Many parents find it especially distressing when their child struggles to reach developmental milestones like sitting independently, walking, running, or climbing stairs. If those challenges are tied to muscular dystrophies, a group of genetic disorders that lead to progressive muscle weakness, it is natural to have questions about the path ahead. Depending on the type of muscular dystrophy, symptoms may appear during infancy, early childhood, adolescence, or adulthood, including frequent falls, difficulty keeping up with peers, or a distinctive waddling gait.

There is no cure yet. However, certain remedies help. Physical therapy plays an important role in maintaining your child's mobility, flexibility, strength, and independence throughout the course of the disease.

Early intervention can help preserve mobility and function for as long as possible. Call the Las Vegas team at Suarez Physical Therapy to get a thorough assessment and make a customized treatment plan to help maximize your child’s mobility, comfort, and quality of life. Before scheduling, let us take a detailed look at muscular dystrophies and how physical therapy can help.

What Is Duchenne Muscular Dystrophy (DMD)?

Duchenne muscular dystrophy (DMD) is the most common and one of the most severe forms of childhood muscular dystrophy. It is a progressive genetic disorder that gradually affects the skeletal, respiratory, and heart muscles.

DMD is mainly found in young male children, and it occurs in approximately 1 in every 3,500 to 5,000 live male births. This population clustering occurs due to the disease's genetic makeup. DMD is an X-linked recessive disorder.

The abnormal gene is on the X chromosome, and your child's body fails to make a protein called dystrophin, which serves as a shock absorber, helping stabilize muscle fibers during contraction. Boys have one X chromosome (XY), so if one gene is faulty, they will develop the disease. Most female carriers have few or no symptoms, although some may develop mild muscle weakness or heart involvement, as their second X chromosome is usually active enough to provide protection. However, they can carry the dystrophin gene.

During infancy, you may see that your child is developing normally. As they grow to toddler or preschool age (usually 2 to 5 years), however, the symptoms of dystrophin deficiency typically begin to appear, and physical delays become evident. The common symptoms include the following:

  • Frequent falls and clumsiness — Your child might trip frequently and lose their balance much more often than other children
  • Waddling gait — Your child may walk on tiptoes or with a noticeable wobbling gait caused by weak muscles supporting his/her pelvis
  • Enlarged calf muscles (pseudohypertrophy) — Your child's calf muscles may look exceptionally big or muscular to you. This pseudohypertrophy or enlargement, however, is actually the result of muscle cells being replaced by fat or scar tissue
  • Learning and speech delays — Dystrophin is also expressed at low levels in the brain. As a result, some children with DMD may experience difficulties with their learning, attention, language development, or memory, or a combination thereof, affecting approximately one-third of children with DMD

As the weakness in your child's muscles near the body (that is, thighs and hips) progresses, you will notice your child making more and more unique compensations. One of the classic clinical signs for this is Gowers' sign in muscular dystrophy.

Children with DMD cannot stand up from a sitting position on the floor. They have to be helped. Instead, they will roll onto their hands and knees, raise their hips to the ceiling, and literally "walk" their hands up their own shins, knees, and thighs to propel their bodies back into an upright position. The presence of Gowers' sign is an important clinical sign that should prompt further evaluation, including diagnostic genetic evaluation and serum creatine kinase (CK) testing, to be ordered by the child's healthcare provider.

Historically, people with Duchenne muscular dystrophy survived only into their late teens or early adulthood. However, the current medical world has changed significantly thanks to the growth of multidisciplinary care.

Consistent, individualized physical therapy to manage joint contractures (muscle shortening), regular cardiac monitoring, and corticosteroid treatments will help slow the progression of muscle degeneration. With modern multidisciplinary care, many individuals now live well into their 30s and, in some cases, beyond. The most important factor in maintaining your child's independent mobility as long as possible is early diagnostic identification.

Common Types of Muscular Dystrophy in Children

Duchenne muscular dystrophy is the most common type of muscular dystrophy in children. However, there are several types of childhood muscular dystrophy that you may encounter. The other forms of the disorder have different ages of onset, different rates of progression, and unique patterns of muscle weakness. It is important to be aware of these differences so you can understand your child's specific journey to diagnosis and design their treatment plan accordingly.

Becker Muscular Dystrophy

Becker muscular dystrophy (BMD) is closely related to Duchenne, having the same genetic inheritance pattern (X-linked recessive) and principally affecting males. However, the difference lies in the protein dystrophin. If your child has Becker MD, they produce some dystrophin protein, but it is shortened or less functional.

