MUSCULAR DYSTROPHY

Muscular Dystrophy Symptoms

Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. Ultimately, the specific symptoms can vary depending on the type of the condition and the individual, but here are some common symptoms:

• Muscle Weakness: Progressive muscle weakness is the hallmark symptom of muscular dystrophy. Basically, it typically begins in a specific group of muscles and gradually spreads to affect other muscle groups.
• Difficulty with Mobility: As muscle weakness progresses, individuals with muscular dystrophy may experience difficulty with walking, running, and climbing stairs.
• Muscle Atrophy: Muscles affected by muscular dystrophy may appear smaller or thinner due to muscle wasting (atrophy). In brief, this is often noticeable in the calf muscles.
• Contractures: Contractures are abnormal, fixed joint positions that can result from muscle weakness and imbalance. Along with the weakness caused by muscular dystrophy, contractures can further restrict range of motion in joints, making walking and arm use more challenging.

Additional Symptoms

• Loss of Motor Skills: Children with muscular dystrophy may experience a loss of motor skills over time, which can affect their ability to perform everyday tasks like dressing, feeding, and writing.
• Frequent Falls: Muscle weakness can lead to instability and frequent falls, especially in children with muscular dystrophy.
• Breathing Problems: Some types of muscular dystrophy can affect the muscles involved in breathing, leading to respiratory difficulties. Over time, the weakening of these muscles may make it harder to take deep breaths or clear mucus from the lungs and windpipe. This can increase the risk of respiratory infections. In some cases, individuals may also have trouble coughing effectively. If breathing or coughing becomes difficult, healthcare professionals can recommend techniques, therapies, or assistive devices to help keep the airways clear and support healthy breathing.
• Cardiac Issues: Certain types of muscular dystrophy can affect the heart muscles. For some individuals, this may mean that the heart doesn’t pump as efficiently, or the heartbeat can become irregular (arrhythmia). In fact, heart rhythm problems may even appear as one of the first complications to appear in some people with muscular dystrophy. Over time, the heart muscle can weaken, which increases the risk of fainting and other serious cardiac symptoms. Because of this, regular monitoring by a healthcare team is essential to watch for any changes and manage heart-related concerns early.

More Additional Symptoms

• Scoliosis: Scoliosis, an abnormal curvature of the spine, is more common in some forms of muscular dystrophy, as weakened back muscles can lead to spinal deformities. This condition is especially likely to develop in growing children who are unable to walk, since the lack of upright movement makes it harder for the spine to stay properly aligned. The curve in the spine can contribute to breathing difficulties and make it challenging for a child to find comfortable positions for sitting or lying down. In some cases, doctors may suggest surgery to correct the curvature and improve quality of life.
• Difficulty Swallowing: Muscles involved in swallowing can in some types of muscular dystrophy, lead to swallowing difficulties. This can make it hard to get enough nutrition and may also increase the risk of food or liquids entering the airways.  This is a condition that can result in aspiration pneumonia. In some cases, to help maintain proper nutrition and reduce these risks, doctors may recommend a feeding tube.

Additional Symptoms

• Cognitive Impairments: While many forms of muscular dystrophy primarily affect muscles, some, like myotonic dystrophy, can also involve cognitive impairments and emotional issues. In addition, certain types—such as Duchenne muscular dystrophy—may be linked to challenges with learning, intelligence, or social skills. Children with these types might experience higher rates of autism spectrum disorder, ADHD, obsessive-compulsive behaviors, or anxiety when compared to their peers. If your child is facing learning, intellectual, or mental health difficulties, it’s important to communicate with their school. Ask about accommodations and support services that can help your child thrive both academically and socially.
• Weakening Bones: Children with muscular dystrophy may have lower bone density than usual, making their bones weaker over time. This is especially true for those who use wheelchairs, which can increase the risk of fractures. In some cases, healthcare providers may recommend medications or other interventions to help support bone health.

These symptoms can appear at different ages and may progress at different rates depending on the type of muscular dystrophy. Not every person will experience all of these symptoms, and the severity can vary widely. If you notice any of these signs in your child or if your child is struggling with daily activities, consulting a healthcare professional can help guide you toward the best next steps.

