Muscular dystrophy (MD) symptoms vary based on the severity and type of the disease. Some people may notice symptoms early in childhood, while others might experience them much later in life. Discover more about seven key groups of symptoms to watch for in muscular dystrophy.

1. Muscle Problems and Atrophy

The most noticeable symptom of muscular dystrophy is muscle weakness. The specific areas affected depend on the type of muscular dystrophy. Over time, this progressive muscle weakness often leads to atrophy, where muscles shrink and lose strength.

Muscle Weakness

Children with Duchenne muscular dystrophy (DMD) typically first experience weak muscles near the trunk, such as the hips and shoulders. Weakness usually starts in the legs and spreads to the arms as the condition worsens.

Becker muscular dystrophy (BMD) has symptoms that are similar to DMD, but the symptoms typically progress more slowly, resulting in milder effects.

Facioscapulohumeral muscular dystrophy (FSHD) affects muscles in the face (including around the eyes and mouth), upper arms, and shoulders. Eventually, weakness may affect the legs and abdominal (stomach) muscles. FSHD usually appears before age 20 — known as adult-onset FSHD. This disease is less common in infants and children.

In Emery–Dreifuss muscular dystrophy (EDMD), muscle weakness primarily occurs in the calves in the legs, upper arms, and shoulders.

Limb-girdle muscular dystrophy (LGMD) typically affects the hips and thigh muscles first. As the disease progresses, this weakness can spread to the shoulders. It’s rare to have facial muscle weakness with LGMD.

Oculopharyngeal muscular dystrophy (OPMD) is a rare type of muscular dystrophy. It usually affects the muscles controlling the upper eyelids and the pharynx (throat). People with OPMD have problems talking, swallowing, and seeing. OPMD typically develops later in life, usually between ages 40 and 60. As it progresses, muscle weakness can affect the neck, shoulder, arms, and legs.

The type of muscular dystrophy you have can determine which muscle groups are affected. (Adobe Stock)

Muscle Contractions

Unlike other forms of MD, myotonic dystrophy (DM) causes myotonia, which is difficulty relaxing muscles after they contract. For instance, someone with DM might struggle to release a door handle after opening it.

Loss of Muscle Tone

In congenital muscular dystrophy (CMD) babies, often show hypotonia (low muscle tone) — sometimes called “floppy baby syndrome.” This weakness can make it hard for infants to feed from a bottle and delays milestones like sitting or crawling.

2. Walking Difficulties

Weakness in the muscles of the legs and hips can make walking challenging for people with muscular dystrophy, often leading to frequent falls.

For example, children with DMD and BMD may struggle to walk, run, jump, and climb stairs. Children with DMD may have a waddling gait (a side-to-side walking style). Others walk on their toes instead of flat on their feet. Toe-walking is also common in EDMD.

FSHD can make it hard to move, particularly when walking up or down stairs.

In LGMD, weakness in the muscles that lift the front foot can lead to foot drop, causing the toes to drag on the ground while walking. This can increase the risk of tripping and falling.

For some children with CMD, muscle weakness is so severe that they may never learn to walk.

Specialists like physical and occupational therapists play a crucial role in helping build muscle strength and maintain movement. They provide personalized exercises and stretches for you or your child. In addition, assistive devices like walkers, canes, and wheelchairs can offer extra support and improve mobility.

3. Upper-Body Symptoms

Certain types of muscular dystrophy affect the muscles in the upper body. In FSHD, the shoulder blades often stick out more than usual. This condition is called scapular winging, and it can affect a person’s ability to reach above their head or throw a ball. Weak facial muscles from FSHD can make tasks like drinking through a straw or blowing up a balloon more difficult.

EDMD also affects muscles in the shoulders and upper arms, causing muscle weakness.

People with myotonic dystrophy may develop drooping eyelids, swanlike necks, or long, thin faces caused by weak facial and neck muscles.

