Neuromuscular Disorders
Neuromuscular Disorder Care at UVM Health
Neuromuscular disorders affect your neuromuscular system, causing issues with your nerves, muscles and the communication between the two. These conditions can cause a variety of symptoms such as muscle weakness, numbness and occasionally pain.
At University of Vermont Health, we know how a neuromuscular disorder diagnosis can impact you and your family. Caring experts from a multidisciplinary team offer a wide range of personalized treatments, including immunotherapies, genetic therapies, pain control, physical therapy, occupational therapy and other types of supportive care. Our goal is to help you live well and maximize your quality of life.
Why Choose UVM Health?
- Advanced diagnostics and treatments: Innovative tests help your providers diagnose your condition and develop your personalized treatment plan. Our doctors are experts in both traditional and leading-edge neuromuscular disorder therapies.
- Team approach to care: Skilled and caring professionals work together to create and deliver a care plan that's right for you. Our multidisciplinary team includes neurologists, specialized nurses, physical therapists, occupational therapists, speech therapists, respiratory therapists and spiritual care providers.
- Expertise: Our neuromuscular doctors are triple-board-certified, which means they have completed fellowship training in neurology, neuromuscular medicine and electrodiagnostic medicine. Many hold leadership positions in national organizations dedicated to treating neuromuscular disorders.
- Centers of excellence: Our multidisciplinary clinics devoted to amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) and muscular dystrophy are accredited by national organizations. Our programs for myasthenia gravis, peripheral neuropathies and inflammatory myopathies are also nationally accredited.
Types of Neuromuscular Disorders
The causes and symptoms of neuromuscular disorders are diverse. Some neuromuscular diseases are autoimmune disorders in which your body's immune system mistakenly attacks your nerves and muscles. Others are genetic, inherited (passed down in families) or the result of infections or hormone disorders. Many have no known cause.
Our multidisciplinary team cares for people with all types of neuromuscular disorders, including:
Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) causes degeneration of brain, spinal cord, and peripheral nerve cells that control voluntary movement. Your brain and spinal cord can't communicate with your muscles, causing the muscles to atrophy (weaken and shrink from lack of use). As it progresses, ALS affects your ability to move, speak, eat and breathe.
Inflammatory myopathies (inflammatory muscle disease or myositis) usually occur when autoimmune cells mistakenly attack your muscles, and your body sends inflammatory cells to stop this attack. Over time, chronic inflammation causes your muscles to become weak and sometimes hurt.
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder that breaks down communication between nerve cells and muscle cells. People with LEMS can’t contract their muscles normally, and the muscles become weak. LEMS is sometimes associated with small cell lung cancer.
Muscular dystrophy is a group of conditions in which abnormal genes cause the muscles to deteriorate and weaken over time. These genetic mutations are usually inherited but can also occur on their own.
Myasthenia gravis is an autoimmune disorder that weakens muscles under voluntary control. Common symptoms include drooping eyelids, intermittent double vision, arm and leg weakness, shortness of breath, and difficulty chewing and swallowing.
Peripheral neuropathy (neuropathy) is a complex and diverse group of disorders caused by damage to your peripheral nerves (the nerves outside the brain or spinal cord). Peripheral neuropathies can be caused by genetic or acquired conditions, metabolic conditions like diabetes, autoimmune disorders, injury, infection or toxin exposure. Your limbs may feel tingly, numb, weak and painful.
Spinal muscle atrophy (SMA) is a group of diseases affecting the nerves in your spinal cord that control voluntary movement. Similar to ALS, your muscles don’t receive messages to move, so they atrophy. All types of SMA are inherited, unlike ALS, in which only some cases have a known cause.
Diagnosing Neuromuscular Disorders
Many conditions can affect the nerves and muscles, so it’s essential to partner with skilled doctors using the latest diagnostic techniques. Our neurologists take the time to understand your symptoms. They then combine their expertise and advanced technology to accurately diagnose the most complex conditions. Arriving at the correct diagnosis is essential to guide a patient’s treatment plan.
Your neurologist will complete a thorough physical examination and ask about your medical history. Since many neuromuscular diseases are inherited, your doctor will also ask about your family’s medical history.
Your doctor may request that you undergo specific tests. We offer the latest advanced diagnostic procedures, including:
A neurological exam assesses how well your brain communicates with your body. Your doctor checks your muscle function, reflexes, speech and senses.
An EMG evaluates how well your muscles and nerves work. Your provider inserts a tiny needle conducting an electric current into your muscle. As you contract your muscle, a machine records its electrical activity. At UVM Health, we offer single-fiber EMG, a sensitive specialized test for myasthenia gravis.
A nerve conduction study (nerve conduction velocity) evaluates how electrical signals travel through your nerves. We place two electrode patches on your skin over a specific nerve in different places. One electrode sends a mild electrical impulse, and the other records how your nerve responds.
Advanced imaging allows us to take photos and videos of the inside of your body. We use the latest technology, including:
- Computed tomography (CT) scan: X-rays and advanced computers create 3D pictures of parts of your body.
- Magnetic resonance imaging (MRI): Magnets and a specialized computer work together to provide clear, detailed images of your organs.
- Peripheral nerve ultrasound: High-intensity sound waves create detailed, real-time images and videos of your muscle and nerve activity.
- Positron emission tomography (PET) scan: You receive a small and safe amount of radioactive substance (tracer) that collects in areas of high cell activity. The tracer allows us to see brain activity during a CT scan.
Certain substances in your blood or urine can help diagnose neuromuscular disorders or rule out other conditions.
If your doctor suspects you have a small fiber neuropathy (a type of peripheral neuropathy causing burning, painful sensations), they may request autonomic testing. Several noninvasive, pain-free tests check your:
- Sweat output
- Heart rate and blood pressure in response to breathing changes
- Body's response to position changes during a tilt table test
Your doctor may surgically remove a small piece of skin, nerve or muscle to be analyzed in a lab.
Some neuromuscular disorders are inherited (passed down in families). Genetic testing can help inform your treatment options and determine if your family members are at risk for disease.
Your doctor inserts a needle or drain in your spinal canal to remove some cerebrospinal fluid for testing.
Neuromuscular Disorder Treatment
Researchers haven't yet developed cures for most neuromuscular disorders. However, treatments can help improve your symptoms and prevent your condition from worsening. Our experts work with you to create your individualized treatment plan using the latest available medical therapies, including:
Your doctor identifies the defective gene responsible for your neuromuscular disorder and suppresses or replaces it with a functional gene.
Immunomodulators for neuromuscular disorders are drugs that help prevent your immune system from attacking healthy cells.
You receive intravenous (IV) infusions of antibodies that support your immune system and reduce inflammation.
Certain medications can alleviate some neuromuscular disorder symptoms or delay the disease's progression.
Plasma exchange removes your plasma (blood's liquid part that can contain abnormal antibodies) and replaces it with healthy plasma or a plasma substitute.
Our respiratory therapists can provide ventilation devices or show you exercises to help make breathing easier.
Our care team helps you identify equipment that can make it easier to perform daily activities like bathing, eating, dressing, toileting and walking. Supportive devices include shower handles, raised toilet seats, feet or ankle braces, canes and walkers.
Rehabilitation helps improve your strength, mobility and ability to perform daily activities. Services include:
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