Types of Muscular Dystrophy

It’s important to note that there are various types of muscular dystrophy, each with its own specific genetic mutations, unique characteristics, and progression. Some types primarily affect specific muscle groups, while others are more widespread. The age of onset, rate of progression, and severity can also differ between types. If you suspect that you or your child may have muscular dystrophy or are experiencing symptoms, it’s essential to consult with a healthcare professionals like us for a proper diagnosis and to develop a tailored management plan. Here are some of the common types that can affect children

Duchenne Muscular Dystrophy (DMD): 

DMD is one of the most well-known and severe forms of muscular dystrophy. It primarily affects boys and typically becomes evident in early childhood. Children with DMD often lose the ability to walk by their early teens and may experience cardiac and respiratory complications.

Early signs of DMD often include:

• Delayed motor milestones: Children may start walking later than expected.
• Frequent falls: Muscle weakness can make it hard to keep balance.
• Difficulty rising: Getting up from the floor or a seated position can be challenging.
• Trouble running, jumping, or climbing stairs: Activities requiring leg strength are noticeably impacted.
• Waddling gait: The classic walking pattern seen in DMD.
• Walking on toes or the balls of the feet: This is often due to tight calf muscles.

Other common features include:

• Enlarged calf muscles: Sometimes referred to as “pseudohypertrophy,” where the calves look large but are actually weak.
• Muscle pain and stiffness: Discomfort in the affected muscles is not uncommon.
• Learning or behavioral challenges: Some children may experience difficulties with learning or emotional regulation.
• Delayed growth: Overall physical development may appear slower than peers.

As the condition progresses, muscle weakness extends to involve the arms and trunk, and doctors should monitor for complications involving the heart and lungs.

Becker Muscular Dystrophy (BMD):

BMD is similar to DMD but progresses more slowly and is typically less severe. It can also affect boys and often has a later onset, typically in adolescence or early adulthood. While the symptoms of BMD resemble those of Duchenne muscular dystropy, such as muscle weakness and difficulty with motor skills—they usually begin in the teens, early adulthood, or sometimes even later (mid-20s or beyond). The progression of muscle weakness in BMD is generally more gradual, which means individuals may retain mobility and independence longer compared to those with DMD.

Myotonic Dystrophy (DM):

Myotonic dystrophy is characterized by muscle stiffness (myotonia), weakness, and myotonic (prolonged) muscle contractions. It can affect both children and adults and may involve various systems, including the muscles, heart, and eyes.

In myotonic dystrophy, muscles often have trouble relaxing at will—so, for example, it might be difficult to let go of someone’s hand after a handshake. The facial and neck muscles are frequently among the first to be affected, and symptoms can begin anywhere from shortly after birth to adulthood, most commonly between the ages of 20 and 30. As the condition progresses, weakness can extend to muscles involved in breathing, which may lead to difficulties—especially during sleep. Heart rhythm problems and weakening of the heart muscle may also develop, and for some, cardiac issues can even be the first sign of the disease. Myotonic dystrophy is sometimes referred to as Steinert’s disease or dystrophia myotonica.

Facioscapulohumeral Muscular Dystrophy (FSHD):

FSHD often presents in the teenage years, leading to muscle weakness and wasting, particularly in the face, shoulders, and upper arms. It can vary in severity. Weakness usually begins in the facial muscles—sometimes making it difficult to fully close the eyes, which can result in dryness or discomfort. As the condition progresses, muscles around the shoulders and upper arms become affected, and the shoulder blades may stick out like wings when the arms are raised (a feature known as scapular winging). The muscle weakness often affects one side of the body more than the other. In some cases, mild hearing loss may also occur.

Limb-Girdle Muscular Dystrophy (LGMD):

LGMD is a group of disorders that affect the muscles of the shoulders and hips. There are many subtypes, each with specific genetic mutations and clinical presentations. Onset can occur in childhood or later.

This form of muscular dystrophy often leads to progressive weakness in the limb-girdle muscles—the muscles surrounding the hips and shoulders. Symptoms may range from mild difficulty with activities like climbing stairs or lifting objects, to more significant challenges such as trouble walking or raising the arms. The age at which symptoms appear, their severity, and how quickly the condition progresses can vary widely from person to person. Some individuals may experience only minor disabilities over time, while others may develop more serious limitations affecting daily activities.

Congenital Muscular Dystrophy (CMD):

CMD includes a group of disorders characterized by muscle weakness from birth or early infancy. Symptoms vary depending on the specific subtype and can involve not only the muscles but also the brain and other organs.

