Muscular dystrophy is a genetic condition where faulty genes cause muscles to weaken over time. It's not contagious and often runs in families.
What is muscular dystrophy?
Muscular dystrophy (MD) is a neuromuscular disorder that causes progressive (worsening) muscle weakness. There are different types, but with all forms of MD, abnormal genes interfere with the production of proteins needed to form healthy muscle. Over time, this leads to the decline and weakening of muscles. While a cure isn't available yet, research is ongoing and new therapies are emerging that can significantly improve quality of life and slow progression.
The prognosis for muscular dystrophy varies depending on the specific type and the patient’s overall health. Some can progress rapidly, while others have a slower progression and allow for a relatively normal lifespan. AHN is here to support and provide you with advanced treatment options tailored to you while also focusing on your mental, emotional, and social needs.
AHN Neuromuscular Program
The AHN Neuromuscular Program provides specialized care for conditions affecting nerves and muscles, like muscular dystrophy. We offer expert diagnosis, personalized muscular dystrophy treatment plans, and comprehensive support from a team of specialists to help patients improve their quality of life.
Why choose AHN for your muscular dystrophy care
At AHN, we provide expert diagnosis and treatment services for muscular dystrophy types. Our multidisciplinary team of specialists in neuromuscular care provides the full spectrum of services, including:
- Genetic counseling.
- The latest therapies.
- Rehabilitative care.
Our goal is to help you improve your functional abilities and manage your muscular dystrophy symptoms over time.
Muscular dystrophy symptoms and signs
In some cases, early signs of muscular dystrophy can appear in infancy or childhood. Other times, muscular dystrophy doesn’t appear until middle age. The different types and severity can impact symptoms. Common symptoms that can appear in all types include:
- A curved spine.
- An enlarged heart.
- Trouble breathing or swallowing.
- Legs or arms turning inward or abnormally large calves.
- Muscle weakness that worsens over time.
- Difficulty moving or repeated falls.
Muscular dystrophy causes and risk factors
The core cause of all MD types is a specific error or a change (mutation) in a gene. When functioning as they should, genes normally tell your body how to make important proteins that your muscles need to be strong and work properly. When there's a change in these instructions, the muscle proteins either aren't made correctly or aren't made at all. This leads to muscles gradually weakening and wasting away over time.
Often, these faulty genes are passed down through families from parents to children. The way they are passed down can vary. Sometimes, different types of muscular dystrophy, like Duchenne and Becker MD, are linked to the X chromosome, making it more common and severe in boys. Girls can be carriers but often don't get sick or they experience much milder symptoms. And sometimes, only one faulty gene from a parent is enough to cause the disease.
Muscular dystrophy screening and diagnosis
A complete neurological examination is the first step to an accurate diagnosis. Your physician will also talk to you about your symptoms and your medical and family history. At AHN, you have access to the latest diagnostic tests. Your physician may order one or more of these tests to provide a precise diagnosis.
Electromyogram (EMG)
This test measures the electrical activity of muscles. For muscular dystrophy, an EMG helps our specialists assess the health of your muscle fibers and identify patterns of electrical activity characteristic of muscle disease rather than nerve problems. During the test, a thin needle electrode is gently inserted into specific muscles to record their signals.
Nerve conduction studies (NCS)
A nerve conduction velocity test measures the nerves’ ability to send electrical signals. We often perform it along with an EMG to help determine whether symptoms are related to your nerves or muscles. In the context of muscular dystrophy, NCS helps confirm that the nerves are functioning correctly, thereby directing the diagnostic focus toward the muscles themselves. Small electrodes are placed on your skin, delivering mild electrical impulses.
Blood tests
A simple blood draw can reveal elevated levels of creatine kinase (CK), an enzyme that leaks into the bloodstream when muscles are damaged. Significantly high CK levels are a common indicator often seen in muscular dystrophy. Other blood tests can also check for specific proteins or antibodies related to different types of muscle conditions.
Genetic tests
These tests look for certain genetic mutations that can cause muscular dystrophy. Genetic testing is often crucial for diagnosing muscular dystrophy. By analyzing a blood or saliva sample, we can identify specific genetic mutations known to cause various forms of muscular dystrophy, providing a definitive diagnosis and helping to determine the exact type. This precise identification is vital for understanding disease progression and potential treatments.
Muscle biopsy: A physician removes a tiny piece of muscle for further analysis in a laboratory.
