Muscular Dystrophy Association Clinic
At CHOC, we have the only pediatric program in Orange County designated by the Muscular Dystrophy Association to help families understand and manage muscle disease. That means in addition to an entire team of CHOC specialists who care for your child, we also partner with the MDA to offer access to national research and community support.
The MDA recognizes more than 90 muscle diseases, many of which may present during childhood. The symptoms can be confusing and sometimes a diagnosis is difficult to make. Our specialists designate regular clinic time to spend with new patients who are looking for a diagnosis. We can exhaust every resource, including genetic testing, muscle biopsies, nerve conduction studies and electromyography.
What We Treat
We treat myopathies and neuropathies such as:
- Muscular dystrophy
- Spinal muscular atrophy
- Charcot-Marie-Tooth Disease
- Dejerine-Sottas disease
- Friedreich’s ataxia
- Myasthenia gravis
Coordination of Care
Our program is led by CHOC orthopaedic surgeon Dr. Samuel Rosenfeld and CHOC neurologists Dr. Sharon Kim and Dr. Amanda Fernandez, who are specially skilled in caring for children with muscle conditions. Muscle disease can also lead to other health issues, such as breathing and heart problems. After your child has been diagnosed, we’ll develop a treatment plan and connect you with additional specialists as needed, including:
- Pain specialists
- Physical therapists
- Occupational therapists
We can also connect you with social services, financial coordinators, equipment for home care and community resources.
Partnering with a Leader
The Muscular Dystrophy Association is known as the leading nonprofit organization dedicated to finding treatments and cures for muscular dystrophy and other neuromuscular diseases. We are proud to be affiliated with the MDA so that we can commit to a shared mission. Because an MDA liaison attends appointments with CHOC patients regularly, your family will have access to support programs and the latest research being led by the organization. Learn more about the MDA.
Frequently Asked Questions About Muscular Dystrophy
Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue. Sometimes, there is also the breakdown of nerve tissue. There are nine types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability and possible deformity. Other health problems commonly associated with muscular dystrophy include heart problems, scoliosis and obesity.
- Clumsy movement
- Difficulty climbing stairs
- Frequently trips and falls
- Unable to jump or hop normally
- Tip toe walking
- Leg pain
- Facial weakness
- Inability to close eyes or whistle
- Shoulder and arm weakness
In addition, children with muscular dystrophy often have very large calves due to the large amounts of fatty deposits that are replacing muscle.
- Blood tests. These will check muscle enzyme levels and genetic abnormalities.
- Muscle biopsy. This is the primary test used to confirm diagnosis. A small sample of muscle tissue is taken and examined under a microscope.
- Electromyogram (EMG). This test is used to check if the muscle weakness is a result of destruction of muscle tissue rather than nerve damage.
- Electrocardiogram (EKG). This test records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias) and detects heart muscle damage.
Management of muscular dystrophy is either nonsurgical or surgical. Nonsurgical interventions may include:
- Physical therapy.
- Positioning aids used to help the child sit, lie or stand.
- Braces and splints used to prevent deformity, promote support or provide protection.
- Medications, including steroids.
- Nutritional counseling.
- Psychological counseling.
- Scoliosis (a sideways curvature of the back bones)
- Maintaining the child’s ability to sit or stand.
Our interdisciplinary team will work with your family to improve your child’s function and to provide support as you learn to care for your child’s needs. The Muscular Dystrophy Association can be an important resource, both financially and emotionally, for parents of children with muscular dystrophy. Learn more about the MDA.