Consequently, Becker MD is much less severe and progresses much more slowly. Symptoms are not usually seen in early toddlerhood but rather in later childhood, adolescence, or early adulthood (normally between the ages of 11 and 25). The following are early signs to look out for:

  • When your child experiences severe cramping during his/her exercise or physical activity
  • Trouble running, climbing stairs, or playing sports at higher speeds
  • A gradual loss of strength that starts in the hips and pelvic area, and then progresses to the shoulders over time

Because muscle breakdown is gradual, your child can often maintain the ability to walk well into adulthood.

Congenital Muscular Dystrophy

Congenital muscular dystrophy (CMD) is usually present at birth or becomes apparent within the first two years of life. In contrast, other muscular dystrophy subtypes may not appear until later childhood or adolescence. Congenital muscular dystrophy refers to a group of rare inherited disorders that affect muscle development before birth. You might notice that your baby has congenital MD if he/she shows signs of the following:

  • Hypotonia (low muscle tone) — Severe, generalized muscle weakness and low muscle tone that you can distinctly feel when lifting your child
  • Poor motor control — Difficulty reaching motor skills that are important for physical development, for example, turning over, holding their head up, rolling over, or sitting independently
  • Contractures and spinal curvature — Your child's muscles are unable to support his/her skeleton symmetrically, which increases the risk of developing scoliosis (abnormal curvature of the spine) and early stiffening of their joints

In the case of children with Facioscapulohumeral MD, there will be an extremely characteristic pattern of muscle wasting. The name speaks for itself, and it indicates the main areas it affects: your child’s face (facio), shoulder blades (scapulo), and upper arms (humeral).

Facioscapulohumeral Muscular Dystrophy (FSHD)

FSHD can occur at any time, but often during adolescence. Early signs are very specific, such as your teen not being able to whistle, struggling with using a straw to drink liquids, or maybe being unable to completely close their eyes during sleep.

As their shoulder girdle weakens, their shoulder blades may protrude outward (scapular winging) and make it hard for your young person to lift their arms over their shoulders.

How Doctors Diagnose Childhood Muscular Dystrophy

If you discuss your child's motor delays or frequent falls with your pediatrician, they will begin a structured diagnostic evaluation to identify the cause. A single examination is not enough to get a diagnosis of muscular dystrophy. Rather, your child's doctor will employ a set of biochemical markers, genetic testing, and electrophysiologic and laboratory testing to determine the precise condition your child suffers from.

Step 1: The CPK Blood Test

A blood test known as a creatine phosphokinase (CPK) blood test is almost always the first test that will be ordered. Creatine kinase is an important enzyme that is normally present within the cells of healthy muscles and aids them in functioning.

In muscular dystrophy, your child's muscle fibers are damaged or are being broken down, which causes the enzyme to enter the bloodstream directly through the walls of your child's muscle cells. In a normal child, CPK levels are normally 100 to 200 U/L, but in a child with Duchenne and Becker muscular dystrophy, their CPK level is often very high, typically 10,000 or more, and sometimes even greater than 50,000 U/L.

If CPK is very high, it is a strong indication of an ongoing muscle disease and will require special testing.

Step 2: Genetic Testing

Once elevated enzyme levels are detected, your medical team will request a genetic test to check for muscular dystrophy (MD). This is the gold standard diagnostic test.

Geneticists analyze a sample of your child's blood or saliva to search for certain mutations, deletions, or duplications in the DMD gene. The test not only helps to confirm a diagnosis of muscular dystrophy. It helps to determine the exact genetic defect. It is essential to know the exact mutation, as this will help distinguish between Duchenne and Becker variants and determine eligibility for mutation-specific therapies when appropriate.

Step 3: Electromyography (EMG)

A doctor may use an electromyography (EMG) test to evaluate your child's muscle electrical activity.

In this test, small, thin needles (electrodes) are inserted through the skin into the muscle tissue, and the electrical activity of the muscle is recorded at rest and during contraction. If your child has muscular dystrophy, the EMG will reveal clear, brief, low-amplitude electrical patterns that indicate the weakness is most likely not associated with the nervous system but rather with the muscle tissue itself.

Step 4: Muscle Biopsy

A muscle biopsy was historically an important diagnostic tool. This includes the surgical removal of a small portion of muscle tissue (typically from the thigh) and its examination under a microscope to determine whether dystrophin protein is present.

In the era of modern, highly accurate, and widely available genetic testing, muscle biopsies are less common today. Your specialist might still suggest it if your child's DNA test is inconclusive or if he/she still wants to evaluate the dystrophin expression that your child's body can produce.

