linked:

1. boys who inherit the mutated gene develop the disease;
2. girls with a single mutated copy usually become carriers;
3. a carrier mother has a 50% risk of passing the mutation on to each child.

In about one third of cases, the mutation occurs spontaneously, with no family history. The absence of a family history does not rule out the diagnosis.

Precisely identifying the mutation grants access to specific gene-targeted therapies, such as exon-skipping treatments, which are available only for certain types of mutations. Genetic counseling helps you understand the risks for other family members and reproductive options.

What signs and symptoms does Duchenne muscular dystrophy cause?

Between 1 and 3 years of age

1. delayed acquisition of walking;
2. frequent falls;
3. difficulty climbing stairs;
4. toe-walking;
5. difficulty getting up from the floor.

Between 4 and 7 years of age

1. Gowers' sign (the child pushes on the thighs to stand up);
2. enlarged calves that appear muscular;
3. rapid fatigue when running;
4. difficulty jumping or climbing stairs;
5. sometimes speech delay.

After age 8

1. progressive decrease in strength;
2. joint contractures;
3. postural changes;
4. the need for walking support devices.

Blood tests frequently show very high creatine kinase (CK) values, sometimes 10–100 times above the normal limit. Elevated transaminases often initially lead to suspicion of a liver condition, even though the cause is muscular. If you notice such signs, schedule a pediatric neurological evaluation. Early intervention makes a difference in how the disease progresses.

How does the disease progress?

DMD progresses steadily, but the pace varies from one patient to another:

1. loss of walking ability usually occurs between ages 10 and 13. Corticosteroid treatment can delay this moment;
2. scoliosis and contractures become more frequent after the loss of walking ability and require orthopedic monitoring. In some situations, the doctor recommends surgical intervention;
3. cardiac involvement occurs in most patients and may include myocardial fibrosis and cardiomyopathy, which can progress to a dilated form. Periodic monitoring through echocardiography and cardiac MRI allows cardioprotective treatment to be started in time;
4. respiratory involvement results from the weakening of the respiratory muscles. Vital capacity progressively decreases and recurrent respiratory infections may occur.

About 30% of patients have learning difficulties or attention disorders. Neuropsychological evaluation and personalized educational support improve school adaptation.

How is the diagnosis of Duchenne muscular dystrophy established?

A correct diagnosis provides access to appropriate treatment and personalized monitoring.

Laboratory tests

1. very high CK;
2. elevated transaminases due to muscle damage.

Genetic testing

Confirmation is done by identifying the mutation in the DMD gene:

1. MLPA for deletions and duplications;
2. genetic sequencing for point mutations.

Genetic confirmation allows guidance toward specific therapies and genetic counseling for the family.

Additional investigations

1. EMG with a myogenic pattern;
2. muscle MRI to assess the degree of involvement;
3. cardiology evaluation (ECG, echocardiography, cardiac MRI);
4. spirometry for respiratory function.

A complete evaluation at a center experienced in pediatric neurology and medical rehabilitation, such as Centrokinetic, ensures proper coordination of all these investigations.

What does DMD treatment involve?

There is no curative treatment, but the management options currently available help preserve autonomy for longer. The approach must be personalized and may include:

Medication

Corticosteroid therapy:

1. preserves muscle strength for longer;
2. delays the loss of walking ability;
3. reduces the risk of scoliosis;
4. can delay the onset or progression of cardiac involvement.

The doctor closely monitors side effects: weight gain, osteoporosis, behavioral disorders.

Specific gene therapy applies only to certain mutations. Precise genetic testing thus becomes indispensable.

Cardioprotective treatment can be started before symptoms appear, depending on age and the results of cardiac evaluations. The doctor may recommend ACE inhibitors or angiotensin receptor blockers, and beta-blockers are introduced when there is an indication.

Physical therapy and medical rehabilitation

Rehabilitation begins immediately after diagnosis and continues for life. The program must be adapted to the stage of the disease and the individual's capacity.

A personalized plan includes:

1. daily stretching exercises;
2. light, controlled strength exercises;
3. avoiding intense or eccentric effort;
4. orthoses to prevent contractures;
5. hydrotherapy for safe mobility.

If you are a parent or a patient undergoing rehabilitation, choose to work with specialists in pediatric medical rehabilitation and physical therapy adapted to neuromuscular conditions. Early intervention can prevent certain complications that are difficult to manage later on.

