Muscular dystrophy (MD) refers to a group of genetic diseases that cause progressive muscle weakness and degeneration. As muscle function worsens, MD may affect mobility, the heart, and the muscles that control breathing and swallowing.
UPMC neurology experts provide advanced care for MD, including medications, rehabilitation, and supportive care.
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What Is Muscular Dystrophy (MD)?
Muscular dystrophy (MD) is a group of genetic diseases characterized by progressive muscle weakness and degeneration. As muscle function worsens, MD may affect mobility, the heart, and the muscles that control breathing and swallowing.
What are the types of MD?
There are more than 30 types of MD.
Common types include:
- Becker muscular dystrophy — MD that primarily affects boys and men and is caused by changes in the dystrophin gene that impair muscle function and repair.
- Congenital muscular dystrophy — A group of MD conditions that cause symptoms at birth or before age 2.
- Distal muscular dystrophy — A group of MD conditions that affect the distal muscles of the forearms, hands, lower legs, and feet.
- Duchenne muscular dystrophy (DMD) — The most common childhood form of MD, which primarily affects boys and is caused by changes in the dystrophin gene that impair muscle function and repair. Symptoms of muscle weakness typically begin during the toddler years.
- Emery-Dreifuss muscular dystrophy — Primarily affects boys with symptoms appearing before age mid-20s. Limb contractures are common.
- Facioscapulohumeral muscular dystrophy — Primarily affects the face, shoulders, and upper arms, with symptoms showing up over a wide range between infancy and age 40, and typically progressing slowly.
- Limb-girdle muscular dystrophy — Primarily affects the muscles around the shoulders and hips.
- Myotonic dystrophy — The most common adult form of MD, which causes muscle weakness with symptoms of muscle stiffness and difficulty relaxing muscle contractions. Multiple body systems can be affected.
- Oculopharyngeal muscular dystrophy — Symptoms begin after age 40 with eyelid drooping and difficulty swallowing. Symptoms of leg weakness and difficulty looking up can follow.
How common is MD?
Muscular dystrophy is a relatively rare condition, affecting between 16 and 25 people per 100,000 in the U.S.
What causes MD?
MD is caused by genetic changes that affect the proteins that strengthen and prevent damage to your muscles. In most cases, the gene mutation is passed from a biological parent to the child. However, in rare cases, muscular dystrophy can develop randomly. MD is not infectious or contagious.
MD risk factors
You may be at a higher risk of developing MD if you have a parent or close relative who has an MD-associated gene mutation.
Complications of MD
Complications of MD may include:
- Difficulty breathing.
- Difficulty swallowing.
- Heart problems.
- Intellectual and learning disabilities.
- Scoliosis (curved spine).
How can I prevent MD?
MD is a genetic condition, so there is nothing you can do to prevent it. However, genetic counseling and testing may be able to help you determine whether you have a gene mutation that is linked to MD and the risk of passing it on to your child.
What Are the Signs and Symptoms of MD?
MD symptoms may vary and appear at different times depending on the type you have. However, the primary symptom is muscle weakness that worsens over time.
Other MD symptoms may include:
- Abnormal gait, such as walking on the toes or waddling.
- Fatigue.
- Joints that are too stiff or too loose.
- Muscle loss.
- Muscle pain.
- Muscle tightness and stiffness that doesn’t go away.
- Problems with mobility, such as walking, running, or using stairs.
When should I see a doctor about my MD symptoms?
If you or your child has symptoms of MD, you should schedule an appointment with your doctor as soon as possible. Although there is no cure for MD, getting early treatment can help to preserve independence and reduce the risk of complications.
How Do You Diagnose MD?
To diagnose MD, your doctor will perform physical and neurological examinations and review your symptoms and medical history. Your doctor may also order tests to confirm your diagnosis or rule out other problems.
What to expect during your visit
During your visit, your doctor will:
- Ask you about your symptoms.
- Order tests.
- Perform a physical and neurological exam.
- Review your medical history.
Tests to diagnose MD
Tests to diagnose MD may include:
- Blood and urine tests — High creatine kinase levels in your blood may indicate MD.
- Electromyography (EMG) — Sometimes called an electromyogram, an EMG allows a doctor to record and study the electrical activity of your muscles.
- Genetic testing — Looks for genetic changes that may be linked to inherited conditions.
- Magnetic resonance imaging (MRI) — Creates images of your muscles to look for damaged or abnormal areas.
- Muscle biopsy — Measures changes in muscle that can indicate MD.
- Nerve conduction study (NCS) — Measures the speed of electrical activity passing through your nerves.
- Neurological examination — A noninvasive test to check your muscle strength, reflexes, coordination, sensation, balance, movement, memory, and ability to think.
MD prognosis
Your prognosis after an MD diagnosis depends on the type of MD you have, your symptoms, how your condition progresses, and other factors.
What is the life expectancy of a person with MD?
Your life expectancy after an MD diagnosis depends on the type of MD you have.
How Do You Treat MD?
The goals of MD treatment are to manage symptoms, maintain independence for as long as possible, and preserve quality of life. Treatment may include:
Rehabilitation and mobility support
You may receive various rehabilitation therapies to help you maintain strength, mobility, and independence. Rehabilitation treatment may include:
- Occupational therapy — Teaches techniques and strategies to help you perform everyday activities, such as bathing, dressing, cooking, and grooming, sometimes with the assistance of a cane, brace, walker, or wheelchair.
- Physical therapy — Maintains strength, balance, and mobility using exercises, stretching, massage, electrical stimulation, and other techniques.
- Respiratory therapy — Breathing and coughing exercises may help reduce breathing problems.
- Speech and swallowing therapy — Helps you maintain the ability to swallow, chew, and speak.
Medication
Your doctor may recommend medications to slow muscle degeneration and treat symptoms or complications of MD, such as cardiac issues, infections, and pain.
Surgical care
Your doctor may recommend surgery to treat:
- Abnormal curvature of your spine (scoliosis).
- Eye problems.
- Heart problems.
- Muscle contractures.
Supportive care
Your doctor may prescribe treatments to manage symptoms and complications, including:
- Feeding and hydration support — If the muscles that help you chew and swallow are affected, IV fluids will prevent dehydration, and a nasogastric feeding tube will prevent malnutrition.
- Mental health counseling — Counseling can help you and your loved ones cope with the challenges of an MD diagnosis and manage mental health conditions, such as anxiety and depression.
- Respiratory therapy — If the muscles that control your breathing are affected, your doctor may recommend medications or mechanical ventilation to help you breathe.
Clinical trials
You may be eligible to participate in a clinical trial studying new treatments or diagnostic outcomes for MD. Your doctor will let you know if you qualify for a clinical trial.
Why Choose UPMC for MD Care?
When you choose UPMC for MD care, you will receive:
- Multidisciplinary care — Our team of neurologists will work with you and your loved ones to develop a customized treatment plan that optimizes your quality of life and reduces your risk of complications.
- Access to advanced clinical trials — Our team participates in national, multicenter clinical trials evaluating new treatment options, allowing you to contribute to research advancing care for MD.
- Seamless, ongoing treatment — If you are diagnosed with MD, our team will develop a plan for your ongoing care that reflects your goals, preferences, and wishes.
