What is Muscular Dystrophy

What is Muscular Dystrophy?


Muscular dystrophy (MD) is a group of genetic disorders that cause the muscles to weaken on break down over time. The primary cause of muscular dystrophy is missing or inaccurate genetic information that prevents the body from producing the proteins needed to sustain muscle.


Because muscular dystrophy is a family of disorders, each case is different in the types of muscles impacted, the extent of muscle weakness, when symptoms begin, and how fast muscles deteriorate. A child diagnosed with muscular dystrophy may gradually lose the ability to walk, sit upright, move limbs or extremities, and breath without assistance. Weak muscles can also lead to other health or organ problems. Some children with muscular dystrophy show symptoms in infancy while others do not appear affected until adulthood.


Currently, there is no cure for muscular dystrophy. However, researchers are actively studying how to treat and prevent. In addition, advances in physical therapy and medical interventions designed to improve joint and muscle function may both help people with MD live as comfortably as possible.


What are the Major Types of Muscular Dystrophy?


Muscular dystrophy is a family of disorders. The most common types include the following:

  • Duchenne muscular dystrophy(DMD) – This severe branch of muscular dystrophy typically begins to impact children around age four. It causes muscle loss in the pelvic and thigh areas that results in trouble standing up. This type of MD is most common among boys; however, girls can also experience milder symptoms.
  • Becker muscular dystrophy – This is a “less severe” version of muscular dystrophy that also causes loss of muscle in the pelvis and thighs. Individuals with this form of MD may have difficulty walking by their teens and need to use a wheelchair during their 20s.
  • Myotonic dystrophy (Steinert’s disease) – An adult form of MD for which individuals may receive a diagnosis during childhood or adolescence. It can cause painful myotonia (a condition in which muscle have difficulty relaxing after they contract), muscle shrinking, and muscular deterioration.
  • Limb-girdle muscular dystrophy – A type of MD that tends to affect boys and girls equally. Symptoms start gradually in childhood and affect pelvic muscles, shoulders, and back. Overall impact can vary widely – some children have only mild weaknesses (e.g. that impact ability to do sports) while others may have more serious weaknesses and require a wheelchair by adulthood.
  • Facioscapulohumeral muscular dystrophy– This is another form of MD that can impact boys and girls equally. Muscle deterioration begins among the facio (facial) muscles, making it hard to shut the eyes, pucker lips, or puff out cheeks. Children tend to have trouble lifting objects due to weakened back and shoulder muscles, and pelvic area muscles also weaken with time.



What are the Initial Symptoms of Muscular Dystrophy?

Since muscular dystrophy is a degenerative disorder (gradually worsening into irreversible ailments), it is understandable that parents wish to recognize symptoms as quickly as possible. The first symptoms of muscular dystrophy manifest as trouble with movement, typically following the first few years of life. Parents should contact a physician upon noticing that a child has begun to stumble or waddle, “toe walk” (gait is always on toes with the heels never touching the ground), or has trouble pulling into a sitting position. Children with MD often quickly lose the ability to climb stairs or use a tricycle as well.

What is the Treatment for Muscular Dystrophy?

There is currently no cure for muscular dystrophy. However, a combination of physical therapy, braces, and possible corrective surgery may help your child live as comfortable as possible.

Upon receiving a diagnosis of muscular dystrophy, you should meet with a group of medical specialists that may include an orthopedist, neurologist, occupational therapist, and physical therapist. By enrolling in special needs services, you might also receive access to a social worker and registered dietician. These professionals can formulate a custom plan and support system to help your child adjust and reduce the impact of symptoms as much as possible.

For example, your child’s treatment plan may include the following:

  • Physical therapy to improve flexibility, prevent joint contractures, and sustain fine motor skills as much as possible
  • Occupational therapy to increase gross motor skills as much as possible
  • Orthopedic braces
  • Wheelchairs or scooters to increase mobility
  • Ventilator for assistance breathing (especially for instances of weakened respiratory muscles)

With the advance of modern technology, a child with MD may also receive access to robotics and other assistive devices to help with everyday tasks.

In the majority of cases, children with MD benefit from intervention and therapy sooner rather than later. Contact The Warren Center for more information about early childhood intervention (ECI) programs and therapy for children with muscular dystrophy.