Muscular dystrophy is a group of genetic disorders that cause progressive muscle weakness and degeneration. When a child is diagnosed with muscular dystrophy, it can be overwhelming for parents and caregivers.

In this comprehensive guide, we will discuss muscular dystrophy in children in detail.

Causes of Muscular Dystrophy in Children

Muscular dystrophy is a genetic disorder, meaning it is caused by mutations in specific genes that play a crucial role in muscle function. These genetic changes prevent the body from producing the proteins needed to build and maintain healthy muscles, leading to progressive weakness and muscle degeneration.

Genetic Mutations

The primary cause of muscular dystrophy in children is a mutation in the genes responsible for muscle proteins. The most well-known gene associated with muscular dystrophy is the dystrophin gene, which is defective in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Without dystrophin, muscle cells become fragile and break down over time.

Inherited from Parents

Muscular dystrophy can be inherited in different ways. X-linked recessive Inheritance affects mostly boys and is passed down from carrier mothers. Autosomal Recessive Inheritance requires both parents to be carriers for the child to develop the disease. Autosomal Dominant Inheritance only needs one parent to pass the faulty gene for the child to be affected.

Spontaneous Genetic Mutations (New Mutations)

Muscular dystrophy can occur in children due to random gene mutations, called de novo mutations, even without a family history. These mutations can be passed on to future generations if the affected individual has children.

Lack of Dystrophin and Other Essential Proteins

In Duchenne and Becker muscular dystrophy, the lack or deficiency of dystrophin leads to progressive muscle damage. In other types of muscular dystrophy, different muscle proteins such as laminin, sarcoglycans, and collagen may be missing or defective, affecting muscle structure and function.

Environmental and Lifestyle Factors

Muscular dystrophy is mostly caused by genetics, but factors such as lack of vitamins, exposure to toxins, and other health conditions can make symptoms worse.

Can Muscular Dystrophy Be Prevented?

Since muscular dystrophy is a genetic disorder, it cannot be fully prevented. However, families with a history of muscular dystrophy can take some steps:

• Genetic counselling and testing before pregnancy can help identify the risk of passing the disorder to children.
• Prenatal testing can detect mutations in the dystrophin gene early in pregnancy.
• Carrier screening can help determine if a parent carries a gene mutation.

Early Signs of Muscular Dystrophy in Babies and Toddlers

Muscular dystrophy often starts with subtle symptoms in infancy or early childhood. Recognising the signs of muscular dystrophy in babies enables early diagnosis and intervention.

Signs of Muscular Dystrophy in a 1-Year-Old

A 1-year-old baby with muscular dystrophy may exhibit the following signs:

• Delayed milestones – Not rolling over, sitting up, or crawling as expected.
• Poor muscle tone (hypotonia) – Floppy or weak muscles.
• Difficulty holding up the head – Weak neck muscles.
• Weak sucking or feeding difficulties – Some babies struggle with breastfeeding or bottle-feeding.
• Lack of movement in the limbs – Decreased activity compared to other babies.

Signs of Muscular Dystrophy in a 2-Year-Old

By age 2, muscular dystrophy symptoms become more noticeable. Parents might observe:

• Delayed walking – Many children with muscular dystrophy struggle to walk or may not walk at all.
• Frequent falls – Clumsiness or tripping over often.
• Difficulty standing up from a sitting position – A classic sign known as Gower’s sign, where the child uses their hands to “climb up” their body to stand.
• Large calf muscles (pseudohypertrophy) – The muscles appear bulky due to fat accumulation, but they are weak.
• Weakness in leg and hip muscles – Struggles with running, jumping, or climbing stairs.

Symptoms of Muscular Dystrophy in Children

As muscular dystrophy progresses, the symptoms become more pronounced. Common muscular dystrophy in children symptoms include:

• Muscle Weakness – Begins in the legs and hips, then progresses to arms and torso.
• Difficulty Climbing Stairs – Leg muscles weaken, making stairs challenging.
• Frequent Falling – Poor coordination and weak leg muscles lead to more falls.
• Fatigue and Tiredness – Muscles tire easily with activity.
• Toe-Walking or Walking on the Balls of the Feet – Common compensatory movement.
• Difficulty Raising Arms – Shoulder and arm muscles weaken.
• Poor Posture and Scoliosis – Spine may curve due to weak back muscles.
• Joint Stiffness (Contractures) – Tightening of muscles limits movement.
• Respiratory Problems – Weak breathing muscles can cause shortness of breath.
• Speech and Swallowing Difficulties – Some forms affect facial and throat muscles.

Diagnosing Muscular Dystrophy in Children

Since the symptoms of muscular dystrophy can be subtle in infants and toddlers, doctors use a combination of clinical evaluation, genetic testing, and specialised medical tests to confirm the condition.

