Duchenne muscular dystrophy in children stages symptoms and treatment methods

Duchenne muscular dystrophy (DMD) in children is one of the rare genetic disorders that affects muscles progressively, with symptoms usually appearing at an early age. The condition often starts with mild muscle weakness, but over time it can impact movement, breathing, and sometimes even the heart. Early diagnosis is very important, as it allows treatment to begin as soon as possible—whether through medication or physical therapy—which can help improve the child’s quality of life.In this Dalily Medical article, we’ll explore the causes of Duchenne muscular dystrophy, its stages, symptoms, available treatment options, and practical daily tips for living with the condition, so that parents can better understand it and provide full support for their children.

1️⃣ What is Duchenne Muscular Dystrophy (DMD) in children?

Duchenne muscular dystrophy (DMD) is a rare genetic disorder that affects muscles progressively. Most children with DMD are boys, and symptoms usually begin before the age of 6.

2️⃣ Causes of Duchenne Muscular Dystrophy

Gene mutation: The condition is caused by a mutation in the dystrophin gene, which is responsible for producing a key muscle protein.
Protein deficiency: When the body does not produce enough dystrophin, muscles gradually weaken and lose their strength.

3️⃣ Symptoms of Duchenne Muscular Dystrophy in children

Difficulty walking or running, and problems climbing stairs.
Progressive muscle weakness, especially in the legs and hips.
Trouble standing up from the floor without assistance.
Breathing or heart problems may develop as the disease progresses.

4️⃣ Is Duchenne Muscular Dystrophy hereditary?

Yes. DMD is a hereditary disorder, most often linked to the X chromosome.

Boys are more likely to develop the disease.
Girls are usually carriers of the gene, but often do not show obvious symptoms.

5️⃣ How is Duchenne Muscular Dystrophy diagnosed?

Clinical examination: To observe muscle weakness and movement difficulties.
Blood tests: Checking creatine kinase (CK) enzyme levels to measure muscle damage.
Genetic testing: To confirm the dystrophin gene mutation.
Heart and lung tests: To assess organ function affected by the disease.

6️⃣ Is there a cure for Duchenne Muscular Dystrophy?

Unfortunately, there is no complete cure yet.
However, treatment with medication, physical therapy, and support for breathing and heart function can:

Improve the child’s quality of life.
Delay muscle deterioration and loss of body functions.

7️⃣ How to manage the disease daily?

Gentle exercises under medical supervision to strengthen muscles.
A healthy diet to support muscles and bones.
Mobility and breathing aids when needed.
Emotional support for the child and family, and encouraging the child to take part in age-appropriate activities.

8️⃣ Does Duchenne Muscular Dystrophy affect intelligence?

In most cases, no. Most children with DMD have normal intelligence.
However, muscle weakness and breathing difficulties may affect daily activity and learning, so early support is very important.

Stages of Duchenne Muscular Dystrophy in children

1️⃣ Early stage (ages 2–6)

Initial muscle weakness, especially in the hips and thighs.
Difficulty walking, climbing stairs, or standing up from sitting.
Waddling gait (Gower’s sign) when trying to stand.
Sometimes delayed speech or fine motor skills.

2️⃣ Middle stage (ages 6–10)

Progressive muscle weakness spreads to arms and back.
Difficulty with physical activities such as running or jumping.
Stiffness and painful muscle contractures.
Needing help to climb stairs or rise from the floor.

3️⃣ Advanced stage (ages 10–12 and beyond)

Gradual loss of walking ability → often requiring a wheelchair.
Weakness in breathing and heart muscles becomes noticeable.
Sleep and breathing difficulties at night due to chest muscle weakness.
Needing assistance with daily activities.

4️⃣ Final stage (teen years – adulthood)

Severe weakness of breathing and heart muscles → requiring breathing aids such as CPAP or BiPAP.
Serious heart problems that may cause complications.
Full dependence on others for movement and daily care.

