When your muscles don't function as they should, it's called myopathy. This can result in weakness, pain, or difficulty moving your body.
What is myopathy?
Myopathies are neuromuscular disorders caused by problems in the muscle fibers. Myopathies such as muscular dystrophy can be inherited (passed down through your family’s genes). Other types of myopathies, such as myositis, can show up later in life due to an autoimmune disease, a condition where your immune system attacks healthy tissue. AHN Neurology is here to help you navigate your myopathy and will create a tailored treatment plan that’s designed to help you live a full life.
AHN Neuromuscular Program
AHN's Neuromuscular Program is an integral part of AHN's Department of Neurology and offers comprehensive care for individuals living with conditions affecting the nerves, muscles, and neuromuscular junction.
Our program brings together a team of highly experienced physicians, with more than 30 years’ worth of experience in diagnosing and treating these complex disorders. Our specialists are certified by both the American Board of Clinical Neurophysiology and the American Association of Electrodiagnostic Medicine, ensuring you receive care from nationally recognized experts.
Why choose AHN for your myopathy treatment
The AHN Neuroscience Institute and our team of experts includes physicians with extra training in diagnosing and treating neuromuscular disorders such as myopathy. Our deep experience with these rare conditions helps us offer a precise diagnosis and a personalized treatment plan, specific to your circumstances.
Myopathy symptoms and signs
Your symptoms will depend on the type of myopathy you experience. Common myopathy symptoms often include:
- Muscle cramps, stiffness and spasms.
- Breathing problems.
- Difficulty getting up from a seated position.
- Muscle atrophy and grip weakness.
- Issues swallowing or speaking.
Causes and risk factors
Myopathies can occur because of various factors, ranging from genetic to autoimmune responses and other medical conditions. Understanding the cause is key to developing an effective treatment plan. Some common myopathy causes include:
- Muscular dystrophy: A group of genetic disorders that cause progressive muscle weakness and loss of muscle mass.
- Myositis: Inflammation of the muscles, often caused by an autoimmune condition where the body's immune system mistakenly attacks healthy muscle tissue.
- Cushing's syndrome: A hormonal disorder caused by prolonged exposure to high levels of cortisol, which can lead to muscle weakness.
Some common risk factors include:
- Autoimmune diseases: Conditions like lupus, rheumatoid arthritis, and polymyositis/dermatomyositis can cause inflammation in the muscles leading to myopathy.
- Age: While not a direct cause, the risk of certain myopathies and age-related muscle loss (sarcopenia) increases with age.
- Malnutrition: Deficiencies in certain vitamins and minerals can impair muscle health.
- Toxins: Exposure to certain environmental toxins can damage muscles.
- Electrolyte imbalances: Severe imbalances in potassium, magnesium, or calcium can acutely affect muscle function.
Myopathy screening and diagnosis
At AHN, you have access to the latest diagnostic tests and testing facilities. After a thorough neurological examination, your physician may order one or more of these tests to provide your care team with an accurate diagnosis.
Electrodiagnostics
We apply small electrical impulses along your arm, leg, or face to measure the muscle reaction. This noninvasive test helps our specialists understand how your muscles respond to nerve signals, providing important clues about their function.
Electromyogram (EMG)
This test measures the electrical activity of muscles. During an EMG, a thin needle electrode is inserted into specific muscles to record their electrical signals both at rest and during movement. This helps us detect abnormal muscle activity that can indicate myopathy.
Magnetic resonance imaging (MRI)
This imaging scan produces detailed images of limb muscle, which aids in a proper diagnosis. Physicians may use this test to look for other causes of your symptoms. An MRI uses powerful magnets and radio waves to create cross-sectional images of your muscles and surrounding tissues. This allows our doctors to identify inflammation, fatty changes, or structural abnormalities within the muscles.
Nerve conduction studies
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. Small electrodes are placed on your skin over a nerve, and a mild electrical impulse is delivered to see how quickly and strongly the nerve transmits signals. This helps differentiate between nerve problems and muscle problems.
Blood tests
Blood tests check for abnormal thyroid hormone levels and muscle enzymes. Genetic testing is available from saliva or blood to properly search for myotonic muscular dystrophy, inclusion body myositis, and the more rare neuromuscular conditions. These tests involve drawing a small sample of blood to check for specific markers, such as elevated muscle enzymes (which can indicate muscle damage) or abnormal hormone levels. Genetic blood tests can also identify inherited myopathies by looking for specific gene changes.
Genetic tests
These tests look for certain genetic mutations that can cause inherited myopathies. Genetic tests typically involve a blood or saliva sample. Our specialists analyze your DNA to identify specific genetic changes linked to inherited forms of myopathy, providing a definitive diagnosis and helping to guide treatment.