OPMD mainly affects the muscles of the eyes and throat. Common symptoms include:

• Drooping eyelids
• Shrinking of the tongue
• Problems chewing and swallowing
• Saliva pooling in the mouth

4. Muscle Contractures

Tendons connect your skeletal muscles to your bones, allowing movement. In muscular dystrophy, healthy muscle tissue is replaced by scar tissue and fat. Unlike normal muscle, scar tissue is stiff and inflexible, which can pull on joints and cause contractures — a condition where a joint becomes stuck in a bent or flexed position.

The specific joints affected by contractures depend on the type of muscular dystrophy. Children with DMD usually have contractures in the ankles. This is because the calf muscle in the lower leg gets replaced with scar tissue. It pulls on the Achilles tendon and contracts the joint.

People with EDMD can get contractures in the neck, arm, spine, and heel. The stiff joints make it harder to move around. In some cases, contractures lead to joint or limb deformities.

5. Scoliosis

Scoliosis refers to an abnormal sideways curvature of the spine, often resembling the letter “S” or “C.” People living with muscular dystrophy have a higher risk of scoliosis. This is because weak muscles can’t properly support the spine.

FSHD can also cause lordosis, a forward curve of the spine that makes the stomach stick out. Lordosis often develops because FSDH weakens the supportive muscles in the hips.

6. Dysphagia

Dysphagia is the medical term for difficulty swallowing. It’s a common issue in some types of MD, caused by weakened muscles in the pharynx (throat) and esophagus. Normally, food passes through the throat and esophagus into the stomach, but muscle weakness can disrupt this process.

Dysphagia is especially common in OPMD, but it may also occur in other types of MD, including FSDH.

Difficulty swallowing increases the risk of aspiration (inhaling food and liquids). This may lead to lung infections like pneumonia. If left untreated, dysphagia can become life-threatening.

7. Lung and Heart Problems

Certain types of muscular dystrophy are associated with lung and heart problems. Children with DMD and BMD don’t produce enough dystrophin protein. Dystrophin is important for holding muscle cells together. Without it, both skeletal and heart muscles can weaken over time, leading to:

• Cardiomyopathy (heart disease) — This condition prevents the heart from properly pumping blood.
• Breathing problems — The lungs and chest muscles aren’t strong enough to breathe as well as they should.

Children with DMD and BMD may not show typical signs of breathing difficulties, like shortness of breath. Instead, symptoms of low oxygen might include difficulty concentrating, trouble staying awake, frequent headaches, or nightmares.

If left untreated, DMD and BMD can cause respiratory failure. Weak coughing muscles also increase the risk of lung infections. This is because of the inability to cough and clear out bacteria. Other muscular dystrophy types associated with respiratory problems include LGMD and CMD.

According to the Muscular Dystrophy Association, EDMD is also associated with heart problems. People with this disease can faint from irregular heartbeats. Similar heart problems affect those with myotonic dystrophy and CMD.

The Next Steps

If you or your child begins experiencing any muscular dystrophy symptoms, talk to your health care provider. To diagnose muscular dystrophy, they can order tests like:

• Genetic testing to identify gene mutations (changes) linked to MD
• Electromyography (EMG) to measure how well the muscles function
• Blood tests to check for enzyme levels, such as creatine kinase, which can indicate muscle damage
• Muscle biopsy to examine muscle fibers under a microscope for signs of muscular dystrophy.

While there is no cure for muscular dystrophy, a combination of muscular dystrophy treatments can help manage symptoms and improve quality of life. These may include:

• Gene therapy to make healthy muscle proteins
• Steroids (corticosteroids) to treat inflammation from damaged muscles
• Occupational therapy and physical therapy to maintain strength and flexibility
• Assistive devices like braces, walkers, and wheelchairs for mobility support
• Surgery to address complications, such as scoliosis
• Participation in clinical trials for cutting-edge treatments and therapies

Find Your Team

On myMDteam, the social network for people living with muscular dystrophy and their loved ones, members come together to ask questions, give advice, and share their experiences with life and care challenges related to MD.

Do you or your loved one have muscular dystrophy? Which symptoms have you experienced? Share your story in the comments below, or start a conversation by posting on your Activities page.