Causes of Duchenne Muscular Dystrophy (DMD) in children

1️⃣ Genetic mutation
The main cause is a mutation in the dystrophin gene, which produces the dystrophin protein.
This protein protects muscles and keeps them strong. Its deficiency leads to gradual muscle damage and weakness.

2️⃣ X-linked inheritance
The disease is inherited in an X-linked recessive pattern.

Boys are more likely to be affected since they have only one X chromosome (XY).
Girls are usually carriers, though rarely show symptoms.

3️⃣ New mutation
Sometimes DMD appears in a child even without family history, due to a new mutation in the dystrophin gene.

4️⃣ Additional risk factors
A family history of Duchenne muscular dystrophy increases the chance of having an affected child.
The disease usually appears in boys between ages 2 and 5, with progressive muscle weakness.

Symptoms of Duchenne Muscular Dystrophy (DMD) in children

1️⃣ Progressive muscle weakness

First signs often appear in the hips and thigh muscles.
Difficulty walking, running, and jumping.
Child tires quickly during play or daily activities.

2️⃣ Difficulty standing and walking

Children may use Gower’s sign to stand, climbing up their knees with their hands due to weak thigh muscles.
Trouble climbing stairs or carrying heavy objects.

3️⃣ Delayed motor development

Delay in sitting, crawling, and walking compared to peers.
Sometimes gradual weakness begins after the age of 2–3 years.

4️⃣ Weakness in other muscles

As the disease progresses, the shoulder, arm, and back muscles gradually weaken.
This affects the ability to carry objects or lift the arms.

5️⃣ Foot and ankle problems

Foot drop due to weak leg muscles.
Sometimes muscle and joint stiffness or spasms appear.

6️⃣ Heart and respiratory involvement

As the condition advances, the heart muscle may be affected, leading to arrhythmias or reduced pumping ability.
Weak respiratory muscles cause breathing and sleeping difficulties.

7️⃣ Abnormal muscle growth

The child may appear to have enlarged calves due to fat and tissue build-up, but the muscles themselves are weak.
This sign is very common in DMD.

Types of Duchenne Muscular Dystrophy in children

1️⃣ Classic Duchenne Muscular Dystrophy (DMD)

The most common form.
Usually begins between ages 2 and 4.
Symptoms: weakness in hip and thigh muscles, walking difficulties, use of Gower’s sign to stand, and delayed muscle development.
Over time, weakness spreads to the arms, shoulders, back, and heart.

2️⃣ Becker Muscular Dystrophy (BMD)

A milder and slower-progressing form compared to classic DMD.
Often appears in late childhood or adolescence.
The child remains able to walk for a longer time before needing a wheelchair.
The heart may be affected later, while respiratory muscles deteriorate more slowly.

3️⃣ Other rare types

Caused by different genetic mutations that lead to similar symptoms.
Disease progression varies depending on the mutation, and severity may differ from child to child.

Complications of Duchenne Muscular Dystrophy in children

1️⃣ Muscle effects

Gradual weakness starting in the hips and thighs, spreading to arms and back.
Difficulty walking, climbing stairs, or standing without support.
Painful stiffness and muscle contractures in some cases.
Progressive loss of mobility → eventually needing a wheelchair.

2️⃣ Heart effects

Weakening of the heart muscle (cardiomyopathy).
Irregular heart rhythms.
May develop into partial or complete heart failure in advanced stages.

3️⃣ Respiratory effects

Weak breathing muscles → difficulty breathing, especially during sleep or exertion.
Increased risk of respiratory infections due to reduced ability to clear mucus.
In advanced stages: may require breathing aids such as CPAP or BiPAP.

4️⃣ Growth and daily life effects

Delayed growth and difficulty gaining physical strength.
Trouble performing daily activities such as walking or playing.
Persistent fatigue affecting normal activity.

5️⃣ Psychological and social effects

Feelings of frustration due to being unable to play like peers.
Difficulties in school or social participation.
Need for psychological and family support to help the child adapt.