Muscle biopsy
We remove a tiny piece of muscle for further analysis in a laboratory. During a muscle biopsy, a small tissue sample is carefully taken from an affected muscle, usually under local anesthesia. This sample is then examined under a microscope to identify specific changes or abnormalities within the muscle cells that can confirm a myopathy diagnosis and determine its type.
Types and stages of myopathy
Myopathy encompasses a diverse group of conditions, each with unique characteristics and progression. Understanding the different types of myopathy can help you better understand your diagnosis. Our specialists are experienced in diagnosing and managing a wide range of myopathy types, including:
- Alcoholic myopathy: This condition arises from chronic or acute heavy alcohol consumption. It can lead to sudden, severe muscle pain and weakness (acute alcoholic myopathy) or progressive, long-term muscle weakness and wasting (chronic alcoholic myopathy).
- Necrotizing myopathy: A severe form of myopathy is characterized by rapid and widespread muscle cell death (necrosis). It can be triggered by certain medications (like statins in some cases), autoimmune conditions, or infections, and often requires aggressive treatment.
- Myotubular myopathy: This is a rare, inherited neuromuscular disorder, often present from birth. It affects the development of muscle fibers, leading to significant muscle weakness, particularly in the face, neck, and limbs, and can impact breathing and swallowing.
- Congenital myopathy: Referring to a broad group of rare genetic muscle disorders that are present at birth or develop in early infancy. They cause generalized muscle weakness and may affect muscle structure, often leading to delayed motor milestones. The severity can vary greatly among individuals.
- Muscular myopathy: While muscular myopathy can sometimes be used broadly to refer to any muscle disease, it often points to muscular dystrophy. These are a group of inherited genetic disorders that cause progressive weakness and degeneration of muscle fibers over time, leading to loss of muscle mass and increasing disability.
- Statin myopathy: This condition is a side effect of taking statin medications, which are commonly prescribed to lower cholesterol. Symptoms can range from mild muscle aches and weakness (myalgia) to more severe muscle damage (rhabdomyolysis), though severe cases are rare.
- Centronuclear myopathy: A group of inherited muscle disorders where the nucleus of the muscle cell is abnormally located in the center, rather than the periphery. This structural anomaly leads to muscle weakness, which can vary in onset and severity, sometimes affecting eye movement and breathing.
Myopathy treatment
Our specialists work with you to develop a myopathy treatment plan that addresses your myopathy symptoms. We use a range of medications and rehabilitative therapies, including:
- Medication: Your physician will help determine which medications would most benefit you. Corticosteroids or other immunosuppressants work to reduce the body’s immune response, decreasing inflammation and improving certain symptoms.
- Physical therapy: Certain exercises or activities may strengthen muscles and help you complete daily activities more easily. Our knowledgeable, caring physical therapists customize a physical therapy plan for your needs.
- Occupational therapy: Our specially trained occupational therapists can help you relearn how to complete daily activities that have become difficult, enhancing your independence at home or work.
- Speech therapy: Dedicated speech therapists help you address symptoms that make it difficult to talk or swallow.
- Orthopaedic devices: Devices such as braces support you in everyday movements and help prevent injuries.
Myopathy FAQs
Given the broad nature of myopathies, it’s helpful to have a general understanding of myopathy symptoms and the myopathy treatments available at AHN. Myopathy causes can vary, and the different types of myopathy are vast, so your AHN care team is here to help you find the answers you need to feel more confident in your care plan. To help you get started, we’ve included some of our patients most frequently asked questions about myopathies.
What is myopathy disease?
Myopathy is a general term for a group of neuromuscular disorders characterized by problems within the muscle fibers themselves, leading to muscle weakness, fatigue, and other related symptoms.
What are the symptoms of myopathy?
Common myopathy symptoms include muscle weakness, cramps, stiffness, difficulty performing everyday tasks like walking or lifting, and sometimes problems with breathing or swallowing, depending on the type of myopathy.
What causes myopathies?
Myopathies can arise from various factors, ranging from genetic predispositions to autoimmune responses and other medical conditions. Understanding the cause is key to developing an effective treatment plan. Sometimes the cause is inherited, meaning it's passed down through families, while other times it develops later in life due to different influences.
What are the main types of myopathies?
There are many types of myopathies, but some common categories include inherited myopathies (like muscular dystrophy), inflammatory myopathies (such as myositis), metabolic myopathies, and toxic myopathies (caused by substances like alcohol or certain drugs).
Contact us
To schedule an appointment or learn more about AHN Neuroscience Services, call 412-359-8850. If you are in the Pittsburgh area, and, if you are in the Erie region, please call 814-452-7575.