Muscular dystrophy: what to know about these rare diseases

The muscles are life's unsung heroes. They make every breath, step, and heartbeat possible. Out of sight and (often) out of mind, muscles allow you to work, play, and enjoy the activities you love. For children with muscular dystrophy, however, maintaining muscle health and function is a challenge that grows more difficult over time.

Muscular dystrophy isn't a single condition but rather a group of dozens of diseases that have some key features in common. These diseases weaken muscles, eventually leading to muscle loss and causing a variety of health effects, such as scoliosis, heart and breathing conditions, and difficulty walking. Muscular dystrophy has no cure, but treatments can help slow its advance and manage related problems.

Why does muscular dystrophy develop?

Your muscles can't form or function properly without proteins from specific genes. In most cases, muscular dystrophy occurs when children inherit a change in at least one of these genes from a parent. Symptoms may begin in childhood or adulthood, and the disease may progress slowly or quickly. Every case is different. Rarely, patients develop, rather than inherit, a gene change that leads to muscular dystrophy.

Main forms of muscular dystrophy

It's difficult to know exactly how many people have muscular dystrophy, but it's clear this group of diseases is rare. It's also diverse. There are more than 30 forms of muscular dystrophy, with some featuring multiple genetic types. Some of the most common kinds of muscular dystrophy include:

Duchenne muscular dystrophy. This condition usually develops in children age 5 and younger, and it's most common in boys. It often begins by causing muscle weakness in the upper arms, pelvis, and legs and can affect the heart and lungs. Unfortunately, this disease eventually robs many children of their ability to walk.
Becker muscular dystrophy. This disease is closely related to Duchenne muscular dystrophy, although there are key differences between the two. With Becker muscular dystrophy, symptoms often appear later in childhood, and the disease takes longer to worsen. Loss of muscle strength tends to occur first in the shoulders, hips, thighs, and pelvis.
Myotonic dystrophy. Myotonic dystrophy is the most common adult-onset form of muscular dystrophy. It gets its name from lengthy muscle contractions called myotonia, which cause muscles restriction for a length of time instead of relaxing quickly.

Muscle matters: symptoms to watch for

Children with Duchenne or Becker's muscular dystrophy may have:

An abnormal gait that looks like waddling or causes them to walk on their toes or the balls of their feet
Difficulty climbing stairs
Difficulty standing after sitting or lying down
Large calf muscles
Leg pain
Poor endurance
Problems running and jumping
Problems with coordination and balance, including frequent falls or stumbles

For adults who develop myotonic dystrophy, the main symptom is myotonia. It can affect a wide range of everyday movements and activities, from eating and speaking — some people may experience locking of the jaw for a short time — to not being able to let go of an object, such as a steering wheel or doorknob, right away.

People with myotonic dystrophy may also develop:

Treatment options

The goal of muscular dystrophy treatment is to reduce symptoms, control related conditions, maintain functional ability and quality of life, and if possible, slow the disease's progression.

Assistive devices, such as walkers and wheelchairs, can allow children and adults to stay mobile if they can no longer walk.
Medications can help maintain muscles and treat complications. Glucocorticoids, for example, may boost muscle strength and slow weakening. Other classes of medications can help manage muscle spasms and cardiac conditions.
Rehabilitation therapies can be beneficial for many patients. For example, physical therapy can improve mobility, muscle strength, and range of motion. Physical therapists can also show children how to use assistive devices correctly. Speech therapy can strengthen facial and throat muscles. Occupational therapy helps patients adapt to living with muscular dystrophy. Patients who experience muscle weakening that affects their ability to breathe may benefit from respiratory therapy.
Surgery may be necessary for some patients. Spine surgery, for example, can help straighten the spine in children with severe scoliosis. Surgery can also treat cataracts and heart rhythm problems.

Absence of a cure doesn't equate to an absence of hope. Treatments can help patients find joy, purpose, and fulfillment.

Looking for an expert to help your child manage a long-term health challenge? Request an appointment with a board-certified pediatrician on the Reid Health pediatrics team or connect with Reid Health Pediatric Therapy for help.

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