Treatment Options for Childhood Muscular Dystrophy

As mentioned earlier, there is no cure for muscular dystrophy, but the treatment options have come a long way. Modern management is based on treating the disease aggressively and multidisciplinarily to reduce disease progression, maintain your child's independence, and enhance their quality of life. Using the following pharmacology, state-of-the-art genetic treatments, and attentive and focused care, you can help your child maintain function and mobility for as long as you can:

Medical Options and Pharmacological Support

Corticosteroids are a key component of the pharmacological basis of treating Duchenne and Becker muscular dystrophy. The medications prednisone and deflazacort are often used because they reduce inflammation and slow muscle degeneration. If started early enough in the course of the disease, corticosteroids can be used to:

  • Extend the period during which your child can walk independently
  • Help preserve upper limb function and arm function
  • Protect respiratory and cardiac function by delaying the deterioration of the diaphragm and heart muscles

Your pediatric cardiologist also might prescribe heart medicines like ACE inhibitors or beta-blockers in advance of your child developing signs of heart strain because the cardiac muscle walls weaken over time, too, in people with muscular dystrophy.

Targeted Gene Therapy and Exon Skipping

Recent advances in molecular medicine have led to mutation-specific therapies and genetic advances. There are several disease-modifying therapies (exon-skipping drugs) approved for certain specific genetic mutations.

Medications, for example, etepirsen (EXONDYS 51), act like a molecular patch for children with certain DNA deletions. During the process of making protein, etepirsen will skip over a damaged portion of the gene (Exon 51) in your child's cells. The result is that their body produces a shorter but still partially functional form of the dystrophin protein, changing the severe course of Duchenne into a much milder one, like that of Becker.

Other treatments, like Golodirsen and Viltolarsen, target other exons.

Daily Therapies

Medical interventions are only fully effective when paired with daily, hands-on supportive care, namely:

  • Physical therapy — It is a cornerstone of daily management. A specialized physical therapist works with your child to implement a gentle stretching program, low-impact exercises, and bracing (orthotics). The main objective is to prevent muscle and tendon shortening and hardening, which can lead to joint pain and stiffness (contractures).
  • Respiratory therapy — As your child grows into an adolescent, the muscles used for breathing may start to get tired. A respiratory therapist will monitor your child's lung capacity and may introduce breathing exercises, cough-assist devices, or non-invasive nighttime breathing support (BiPAP) to keep your child's lungs fully expanded and free from infection.

Surgical Interventions

Progressive muscle tightening and skeletal changes may proceed more rapidly than therapy, in which case surgical interventions can offer significant relief.

If, for example, your child's Achilles tendons are very tight and tend to lock your child onto their tiptoes, a small tendon release surgery can improve ankle positioning and walking ability and extend the time they can walk without support. Plus, when your child has very severe scoliosis due to weak spinal muscles, a spinal fusion surgery can straighten your child's back, making it easier for him to be comfortable in the wheelchair and breathe more comfortably.

How Families Can Adapt to Life With Muscular Dystrophy

Receiving a diagnosis means adjusting to a new way of living with muscular dystrophy, a journey that requires as much emotional resilience as it does medical care.

The first step to developing a healthy support system is to acknowledge that you and your child are likely feeling grief, anxiety, and stress. Consider family counseling, mental health therapy, or attending specific muscular dystrophy support groups. These can provide the opportunity to connect with a community of parents who understand your daily struggles and can offer support and insights.

As the illness advances, there will be practical changes that will have to be made to ensure your child's independence and safety. Gently making the move toward mobility devices, for example, ankle-foot orthoses (AFOs) and walkers, and eventually to using special powered wheelchairs will be important. Making your home accessible to children in wheelchairs involves assessing your home early and making modifications that are easy and affordable for you to implement, such as installing a ramp, widening doorways, lowering counters, and making family vehicles more wheelchair-friendly.

On the other hand, take advantage of national organizations such as the Muscular Dystrophy Association to support the transition to these major changes. Your family can use MDA resources to access specialized multidisciplinary clinics, financial aid information, equipment loan programs, and summer camps that welcome your child and other families on similar journeys.

Find a Physical Therapist Near Me

A childhood muscular dystrophy diagnosis reshapes your family's world. However, your bottom line remains the same: you want your child to live the fullest, most active life possible. Each strategic stretch and every low-impact exercise directly helps them maintain their mobility, prevent muscle contraction, and increase their physical freedom. Your family has an entire community ready to stand with you.

Take a decisive step forward for your child's strength today. Call Suarez Physical Therapy at 702-368-6778 to schedule a specialized pediatrics evaluation in Las Vegas. Let us put in place a dedicated care plan to help your child move, smile, and thrive.