What Is Neuromuscular Disease?
Neuromuscular disorders are conditions that affect the nerves, muscles, and muscle-nerve connections that control muscle function and sensation. Neuromuscular diseases may cause weakness, loss of muscle mass, and abnormal sensations.
What Neuromuscular Conditions Do We Treat?
UPMC specializes in the diagnosis, treatment, and research of neuromuscular diseases, including:
- Amyotrophic lateral sclerosis (ALS) — Also known as Lou Gehrig’s disease, ALS is a rare, terminal neurodegenerative disease that affects nerve cells in the spinal cord and brain.
- Myasthenia gravis — A chronic autoimmune disease that causes muscle weakness and fatigue. Symptoms include double vision, droopy eye lids, trouble speaking and swallowing, and limb weakness.
- Muscular dystrophy — A group of genetic diseases that cause progressive muscle weakness.
- Motor neuron disease — Refers to a group of progressive neurological disorders that cause damage to your motor neurons, a type of nerve cell that controls muscle movement. ALS is the most common type of motor neuron disease.
- Neuropathy — Occurs when the peripheral nerves outside your brain and spinal cord do not function properly. We mainly treat polyneuropathies that involve many nerves at the same time.
- Myopathy — A condition that occurs when your muscles are not functioning properly due to inflammatory, toxic-metabolic, or genetic disorders.
Who’s Eligible for Neuromuscular Disease Services?
You may be eligible for neuromuscular disease services if you have symptoms of or have been diagnosed with a neuromuscular disorder.
What Neuromuscular Disorder Services Do We Offer?
We offer a full range of neuromuscular disorder services, including:
Diagnostic services for neuromuscular disorders
Your doctor may order tests to help diagnose neuromuscular disorders, including:
- Blood tests — Often performed to check muscle enzymes and to look for other conditions associated with neuromuscular disorders.
- Nerve conduction study/electromyogram (EMG) — Uses electrical impulses to test how well your muscles are working.
- Breathing tests — Determine how well your muscles that control breathing are working.
- Genetic testing — Looks for inherited neuromuscular disorders such as muscular dystrophies and some forms of ALS and polyneuropathy.
- Magnetic resonance imaging (MRI) — Creates images of your brain and spine to look for damaged or abnormal areas.
- Swallowing studies — Determine how well the muscles involved in swallowing are working.
Neuromuscular disorder treatment
Treatment options for neuromuscular disorders may include:
Medical services
Medical services for people with neuromuscular disorders include:
- Medications — Depending on the particular neuromuscular disorder, they may alleviate symptoms, reverse the course, or slow the progression of the disease.
- Nutritional therapy — Helps people with neuromuscular disorders maintain weight through healthy eating and diet management when swallowing or chewing difficulties develop.
- Respiratory therapy — Teaches breathing exercises and provides equipment to help people with neuromuscular disorders breathe easier and sleep better.
Rehabilitative services
Rehabilitative services for people with neuromuscular disorders include:
- Occupational therapy (OT) — Uses appropriate exercises and durable medical equipment to perform activities of daily living and promote functional independence.
- Physical therapy (PT) — Helps manage physical disabilities and improve mobility through appropriate exercises and assistive devices to improve safety and maximize independence.
- Speech therapy — Helps improve communication during neuromuscular disorder progression using assistive technology, including eye gaze-controlled communication devices.
- Swallowing therapy — Evaluates for swallowing difficulties that would affect nutritional status and breathing and helps with swallowing techniques and diet modifications to maintain safe and efficient swallowing.
Supportive services
Supportive services for people with neuromuscular disorders include:
- Coordination with durable medical equipment companies — Helps to manage assistive devices, such as power chairs, hospital beds, braces, and respiratory equipment.
- Coordination with home care agencies — Helps arrange for in-home health services, such as nursing care and PT/OT.
- Psychological support — Helps people cope with feelings of fear, grief, and frustration.
- Social work support — Helps people find financial help, access equipment, get help with meals at home, and more.
Clinical trials for neuromuscular disorders
Neuromuscular disorders can be devastating for patients and their families. Through clinical trials, researchers hope to find a treatment that can add years of quality to people's lives and, one day, stop neuromuscular diseases completely.
What Can I Expect?
You will receive neuromuscular disease care by a subspecialist. Depending on the condition, you may be seen at a multidisciplinary clinic, such as our ALS clinic, designed for people who require treatment from many specialists, including neurologists, nurses, physical therapists, occupational therapists, respiratory therapists, social workers, and dietitians.
Our specialists work together to coordinate care and to develop the best treatment plan for each patient. In addition, the clinic offers opportunities to participate in research, including clinical trials for drug therapy.
Why Choose UPMC for Neuromuscular Disease Services?
When you choose UPMC for neuromuscular disease care, you will receive:
- ALS Association-certified care — We are an ALS Association (ALSA) Certified Treatment Center of Excellence and one of only four treatment centers in Pennsylvania with this accreditation. Certification is earned by meeting the rigorous best practice standards set by the ALS Association Treatment Centers of Excellence Program®.
- MDA Care Center - We are a certified treatment center for muscular dystrophies, other muscle diseases, and myasthenia gravis.
- Access to clinical and research innovations — We have received the MDA-ALS Center designation from the Muscular Dystrophy Association in recognition of excellence in clinical and research services. We have the only such center in western Pennsylvania. We also participate in national and international clinical trials, bringing promising therapies to our patient's years before they become available at other centers.
- Multidisciplinary care from a team of experts — Our multidisciplinary team includes neurologists, nurses, physical therapists, occupational therapists, respiratory therapists, social workers, clinical psychologists, speech and swallowing therapists, and dieticians.
