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    Move Forward Guide

    Physical Therapist's Guide to Muscular Dystrophies in Children

    Muscular dystrophies include several genetic disorders that result in progressive muscle weakness and a loss of muscle mass, often termed muscle "wasting." The muscles that control the arms and legs (the voluntary muscles) are often the most involved, but different groups of muscles can be affected. Each form of muscular dystrophy progresses at a different rate. Several types of muscular dystrophies affect children; symptoms of the disease can begin at any time from birth to the teen years. Boys are affected more often than girls. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, occurring in approximately 1 in 3,500 to 6,000 boys born in the United States each year. Physical therapists design individualized treatment programs to help children with muscular dystrophy reach their full potential.


     

    What is Muscular Dystrophy?

    Muscular dystrophy (MD) is a group of genetic diseases caused by a change or mutation in one of the genes located on the chromosomes (DNA) in human cells. It is not caused by an injury or harmful activity. Muscular dystrophy causes progressive muscle weakness and a decrease in muscle mass over time. It affects people of all races and ages worldwide. Nine types of dystrophies have been identified, and many types have variations or subtypes, resulting in more than 30 different forms of genetic disorders. The most common types of muscular dystrophy are:

    • Duchenne
    • Becker
    • Myotonic
    • Facioscapulohumeral

     

    Muscular Dystrophy in Children

    Several types of dystrophies affect children; symptoms of the disease might begin at any time from birth to the teen years. Boys are affected more often than girls, although girls may exhibit some of the effects of muscular dystrophy or be carriers of the disease.

    Duchenne muscular dystrophy is the most common form of muscular dystrophy in children; however, many other forms of the disorder can affect children. The exact number of children who have some type of dystrophy is not known.

    Our genes determine our characteristics and traits; the particular genes that cause muscular dystrophy control the proteins that are critical to muscle health. When the DMD mutation is present in the genes, a protein in muscle cells, dystrophin, is changed or missing or not produced in sufficient amounts. Proteins are essential for muscle cell health; when they do not function properly, the muscle has an inability to repair itself and becomes weaker.

    A child’s parents may be carriers of the abnormal gene that causes muscular dystrophy. It can may be inherited in 3 ways:

    • Autosomal dominant inheritance occurs when a child receives a normal gene from 1 parent and a defective gene from the other parent, who usually has the disorder. Each child has a 50% chance of inheriting the gene, and males and females are equally at risk.
    • Autosomal recessive inheritance occurs when both parents carry and pass on the defective gene. Each parent has 1 defective gene, but neither parent is affected by the disorder. Each child has a 25% chance of inheriting both copies of the defective gene and developing muscular dystrophy. Each child also has a 50% chance of inheriting 1 gene and becoming a carrier of muscular dystrophy, with the ability to pass the dystrophy on to their children. Males and females are equally at risk.
    • X-linked (or sex-linked) recessive inheritance occurs when a mother carries the muscular dystrophy gene on 1 of her 2 X chromosomes and passes that gene to her son (males always inherit an X chromosome from their mother and a Y chromosome from their father; daughters inherit an X chromosome from each parent). Sons of carrier mothers have a 50% chance of inheriting muscular dystrophy. Daughters also have a 50% chance of inheriting the defective gene, but they also inherit a healthy X chromosome from the father and usually do not have muscular dystrophy. Fathers with the defective gene cannot pass an X-linked disorder to their sons, but daughters may be carriers and may pass the gene on to their children. Girls who are carriers may exhibit milder symptoms of muscular dystrophy.
     

    Signs and Symptoms

    All dystrophies are genetic and progressive, and cause muscle weakness that gets worse over time, leading to muscle wasting. Many dystrophies cause contractures (shortening or hardening of muscles, tendons, or tissues) that affect the joints, curvature of the spine, respiratory (breathing) and cardiac (heart) problems, and other symptoms. Children with muscular dystrophy experience activity limitations and participation restrictions. Early signs and symptoms may include:

    • Any delay in motor milestones—the ability of a child to learn how to sit up, crawl, walk, and run at typical ages. These signs should be investigated immediately to determine the cause of the delay.
    • The Gowers sign, which describes the way a child gets up to stand by pushing with the hands on the thighs. This sign is often the first indication of pelvic muscle weakness, and is highly associated with Duchenne muscular dystrophy.
    • Turning on to the stomach before getting up from the floor after 3½ years of age, which can be a sign of muscle weakness.