Children with congenital muscular dystrophy often show signs at birth or before the age of 2. Muscle weakness is commonly present early on, and some babies may appear unusually “floppy” due to poor muscle tone. As they grow, infants and toddlers with CMD might take longer than expected to reach developmental milestones such as rolling over, sitting up, or walking. In some cases, these milestones may not be reached at all. The progression of CMD can vary widely—some forms are relatively mild and progress slowly, while others may worsen rapidly and lead to significant health challenges.

Emery-Dreifuss Muscular Dystrophy (EDMD):

EDMD typically affects the upper arm, lower leg, and heart muscles. It can cause contractures (joint stiffness) and cardiac issues. Symptoms often begin in childhood, sometimes as early as age 10. One of the earliest signs can be joint stiffness—children may walk on their toes due to tight tendons in the heels or have difficulty bending their elbows. Over time, muscle weakness and wasting develop, especially in the shoulders, upper arms, and calves.

A key feature of EDMD is its potential to affect the heart. Some individuals develop heart rhythm problems that can lead to fainting or other complications, so regular monitoring by a healthcare team is important.

Oculopharyngeal Muscular Dystrophy (OPMD):

OPMD primarily affects the eye muscles and throat, leading to eyelid drooping, difficulty swallowing, and general muscle weakness. It usually has an adult-onset but can affect children in rare cases.

This type of muscular dystrophy is well known for weakening the eyelids (causing ptosis) and the throat muscles, which can lead to problems with swallowing and weakness of the tongue. In some cases, individuals may also experience muscle weakness in the limbs and near the center of the body, from top to bottom. Symptoms often begin in mid-adulthood—typically in the 40s or 50s—and progress slowly over time. As the condition advances, some people may also notice increasing difficulty with movement.

Distal Muscular Dystrophy:

This group of muscular dystrophies primarily affects the muscles farthest from the center of the body, such as those in the hands and feet. It can have varying subtypes with different genetic causes.

Fukuyama Congenital Muscular Dystrophy (FCMD) and Muscle-Eye-Brain Disease (MEB):

These are congenital muscular dystrophies that often affect children, leading to muscle weakness and intellectual disabilities. They also involve eye and brain abnormalities.

Conclusion

It’s essential to consult with a healthcare professional to determine the specific type of muscular dystrophy affecting a child. Regardless, doctors often order genetic testing to accurately make a diagnosis, as it can help guide treatment and management strategies. The management of this condition typically involves a multidisciplinary approach to address the various symptoms and complications associated with each type.

Treating Muscular Dystrophy

Unfortunately, a cure for muscular dystrophy does not exist, but our skilled pediatric orthopedic surgeons can partner with you and your child to achieve the ultimate level of function and health. Above all, therapy for your child’s unique case of this disease is focused on symptom management. Thus, we may recommend any of the following treatments:

• Physical therapy
• Positioning aids
• Braces and splints
• Medications for pain, inflammation, and other symptoms
• Nutritional and dietary consultation
• Treatment for scoliosis
• Surgical intervention to maintain a child’s ability to sit, stand, and move around without impediment

Why Choose Medical City Children’s Orthopedics and Spine Specialists?

The Medical City Children’s Orthopedics Spine Specialists have offices in  Dallas, Arlington, Flower Mound, Frisco, and McKinney, TX.  Our highly qualified, experienced orthopedic doctors and surgeons are recognized as leaders in diagnosing and treating children for orthopedic, congenital, and sports related injuries. Furthermore, the practice is well recognized for the scope of services it offers, as well as its doctors’ medical expertise and experience.

The orthopedic surgeons at The Medical City Children’s Orthopedics Spine Specialists are board-certified, having completed rigorous training at the finest medical institutions in the country. Additionally, they specialize in all aspects of orthopedic care for children, including disorders of the knee, shoulder, elbow, hip, spine, foot, and ankle; trauma; and congenital conditions.

Finally, each patient’s treatment program is tailored to the patient’s specific needs. Also, we continue to monitor patients with ongoing reevaluations and adjustments as the recovery progresses. Whether your child plays sports, just runs around with friends like kids do, or suffers from an inherited condition, The Medical City Children’s Orthopedics Spine Specialists is here to help. Additionally, the team offers the most advanced treatment, which combines the latest in cutting-edge technology.  Overall, the surgeons prioritize minimally invasive techniques.  However, when necessary the surgeons will use sophisticated surgery to treat children and get them back to normal.

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Footnote: 

Center for Disease Control and Prevention: Muscular Dystrophy