When other tests aren't conclusive, a muscle biopsy can be performed. A small sample of muscle tissue, usually taken under local anesthesia, is examined under a microscope. This allows our pathologists to identify characteristic changes in muscle fiber structure or the presence/absence of certain proteins that are indicative of specific types of muscular dystrophy.
Types and stages of muscular dystrophy
Muscular dystrophy (MD) doesn't have stages like some other illnesses. Instead, it's a condition that usually gets gradually worse over time, meaning muscles continue to weaken. How fast this happens and which muscles are affected depends a lot on the specific type of MD. There are over 30 different genetic disorders classified as muscular dystrophies, but there are certain types that are more common. Your AHN care team is experienced in treating the various types and are here to provide a comprehensive treatment plan that will best serve your specific type of muscular dystrophy.
Duchenne muscular dystrophy (DMD)
This is the most common and usually the most severe type of MD. It primarily affects boys, with symptoms typically appearing between ages 2 and 3. It causes rapid muscle weakness, starting in the legs and pelvis, then spreading to the arms, chest, and heart. Children often lose the ability to walk by their early teens.
Becker muscular dystrophy (BMD)
BMD is similar to Duchenne, but generally less severe and progresses more slowly. It also primarily affects boys. BMD symptoms usually begin later, often in late childhood or adolescence. Muscle weakness progresses more slowly, and patients typically remain able to walk into adulthood. However, heart conditions can still be an issue.
Myotonic dystrophy (DM)
This is the most common muscular dystrophy type for adults. It affects both men and women and can begin at any age, from birth to adulthood. Characterized by "myotonia" (difficulty relaxing muscles after contraction, e.g., difficulty letting go after a handshake). It also causes progressive muscle weakness, often starting in the:
- Face.
- Neck.
- Hands.
- Feet.
Beyond muscles, it can affect many other body systems, including the heart, brain, eyes, and endocrine system.
Muscular dystrophy treatment
While there still isn’t a cure for muscular dystrophy, our dedicated specialists work with you to develop a treatment plan that improves your MD symptoms and meets your changing needs over time. This approach provides a high level of personalized care.
We treat muscular dystrophy using a range of medications and rehabilitative therapies. Your treatment plan will be personalized to your needs. Care plans often include:
- Medication: Your physician will help determine which medications would most benefit you. Certain medications, such as prednisone, can provide short-term relief for muscle weakness. Medication may also help slow muscle damage and support respiratory function.
- Physical therapy: Certain exercises or activities may strengthen muscles. Physical therapy can help you move and complete daily activities more easily. Our knowledgeable, caring physical therapists customize a plan to your needs.
- Speech or occupational therapy: Our specially trained speech and occupational therapists can help you relearn how to complete daily activities that have become difficult.
- Orthopedic devices: Devices such as braces support you in everyday movements and help prevent injuries.
Muscular dystrophy FAQs
Understanding muscular dystrophy and the various types might feel overwhelming. AHN is here to be your guide and provide you with the necessary resources to help you feel more confident in your care plan. Our patients often have frequently asked questions, and while your care team is available to answer all your questions, these answers might help you get started.
How common is muscular dystrophy?
Overall, muscular dystrophy is rare. The Centers for Disease Control and Prevention estimates that it occurs in one of every 3,000 to 5,000 live births in the U.S. The rates of incidence differ based on the type of the disease:
- Duchenne muscular dystrophy (DMD): This is the most common and most severe form, affecting about 1 in 3,500 to 5,000 live male births. It is much rarer in females.
- Becker muscular dystrophy (BMD): This is a milder form related to DMD and affects about 1 in 18,000 to 30,000 live male births.
How does muscular dystrophy affect the body?
Muscular dystrophy (MD) is a group of genetic diseases that cause progressive weakness and loss of muscle mass. Muscular dystrophy symptoms can vary depending on the type of MD, but generally, it involves:
- Muscle weakness and degeneration: This is the hallmark symptom. Over time, muscle fibers are damaged and replaced by fibrous tissue or fat, leading to a loss of strength and muscle bulk. This can affect voluntary muscles used for movement, and, in some types, even involuntary muscle movements, like those of the heart.
- Mobility impairment: As muscles weaken, individuals may experience difficulty with walking, running, jumping, and eventually, even standing. They might need assistive devices like braces, walkers, or wheelchairs.
- Respiratory problems: Weakness in the diaphragm and other respiratory muscles can lead to breathing difficulties, especially during sleep. This may require ventilatory support.