    Other issues associated with muscular dystrophies may include: behavioral issues, cognitive (intellectual function) issues, and/or speech and language problems. Up to 30% of individuals with Duchenne muscular dystrophy have associated behavioral and intellectual impairments.

     

    How Is It Diagnosed?

    The Centers for Disease Control and Prevention states that some muscular dystrophies are not identified until a child is 3 to 6 years of age; however, these disorders could be diagnosed earlier. Often, parents must wait 1 to 2 years to obtain an accurate diagnosis even after symptoms of weakness are present. Seeking treatment as early as possible and advocating for care by experts in movement disorders can make a difference in helping children with muscular dystrophy reach their full potential.

    Diagnosis of muscular dystrophy is typically made by a physician who may:

    • Order blood tests to determine levels of the muscle protein and other factors, or notice that a blood test ordered for other reasons shows an alteration in muscle proteins
    • Refer the child to specialists for genetic testing and counseling
    • Conduct a muscle biopsy

    Genetic testing is particularly helpful if a history of muscular dystrophy is present in the family over several generations. Genetic counseling can help parents determine if they are carrying a mutated gene that causes the disorder. Tests during pregnancy carry some risk, but may help expectant parents find out if a child has muscular dystrophy when a genetic history is present or suspected. Newborn screening also should be completed when the family has a history of muscular dystrophy.

    Diagnostic imaging, strength and exercise testing, electromyography studies, and other diagnostic methods may be available for diagnosing varying types of dystrophies, and new tests are constantly being developed.

    If your child is already receiving physical therapy for a developmental delay and/or was initially diagnosed with low muscle tone, your physical therapist may refer your child back to the physician to rule out a muscular dystrophy if certain clinical signs are present.

    Signs and symptoms that may indicate a need for follow-up with your physician might include:

    • Significant muscle weakness
    • A positive Gower’s sign (putting hands on thighs to stand up)
    • Delayed walking
    • Difficulty with running, climbing stairs, jumping
    • Frequent falls
    • Toe walking
    • Delayed speech and language
    • Delayed motor development
    • Head lag (difficulty controlling the head or neck)
     

    How Can a Physical Therapist Help?

    Physical therapists help children with muscular dystrophy maintain function by managing complications of the disorder’s progression, such as muscle weakness and contractures. Each child with muscular dystrophy has unique needs based on age, the type of dystrophy, and the progression of symptoms. Physical therapists work with children and their families, as well as with other health care professionals, to develop individualized treatment plans to help children reach their full potential.

    The physical therapist is an important partner in health care and fitness for anyone diagnosed with muscular dystrophy. Physical therapy should begin as soon as possible after diagnosis and before joint or muscle tightness has developed. Physical therapists identify muscle weakness, and work with each child to keep muscles as flexible and strong as possible, help reduce or prevent contractures and deformities, and encourage movement and mobility for optimal function throughout all the stages of life. Each treatment plan is designed to meet the child’s needs using a family-centered approach to care. If assistive devices are needed, the physical therapist may collaborate with other professionals to determine the best walking aids, braces, or wheelchair for each child.

    Physical therapists know the importance of addressing the child's needs with a team approach, including all involved health care professionals, in order to provide holistic care to ensure mobility throughout the life span.

    Evaluation

    The child's physical therapist will perform an evaluation that includes a detailed birth and developmental history. The therapist also will ask about the child's overall health, and about any parental concerns. The physical therapist will conduct a physical examination and perform specific tests to determine the child's motor development, such as sitting, crawling, getting up to stand, and walking. The child’s therapist may conduct other tests to more objectively assess changes and the progression of the disorder over time, in order to predict when changes in care or mobility (wheelchair, bracing) might be indicated.

    Treatment

    Physical therapists work with children who have muscular dystrophy to prevent or reduce joint contractures, maintain or improve cardiorespiratory and muscle strength, adapt activities or the child’s home or school environments to promote movement and mobility skills, and increase daily activities, which encourage participation in the community. If your child has been diagnosed with muscular dystrophy, treatment may include:

    Passive and active stretching. Your physical therapist will perform gentle “passive” stretches for your child, gently moving their legs and arms, and teach you and your child how to perform active stretches in order to increase joint flexibility (range of motion) and prevent or delay the development of contractures.