Respiratory and cardiac management

Annual respiratory monitoring includes spirometry. If lung function declines, the doctor may recommend:

1. assisted cough techniques;
2. nocturnal non-invasive ventilation;
3. flu and pneumococcal vaccination;
4. respiratory physiotherapy.

Periodic cardiology evaluation detects structural changes early. Treatment started early slows the deterioration of cardiac function.

At what intervals should periodic evaluations be performed?

• Pediatric neurology: every 3–6 months.
• Medical rehabilitation: every 4–6 months.
• Cardiology: annually.
• Pulmonology: annually.
• Orthopedics: annually.
• Nutrition: every 6–12 months.
• Psychology: as needed.

Proper evaluation provides clear benefits:

1. early detection of complications;
2. adjustment of treatment;
3. maintaining mobility;
4. reducing the risk of late interventions.

Why is early intervention important?

The earlier the diagnosis is made, the better the chances of slowing progression. In the early stages, the muscle retains part of its functional capacity. Physical therapy, started promptly and applied correctly, preserves joint range of motion and reduces the occurrence of contractures.

Early intervention also means genetic counseling, early cardiac monitoring, and education for the family. All of these contribute to a more controlled course of the disease.

What is the prognosis?

In recent decades, life expectancy has increased thanks to coordinated management. Many patients reach young adulthood or even over 30–40 years of age, if they benefit from modern treatment and careful monitoring.

Quality of life depends on:

1. early diagnosis;
2. prompt initiation of treatment;
3. consistent rehabilitation;
4. cardiac and respiratory monitoring;
5. psychological support.

Each case progresses differently. That is why a personalized approach and collaboration between specialties are a priority.

Why choose evaluation at a specialized center like Centrokinetic?

DMD requires coordination between a neurologist, cardiologist, pulmonologist, orthopedist, and rehabilitation specialist. A team experienced in neuromuscular conditions can establish a coherent plan and adapt it continuously.

The benefits are clear:

1. individualized treatment plan;
2. integrated monitoring;
3. rapid adjustment of interventions;
4. support for the family.

Book an appointment now at Centrokinetic for a specialist consultation.

Frequently asked questions about Duchenne muscular dystrophy

At what age do the first signs appear?

Usually between 2 and 5 years of age. Parents notice difficulty walking, frequent falls, or motor delay. If you have doubts, request a neurological evaluation.

Can DMD be cured?

There is currently no curative treatment. Available therapies slow progression and improve quality of life. Research in gene therapy continues.

Why is genetic testing important?

Testing confirms the diagnosis, identifies the type of mutation, and establishes eligibility for specific therapies. In addition, it helps with family counseling.

Can female carriers have symptoms?

Yes. Some may develop cardiomyopathy or mild muscle weakness. Periodic cardiology monitoring is recommended.

Disclaimer: This material is intended for informational purposes only and does not replace a medical consultation, diagnosis, or the recommendations of a specialist. Duchenne muscular dystrophy requires multidisciplinary evaluation and monitoring, and investigations, medication, physical therapy, and other interventions must be established individually, based on the patient's age, disease stage, type of genetic mutation, and general condition.

Sources:

1. Muscular Dystrophy Association. "Duchenne Muscular Dystrophy (DMD)." reviewed May 2025, [www.mda.org/disease/duchenne-muscular-dystrophy](https://www.mda.org/disease/duchenne-muscular-dystrophy). Accessed Jul. 20, 2026.
2. Venugopal, Vijay, and Steven Pavlakis. "Duchenne Muscular Dystrophy." StatPearls, StatPearls Publishing, updated Jul. 10, 2023, [www.ncbi.nlm.nih.gov/books/NBK482346/](https://www.ncbi.nlm.nih.gov/books/NBK482346/). Accessed Jul. 20, 2026.
3. Cleveland Clinic. "Duchenne Muscular Dystrophy (DMD)." Cleveland Clinic, updated Jun. 27, 2025, my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd. Accessed Jul. 20, 2026.
4. Patterson, G., et al. "Duchenne Muscular Dystrophy: Current Treatment and Emerging Exon Skipping and Gene Therapy Approach." European Journal of Pharmacology, vol. 947, 2023, p. 175675. PubMed, doi:10.1016/j.ejphar.2023.175675. Accessed Jul. 20, 2026.