Duchenne Muscular Dystrophy: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Duchenne Muscular Dystrophy (DMD) is a rare inherited neuromuscular disorder caused by mutations in the DMD gene, resulting in the absence of dystrophin, a protein essential for healthy muscle function. The condition primarily affects boys and causes progressive muscle weakness, difficulty walking, and loss of mobility over time. As the disease advances, it may also affect the heart and breathing muscles. Early diagnosis and comprehensive treatment are important to slow disease progression, manage complications, and improve quality of life.

What are the Symptoms of Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a disorder that affects the skeletal muscles in the body. The early symptoms are:

Delayed walking
Difficulty while jogging, climbing stairs and getting up.
Shortness of breath
Pseudohypertrophy of calf muscles.
The poor balance increases the likelihood of falling.
Walking on the toes is a result of tightness in the tendons of the leg and foot.
Muscle degeneration in Duchenne is not associated with discomfort, although muscle rigidity and cramping can be painful.
As a result of muscle weakness in the legs, children with Duchenne commonly use the Gower manoeuvre to stand from the floor.
Individuals may push off the floor with their hands and then 'walk' their hands up their legs.

What are the Causes of Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by a defective gene called dystrophin, which is responsible for producing a muscular protein. Individuals with DMD have a faulty gene that normally produces dystrophin, a protein crucial for muscle strength and protection against damage. This condition primarily affects boys, as they are more susceptible to inheriting the defective gene compared to girls.

X-linked Recessive Inheritance: The defective gene is located on the X chromosome, which explains why males are more commonly affected.
Mutation in the DMD Gene: Changes or deletions in the DMD gene prevent the production of functional dystrophin protein.
Carrier Mothers: Females can be carriers of the mutated gene and may pass it on to their children, often without showing symptoms.
Spontaneous Mutations: In some cases, DMD occurs due to new (de novo) mutations without any family history.
Lack of Dystrophin Protein: The absence of dystrophin leads to progressive muscle damage and over time.
Progressive Muscle Degeneration: Muscle fibers are easily damaged and replaced by fat and connective tissue.
Early Onset: The genetic defect affects muscle development from early childhood, usually showing symptoms before age 5.

When to See a Doctor for Duchenne Muscular Dystrophy?

Children with delayed walking, frequent falls, difficulty climbing stairs, or progressive muscle weakness should be evaluated promptly by a Neurologist or Neuromuscular Specialist.

You should see a doctor if your child has:

Delayed motor milestones
Difficulty standing up from the floor or climbing stairs
Frequent falls or progressive muscle weakness

Seek immediate medical attention if your child:

Develops severe breathing difficulty
Experiences chest pain, fainting, or signs of heart failure
Has sudden weakness, difficulty swallowing, or symptoms of a respiratory infection that worsen breathing

These symptoms may indicate serious cardiac or respiratory complications requiring urgent medical care.

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How is Duchenne Muscular Dystrophy Diagnosed?

Regular medical examinations may detect symptoms of muscular dystrophy.

Blood Testing: These include genetic blood tests, showing the gene mutation causing lack of dystrophin in around two-thirds of males with DMD.
Muscle Biopsy: A small sample of muscle tissue examined under a microscope can determine the diagnosis in children with clinical evidence of DMD.
Electromyogram (EMG): This test determines whether the child's muscular weakness is due to muscle tissue degeneration or than nerve injury.
Electrocardiogram (ECG or EKG): A genetics counselor examines the risk factor of this neuromuscular disorder within each family and advises genetic testing for various family members, including the affected kid, and perhaps carrier testing for the mother.

What are the Treatment for Duchenne Muscular Dystrophy?

DMD treatment aims to minimize symptoms and keep the kid healthy. While there is currently no cure for this disorder, experts are working worldwide on medicines that might significantly improve neuromuscular disorders.