    Exercises to maintain strength. Your physical therapist will teach you and your child exercises to maintain muscle and trunk strength and to use good posture and body mechanics throughout the life span. Your therapist will identify games and fun tasks that promote strength. As your child grows, your physical therapist will identify new games and activities to reduce the risk of obesity and increase heart health. Activities such as bike riding and swimming are great to consider; your physical therapist will help you make sure these activities are not too strenuous or fatiguing. Overexercising can damage muscles. Parents are encouraged to seek physical therapist services early in order to identify the best strengthening activities for their child.

    Exercises for breathing. Your physical therapist may provide a program to maintain good respiratory strength, or may work with respiratory therapists or speech therapists to design such a program.

    Improvement of developmental skills. Your physical therapist will help your child learn to master motor skills such as crawling, getting up to stand, walking, and jumping. Your therapist will provide an individualized plan of care that is appropriate based on your child's developmental level and motor needs.

    Physical fitness and activity. Your physical therapist will help determine the specific exercises, diet, and community involvement that will promote your child’s good health. When needed, mobility aids such as wheelchairs, splints and braces, and home devices may be prescribed to help maintain mobility.

    Physical therapy may be provided in the home or at another location, such as a community center, school, or a physical therapy outpatient clinic. Your child's needs will vary greatly as they age, and your physical therapist will adjust treatments as needed. Physical therapists work with other health care professionals, including speech/language pathologists or occupational therapists, to address each individual's needs as treatment priorities shift.

    If your child is expected to have corrective orthopedic surgery for scoliosis or contractures, your physical therapist can assist in evaluating the need for equipment, orthopedic appliances used for support, or bracing that might be needed to foster a quick recovery during postop rehabilitation. Your physical therapist can also work on early mobilization postop to help with recovery and maximize your child’s independence.

     

    Can this Injury or Condition be Prevented?

    Genetic counseling is important for families that have a known, inherited dystrophy. However, many spontaneous mutations—which occur in the womb when neither parent has a known history of the disorder—can result in muscular dystrophy. Excellent prenatal care is important for all pregnant women; some women may want to be tested for specific diagnoses that can be detected during early pregnancy, including muscular dystrophy.

    Genetic testing can be used during pregnancy for a prenatal diagnosis of muscular dystrophy. You may be offered these tests if you're pregnant and there's a possibility that your unborn baby may have muscular dystrophy.

    Once a child is diagnosed with muscular dystrophy, the physical therapist and other health care professionals will provide education and therapeutic techniques to prevent or reduce some of the additional complications that might occur following birth such as developmental delay, poor strength and posture, contractures, and abnormal movement or walking patterns.

    The prognosis for people with muscular dystrophy varies according to the type and stage of the disorder. Some cases may be mild and progress slowly over a life span, while others may cause severe muscle weakness and functional impact. Some children with muscular dystrophy die in infancy, while others live into adulthood with mild to moderate disability.

    Physical therapists are dedicated to ensuring that children with muscular dystrophy and their families are not alone; they work tirelessly to help each individual reach their full potential.

     

    Real Life Experiences

    Donald is a 4-year-old boy recently enrolled in preschool. During his first week at school, his teacher noticed he had difficulty getting up from the floor after story time. He turned over onto his stomach and used his arms to push on his legs and stand up. The teacher asked a visiting physical therapist to watch Donald stand up. The physical therapist recognized this standing pattern as a Gowers sign, suggesting muscle weakness.

    That evening, the teacher and the physical therapist spoke with Donald’s parents, who said they were concerned that Donald seemed weaker than his siblings. With parental permission, the physical therapist contacted Donald’s primary physician and shared her observation. Following diagnostic testing, the physician diagnosed Duchenne muscular dystrophy and referred Donald for physical therapy treatment.

    Donald's physical therapist developed an individualized home-exercise program for him, designed to maintain strength in the muscles of his arms, trunk, and legs, and to promote heart and lung health. She taught the program to his parents, and encouraged the family to do the gentle exercises and stretches together every day. The physical therapist prescribed foot braces to wear during sleep at night to help maintain his ankle range of motion. She cautioned the family to avoid overexercising and to not have Donald wear the braces in the daytime, as braces could interfere with his walking and balance. She also provided ideas to adapt activities for his participation in community events.