Risks of Duchenne Muscular Dystrophy in children

1️⃣ Muscle-related risks

Progressive weakness in body muscles, especially hips, thighs, and arms.
Difficulty walking, sitting, standing, and climbing stairs.
Painful stiffness and muscle contractures.
Higher risk of injuries and fractures during play or daily activities.

2️⃣ Heart-related risks

Gradual weakening of the heart muscle, reducing blood pumping ability.
Heart rhythm disturbances.
In advanced stages, may progress to partial or complete heart failure.

3️⃣ Respiratory risks

Weak respiratory muscles cause difficulty breathing during sleep or physical effort.
Higher risk of respiratory infections due to poor clearance of mucus.
In advanced cases, children may require supportive devices such as CPAP or BiPAP.

4️⃣ Growth and daily life risks

Delayed growth or reduced fitness compared to peers.
Difficulty engaging in normal daily activities or games.
Increasing dependence on others for movement and mobility.

5️⃣ Additional risks

Psychological and social impact due to weak muscles or body shape differences.
Challenges at school or in physical activities without extra support.
Persistent fatigue that affects learning and daily activity.

Diagnosis of Duchenne Muscular Dystrophy in children

Diagnosis must be accurate because symptoms can resemble other muscular or neurological disorders. Main steps include:

1️⃣ Clinical examination and medical history

Observing muscle weakness, especially in the hips, thighs, and shoulders.
Difficulty walking or climbing stairs, and the child often uses Gower’s sign to stand.
Reviewing family history for similar cases.

2️⃣ Blood tests

Creatine kinase (CK) test: often elevated due to muscle damage.
Genetic testing: to detect the dystrophin gene mutation.

3️⃣ DNA test

Analyzing the DMD gene to confirm diagnosis and identify the type of mutation.
Important for assessing sibling risk and family planning.

4️⃣ Imaging and muscle studies

MRI: shows the extent of muscle damage.
Muscle biopsy: in some cases, to confirm dystrophin deficiency.

5️⃣ Heart and lung evaluation

Echocardiogram and ECG: to monitor heart function.
Pulmonary function tests: to measure lung capacity and respiratory muscle strength, especially in advanced stages.

Medication treatment for Duchenne Muscular Dystrophy

Drug therapy aims to slow disease progression, reduce muscle weakness, and protect the heart and lungs.

1️⃣ Corticosteroids

Common drugs: Prednisone and Deflazacort.
Goal: increase muscle strength and delay loss of walking ability.
Administration: usually taken orally, daily or intermittently, as prescribed.

Benefits:

Slow down progressive muscle weakness.
Reduce inflammation within muscles.
Improve certain daily functions.

Side effects: weight gain, osteoporosis, high blood pressure, mood swings → regular medical follow-up is essential.

2️⃣ Supportive drugs for muscles and heart

ACE inhibitors / ARBs: protect the heart when early weakness appears.
Beta-blockers: to prevent heart rhythm disturbances in some cases.
Supplements: calcium and vitamins to support bone and muscle health.

3️⃣ Emerging and experimental treatments

Gene therapy: aims to correct the genetic mutation or replace missing dystrophin.
Exon skipping techniques: help some children produce a shorter version of dystrophin protein, which may improve muscle strength.

Surgical treatment for Duchenne Muscular Dystrophy

Surgery is not a cure, but it helps reduce complications and improve mobility and quality of life.

1️⃣ Scoliosis surgery

Some children develop spinal curvature due to weak muscles.
Goal: stabilize the spine, improve sitting and breathing, and reduce pain.
Usually performed after loss of walking ability.

2️⃣ Contracture release surgery

Joints may become stiff and lose flexibility over time.
Goal: improve mobility, ease sitting or walking, and reduce pain.
May involve the knee, ankle, or hip depending on the case.

3️⃣ Breathing support interventions

With weakened respiratory muscles, children may need nighttime or permanent breathing aids.
In some cases, minor surgical procedures are done to improve the airway.

Herbal and natural support for Duchenne Muscular Dystrophy

Although modern medicine is the mainstay of treatment, some herbs and natural supplements may help ease symptoms and support overall health alongside medical care.