Physiotherapy and Occupational Therapy: The kid will need help from a skilled physiotherapist. Physiotherapy is essential for keeping the kid active, healthy, and comfortable. The physiotherapist may design a regimen that includes active and passive stretching, aided stretching, and muscular elongation exercises. Splinting, orthotics and standing devices can also assist the child in being active for extended periods.
Regular Medical Care: A neurologist, orthopaedics or paediatrician will examine the child's strength and general physical well-being, check for scoliosis, and monitor the child's breathing and heart function. Surgery can assist with back and foot issues.
Medications: Many drugs have been used to treat DMD. Corticosteroids, such as prednisolone, may slow down the progression in children with DMD. The neurologist may prescribe steroids proven only to slow down the progression. Antisense oligonucleotides (ASO) are newer drugs approved for DMD.

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What are the Risk Factors of Duchenne Muscular Dystrophy?

DMD being in the family history is a risk factor. A person can carry the condition silently, meaning that a family member might have a copy of the faulty gene yet not get DMD. The gene can sometimes be passed down for generations before affecting a kid.

Another significant risk factor for Duchenne Muscular Dystrophy (DMD) is being male, as the condition is linked to mutations in the dystrophin gene located on the X chromosome. Since males have only one X chromosome, a single defective gene copy can cause DMD. In rare cases, new mutations can occur even without a family history, leading to the condition. Regular genetic testing in families with a history of DMD can help identify silent carriers and assess the risk for future generations.

Complications of Duchenne Muscular Dystrophy

Some Common Complications of DMD includes:

Cardiac:

Cardiomyopathy
Arrhythmias

Orthopaedic problems:

Osteopenia
Joint contractures
Scoliosis

Pulmonary:

Pulmonary infections
Respiratory insufficiency with decreased total lung capacity, decreased residual lung volume

Steroid treatment problems:

Behavioral changes
Cushingoid appearance
Bone demineralization
Hirsutism
Growth suppression
Weight gain

Miscellaneous

Aspartate aminotransferase (AST) elevation
Mental retardation
Renal stones secondary to bone demineralization

Can Duchenne Muscular Dystrophy Be Prevented?

DMD cannot be prevented since it is inherited from the mother. Geneticists are investigating technologies that may be able to prevent the defect from being passed down, but no viable remedy has been developed. Before conception, genetic testing can establish whether a couple is at a higher risk of having children with DMD.

Prospective parents with a family history of DMD can consult specialists to understand the inheritance pattern and explore options like in-vitro fertilization with genetic screening to reduce the likelihood of passing on the condition. Additionally, increased awareness and advancements in genetic research may offer better insights into preventing DMD in the future, though current preventive measures are limited.

What is the Recovery Process for Duchenne Muscular Dystrophy?

DMD is a progressive condition, but proper care can slow progression and improve daily functioning.

Regular physiotherapy to maintain muscle strength.
Ongoing monitoring of heart and lung health.
Nutritional support and lifestyle adjustments.
Use of assistive devices for mobility.
Long-term multidisciplinary care and support.

Frequently Asked Questions

1. How is Duchenne Muscular Dystrophy diagnosed?

Diagnosis typically involves a physical examination, blood tests for creatine kinase (CK), genetic testing, muscle biopsy in selected cases, and heart and lung function assessments.

2. Is Duchenne Muscular Dystrophy inherited?

Yes, DMD is inherited in an X-linked recessive pattern. It mainly affects boys, while females are usually carriers and may have mild symptoms.

3. How is Duchenne Muscular Dystrophy treated?

Treatment may include corticosteroids, physical therapy, respiratory support, heart medications, orthopedic care, and newer mutation-specific therapies for eligible patients.

4. Can Duchenne Muscular Dystrophy affect the heart and lungs?

Yes, DMD can weaken the heart and breathing muscles, leading to cardiomyopathy and respiratory complications that require regular monitoring and treatment.

5. Can Duchenne Muscular Dystrophy be cured?

There is currently no cure for DMD, but advances in medications, gene-targeted therapies, and supportive care have improved quality of life and life expectancy.