1. Medical History and Physical Examination

A doctor will first assess family history, developmental history, symptoms progression, and muscle strength and tone when diagnosing muscular dystrophy.

2. Blood Tests

Creatine kinase is an enzyme that is released when muscle cells break down. Elevated levels of creatine kinase in the blood suggest muscle damage, which is a common indicator of Duchenne muscular dystrophy and Becker muscular dystrophy.

Genetic testing is used to identify mutations in genes that are responsible for muscular dystrophy. This testing helps to confirm the specific type of muscular dystrophy, including Duchenne muscular dystrophy, Becker muscular dystrophy and other forms. Additionally, genetic testing can be beneficial for family planning and carrier screening purposes.

3. Specialised Diagnostic Tests

Electromyography and Nerve Conduction Studies measure muscle and nerve function by recording electrical activity. Muscle Biopsy examines muscle tissue for abnormalities by taking a small sample. MRI and ultrasound are imaging tests that identify muscle degeneration and fat replacement to detect muscle abnormalities.

Treatment Options for Muscular Dystrophy in Children

There is currently no cure for muscular dystrophy, but various treatments can help manage symptoms and improve quality of life.

• Medications: Corticosteroids such as Prednisone and Deflazacort are utilised to slow down muscle degeneration in individuals with muscular dystrophy. Exon-skipping drugs such as Eteplirsen and Golodirsen are specifically designed for the treatment of Duchenne Muscular Dystrophy. Additionally, ongoing research is being conducted in the field of gene therapy to develop innovative genetic treatments for this condition.
• Physical Therapy: This program assists in maintaining muscle strength and flexibility, preventing contractures and joint deformities, and promoting mobility through the use of braces or walkers.
• Occupational Therapy: Assists individuals with their daily activities and recommends adaptive tools to promote independence.
• Respiratory Support: Utilise breathing exercises and provide ventilator support as necessary.
• Surgery: Tendon release surgery is a procedure that can effectively address contractures, while spinal surgery is a treatment option for correcting scoliosis.
• Dietary Management: Consuming a diet high in protein is essential for supporting muscle health. Additionally, maintaining a healthy weight can help alleviate stress on weakened muscles.

Muscular Dystrophy Child Life Expectancy

The life expectancy of a child suffering from muscular dystrophy depends on the type of muscular dystrophy and how well the symptoms are managed.

• Duchenne Muscular Dystrophy – Life expectancy has improved with medical advancements; many live into their 20s or 30s.
• Becker Muscular Dystrophy – Typically live into their 40s or 50s.
• Congenital Muscular Dystrophy – Life expectancy varies; some forms are severe, while others allow a near-normal lifespan.
• Limb-Girdle Muscular Dystrophy – Life expectancy depends on severity; some live normal lifespans.
• Emery-Dreifuss Muscular Dystrophy – Can live into adulthood with proper cardiac care.

Physical Therapy and Exercise Recommendations for Children with Muscular Dystrophy

Physical therapy and gentle exercise are important for managing muscular dystrophy by maintaining mobility, reducing stiffness, and improving quality of life. Carefully planned exercises help slow progression and promote independence for individuals with the condition.

Stretching & Range of Motion (ROM) Exercises

Regular stretching helps prevent stiffness, improves flexibility, and maintains joint mobility. Recommended exercises include gentle leg and arm stretches, passive stretching assisted by a therapist or caregiver, and hamstring and calf stretches to reduce tightness in the legs.

Low-Impact Strengthening Exercises

To maintain muscle function without straining them, it is recommended to do seated leg lifts for hip and thigh strength, light resistance band exercises under therapist supervision, and aquatic therapy in a pool to support weak muscles while allowing movement.

Posture & Core Stability Exercises

Recommendations for preventing scoliosis and improving stability include sitting on an exercise ball to engage core muscles, using braces for supported standing to maintain good posture, and doing modified yoga poses in gentle seated or floor positions.

Balance & Coordination Activities

These activities help prevent falls and encourages safe walking by using exercises such as walking in water, using parallel bars for support, and playing seated coordination games like catching a softball.

Respiratory Exercises

To strengthen breathing muscles and prevent lung infections, recommended exercises include deep breathing techniques to expand lung capacity, blowing bubbles or balloons to improve breath control, and using incentive spirometry to help with lung function.

Caring for a Child with Muscular Dystrophy

Caring for a child with muscular dystrophy can be both challenging and rewarding. As a progressive condition, muscular dystrophy requires long-term medical, emotional, and practical support to ensure the child maintains mobility, independence, and a high quality of life. This guide covers essential aspects of caregiving, including treatment options, physical therapy, emotional well-being, and daily care strategies.