- Cardiac issues: Some types of muscular dystrophy, particularly Duchenne muscular dystrophy and Becker muscular dystrophy, can affect the heart muscle (cardiomyopathy), leading to heart failure or arrhythmias.
- Skeletal deformities: Muscle weakness can lead to problems with posture and the development of conditions like scoliosis (curvature of the spine) or contractures (shortening of muscles and tendons around joints), limiting range of motion.
- Dysphagia (swallowing difficulties): In some cases, the muscles involved in swallowing can be affected, leading to problems with eating and an increased risk of aspiration.
- Cognitive impairment: While not all types of MD affect cognitive function, some, like Duchenne muscular dystrophy, can be associated with learning difficulties or intellectual disabilities.
- Fatigue: The effort required to perform daily activities with weakened muscles can lead to significant fatigue.
The progression and severity of these effects depend on the specific type of muscular dystrophy, the age of onset, and individual factors.
What eventually happens to people with muscular dystrophy?
What eventually happens to people with muscular dystrophy is highly dependent on the specific type of MD, its severity, and the age of onset. However, in general terms, the progressive nature of the disease often leads to:
- Significant mobility limitations: As muscle weakness progresses, individuals typically lose the ability to walk independently. This often leads to reliance on wheelchairs for mobility. The age at which this occurs varies greatly by MD type. For example, in Duchenne MD, it's usually in early adolescence, while in some other forms, it might not happen until much later in life or not at all.
- Respiratory failure: Weakening of the diaphragm and other muscles responsible for breathing is a major concern in many types of MD. This can lead to chronic respiratory insufficiency, especially during sleep, and eventually to respiratory failure. Many individuals will require noninvasive ventilation (like BiPAP) or, in advanced stages, a tracheostomy and mechanical ventilation to support breathing.
- Cardiac complications: Heart muscle involvement (cardiomyopathy) is a common and serious complication in several forms of MD. This can lead to heart failure, arrhythmias, and sudden cardiac death. Regular cardiac monitoring and management are crucial.
- Swallowing difficulties (dysphagia) and nutritional deficiencies: As the muscles involved in chewing and swallowing weaken, individuals may experience dysphagia. This can lead to choking, aspiration pneumonia, and difficulty maintaining adequate nutrition, sometimes requiring feeding tubes.
- Increased susceptibility to infections: Due to reduced mobility and respiratory weakness, individuals with MD are often more prone to respiratory infections like pneumonia, which can be life-threatening.
- Skeletal deformities and joint contractures: Prolonged muscle weakness and immobility can result in severe scoliosis (curvature of the spine), which can further compromise lung function. Joint contractures (fixed tightening of muscles and tendons) can also develop, leading to reduced range of motion and pain.
- Impact on daily living and independence: The progressive nature of MD significantly impacts a person's ability to perform activities of daily living (ADLs) such as dressing, bathing, and eating, often requiring increasing levels of assistance.
While muscular dystrophy is a progressive condition, advances in medical care — including physical therapy, respiratory support, cardiac management, and genetic therapies for some types — have significantly improved the quality of life and extended the lifespan for many individuals. The focus of care is often on managing symptoms, preventing complications, and maintaining function for as long as possible.
Can you cure muscular dystrophy?
Unfortunately, at this time, there is no known cure for muscular dystrophy. However, that doesn't mean there's no hope or effective treatment. Research is continuously advancing, and there have been significant breakthroughs in managing the disease and even slowing its progression for certain types. AHN stays at the forefront of emerging muscular dystrophy treatment.
What's the life expectancy of someone with muscular dystrophy?
Life expectancy with muscular dystrophy varies depending on several crucial factors:
- Type of muscular dystrophy: This is the most significant factor. There are many different types, and their progression and severity differ greatly.
- Age of onset: Generally, types that appear earlier in life tend to be more severe and progress faster.
- Severity of symptoms: Even within the same type, there can be a range of severity.
- Quality of medical care and management: Aggressive and comprehensive medical management — including respiratory support, cardiac care, and physical therapy — has dramatically improved life expectancy for many individuals.
Generally, most people live into their 50s and 60s, and your AHN care team will be able to help you understand your specific prognosis.
Contact us
To schedule an appointment or learn more about AHN neuroscience services, call 412-359-8850 for the Pittsburgh region and call 814-452-7575 for Erie.