Muscular dystrophy in children is a collective name for over 30 different genetic neuromuscular disorders. Each disorder causes muscle weakness and wasting (atrophy). The progressive muscle weakness leads to difficulty in movement and loss of control (1). Duchenne muscular dystrophy (DMD) is the most common disorder affecting young boys from three to six years (2). While there is no cure, different therapies can help lessen the severity and prevent complications. Read about muscular dystrophy in children, including its types, causes, symptoms, and treatment.

What Causes Muscular Dystrophy In Children?

Muscular dystrophy could result from a mutated gene that affects proteins in the muscles. It further prevents the proteins from working accurately and efficiently. Different dystrophies occur from various mutations. A child can inherit mutated genes from the parents, but in some cases, the mutation can occur spontaneously and pass to future generations (3).

What Are The Types And Symptoms Of Muscular Dystrophy In Children?

Several types of muscular dystrophy can occur during childhood and adulthood. Here we discuss the common childhood muscular dystrophies that progress and affect muscles in various ways (4): Symptoms include

Difficulty in standing up from a sitting or lying position Wobbly walk Problem in jumping and running Falling frequently Swollen calf muscles (3)

Symptoms include

Falling frequently Walking on tiptoes Frequent muscle cramps Late appearance of symptoms than DMD (3)

Symptoms include

Weakness along with weak muscle tone (hypotonia) at birth Delay in walking Limp or floppy baby Poor head and neck control

Symptoms include

Stiffness of the spine Weakening of muscles from the upper arms and lower legs Loss of movement in the elbows, knees, spine, ankles, and back of the neck Locking of elbows in a bending position (3)

Symptoms include

Difficulty in hearing, talking, swallowing, and chewing Sloped shoulders or winged shoulder blades Muscle weakening around the mouth and eyes Curved spine (3)

Symptoms include

Stiffness of the spine Wobbly walk Falling frequently Muscle weakening around the hips spreading through the neck, shoulders, and legs (3)

What Are The Complications of Muscular Dystrophy?

Muscular dystrophy can impact the muscles, heart, and lungs, leading to complications such as (11):

Respiratory tract infections, such as pneumonia

Breathing difficulty or choking

Heart disorders, including arrhythmias and heart failure

How Is Muscular Dystrophy Diagnosed In Children?

Diagnosis of muscular dystrophy in children involves the following tests (2) (12):

Genetic test: This is performed to confirm if the cause behind the dystrophy is a genetic mutation.

Blood test: A blood test can detect the presence of creatine kinase enzyme. High levels of the enzyme will indicate a muscle disorder.

Muscle biopsy: A confirmatory primary test, where a small portion of the muscle is examined under the microscope to look for changes in the muscle tissue.

Electromyogram (EMG): This test is carried out to determine if the muscle weakness is due to destroyed muscle tissue rather than a nerve disorder.

Electrocardiogram (ECG or EKG): The test monitors the heart’s electrical activity for detecting any abnormalities in the heart rhythm or heart muscle damage.

How Is Muscular Dystrophy Treated In Children?

Currently, there is no cure for muscular dystrophy. However, the following management therapies and treatments are recommended depending on the type of muscular dystrophy, age of the child, and the extent of the condition.

Physical and occupational therapy: This could help the muscles function and prevent the joints from becoming stiff. Through the therapy, the child will be assisted with orthotics to improve their walk and maintain their balance (13).

Supportive devices: Braces or splints offer protection, support, and prevent deformity (12). Patients with weakened lungs may require assisted ventilation to ease the breathing during the nighttime (13).

Medications: Oral corticosteroids are administered to help the children with some muscular dystrophies walk for longer durations (14).

Some other management therapies include nutritional counseling, psychological counseling, and breathing exercises to improve quality of life.

Surgical interventions are also recommended to manage some conditions (12) (13):

Scoliosis surgery for correction of curved backbones and improvement of breathing.

Muscle-release surgery to treat muscle contractures and increase mobility.

Can Muscular Dystrophy Be Prevented?

Muscular dystrophy is a genetic disease and cannot be prevented. However, in case of a family history of muscular dystrophy, parents can get tested to know if they are carriers and plan accordingly.

What Is The Life Expectancy Of A Child With Muscular Dystrophy?

The life expectancy depends on the type of muscular dystrophy the child develops:

Duchenne: The child might live beyond 30 years and even marry and have children (15).

Becker: The child has an average life expectancy of 40 years (16).

Congenital: This type has a poor prognosis, with most children not surviving up to adolescence (17).

Emery-Dreifuss: Children may develop heart-related problems anytime between ten and 19 years with EDMD (18).

Facioscapulohumeral: The prognosis looks good with a life span of several decades of onset (4).

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