    In the coming months, Donald’s physical therapist will help him and his family:

    • Be as independent as possible within the limits of the disease.
    • Engage in activities that maintain strength and minimize muscle weakening.
    • Use an individualized education plan (IEP) to integrate him into school.
    • Adapt his physical education or other school activities as needed to ensure his full integration with his peers.
    • Choose equipment to meet his home, school, and community mobility requirements.
    • Learn about the disease characteristics of Duchenne muscular dystrophy at different ages and the new treatments being developed.
    • Know and use such resources as the Muscular Dystrophy Association or Parent Project Muscular Dystrophy.
    • Promote healthy and fun activities.

    This story was based on a real-life case. Your case may be different. Your physical therapist will tailor a treatment program to your specific case.

     

    What Kind of Physical Therapist Do I Need?

    All physical therapists are prepared through education and experience to treat a variety of conditions or injuries. You may want to consider:

    • A physical therapist who is experienced in pediatrics and muscular dystrophies. Many hospitals dedicated to the care of children will have centers for treating children with neuromuscular disorders, and experienced pediatric physical therapists will be a part of the health professional teams at those hospitals.
    • You may want to work with a physical therapist at the specialty center and a physical therapist who works at a local pediatric practice, and who will work with you and your child in the home, school, or community environments.
    • A physical therapist who is a board-certified pediatric clinical specialist or who has completed a residency or fellowship in pediatric physical therapy. This physical therapist has advanced knowledge, experience, and skills that may apply to neuromuscular disorders, such as muscular dystrophy.
    • Experienced pediatric physical therapists who also understand the importance of working with the other health professionals who are needed to maximize outcomes for people with muscular dystrophy.

    You can find physical therapists who have these and other credentials by using Find a PT, the online tool built by the American Physical Therapy Association to help you search for physical therapists with specific clinical expertise in your geographic area.

    General tips when you're looking for a physical therapist (or any other health care provider):

    • Get recommendations from family and friends or from other health care providers.
    • When you contact a physical therapy clinic for an appointment, ask about the physical therapists' experience in helping children with muscular dystrophy or other neuromuscular disorders.
    • During your first visit with the physical therapist, be prepared to describe your child's symptoms and motor skills in as much detail as possible, and bring any records from other health professionals when possible.
     

    Further Reading

    The American Physical Therapy Association (APTA) believes that consumers should have access to information that could help them make health care decisions and also prepare them for a visit with their health care provider.

    The following articles and resources provide some of the best scientific evidence related to the treatment of muscular dystrophy. The article titles are linked either to a professional organization or to a PubMed* abstract of the article or to free full text, so that you can read it or print out a copy to bring with you to your health care provider.

    National Center on Health, Physical Activity, and Disability (NCHPAD). Duchenne muscular dystrophy: exercise guidelines for persons with DMD. Accessed July 10, 2018.

    Parent Project Muscular Dystrophy. Care guidelines. Accessed July 10, 2018.

    National Institute of Neurological Disorders and Stroke. Muscular dystrophy research. Accessed July 10, 2018.

    Medline Plus, US National Library of Medicine. Duchenne muscular dystrophy. Updated June 4, 2018. Accessed July 10, 2018.

    Muscular Dystrophy Association. World’s leading nonprofit health agency dedicated to finding treatments and cures for muscular dystrophy. Many free resources continually updated. Accessed February 18, 2014.  

    Muscular Dystrophy Association. Duchenne muscular dystrophy. Accessed February 18, 2014.

    Muscular Dystrophy Association. Congenital muscular dystrophy. Accessed September 9, 2013.

    Goyenvalle A, Seto JT, Davies KE, Chamberlain J. Therapeutic approaches to muscular dystrophy. Hum Mol Genet. 2011;20(R1):R69–R78. Free Article.

    Parent Project Muscular Dystrophy. The diagnosis and management of Duchenne muscular dystrophy: an online guide for families. Published January 2010. Accessed July 10, 2018.

    Wang CH, Bonnemann CG, Rutkowski A, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010;25(12):1559–1581. Free Article.  

    *PubMed is a free online resource developed by the National Center for Biotechnology Information (NCBI). PubMed contains millions of citations to biomedical literature, including citations in the National Library of Medicine’s MEDLINE database.

    Reviewed by Kristin Kroschell, PT, DPT. Dr. Krosschell is a board-certified pediatric clinical specialistAuthored by Venita Lovelace-Chandler, PT, PhD. Dr Lovelace-Chandler is a board-certified pediatric clinical specialist. Reviewed by the MoveForwardPT.com editorial board.

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