Neuromuscular disorders affect the body’s nervous system and muscles, often causing weakness. They can be genetic or occur later in life from other issues.
What are neuromuscular disorders?
Neuromuscular disorders are a range of medical conditions that affect how the nervous system communicates with your muscles. This faulty communication causes muscle breakdown.
Your specific symptoms will depend on which part of the body is affected. Neuromuscular conditions and disorders are either inherited (genetic) or autoimmune (when your immune system attacks healthy tissue). Most are progressive, which means the condition worsens over time and begins to affect more parts of the body.
Getting an accurate and early diagnosis is crucial for treating neuromuscular disease. AHN is here to help. We can determine the treatments to begin sooner that can preserve function, prevent complications, and connect you with supportive resources and clinical trials.
AHN Neuromuscular Program
The AHN Neuroscience team includes leading specialists who have a deep understanding of neuromuscular conditions and disorders and how they impact your life. Our Neuromuscular Program is dedicated to treating neuromuscular diseases and disorders that affect the neuromuscular system.
Our expert staff has decades’ worth of experience in treating these conditions and are certified by both the American Academy of Neurology and American Association of Electrodiagnostic Medicine. This dual certification illustrates the exceptional quality of care and dedication our staff are to performing at the highest standards of practice in clinical neurophysiology and electrodiagnostic medicine.
We combine sophisticated tests with our physicians’ extensive experience to provide a precise diagnosis. We then develop a personalized treatment plan using the latest therapies to help you manage your changing symptoms and challenges over time.
Why choose AHN for your neuromuscular disorder treatment
Patients and families choose AHN for our:
- Neuromuscular expertise: Our neuromuscular specialists are highly regarded nationally for their expertise in diagnosing and treating complex neuromuscular disorders. Our ALS Center is recognized as a Certified Treatment Center of Excellence by the ALS Association and its western Pennsylvania chapter — the first center in western Pennsylvania to earn this designation.
- Dedicated neuromuscular clinics: In these centers, patients with ALS and Myasthenia gravis receive personalized care from specialists who focus on these complex conditions.
- Novel therapies: At AHN, you have access to a range of therapies, including new medications, before they are widely available.
- Focus on neuroscience research: Our specialists are active in ongoing research, studying new ways to improve the lives of patients and families affected by neuromuscular conditions.
- Coordinated care: Navigating health insurance authorization programs can sometimes make it challenging to access promising new neuromuscular disorder treatments. At AHN, dedicated team members help you fast-track that process so you can start benefiting from new therapies sooner.
- Extensive support services: Our mental health specialists help patients and their families develop coping strategies to deal with the emotional challenges of a neuromuscular disorder. We also offer support groups and other resources to help patients experience fewer obstacles in their home life.
Neuromuscular disorders symptoms and signs
Our body’s nerves send messages from our brain to our muscles, telling them when to move. Neuromuscular problems happen when there's an issue with these nerves or the muscles themselves.
This can cause different symptoms, depending on which nerves or muscles are affected and how serious the problem is. Here are some common symptoms and signs associated with neuromuscular disorders:
- Muscle weakness: Your muscles feel weak, making it hard to do everyday tasks like lifting or standing.
- Trouble breathing: It's hard to catch your breath, especially when you're active or lying down.
- Difficulty swallowing: You have trouble eating or drinking because it's difficult to move food or liquid down your throat. This can be dangerous as food might go down the wrong pipe.
- Extreme tiredness (fatigue): You feel incredibly tired all the time, even after resting a lot.
- Problems moving around: You find it difficult to walk, balance, or even do small movements with your hands.
It's important to remember that these symptoms can also be indicative of other conditions. A proper diagnosis requires a thorough medical evaluation by a healthcare professional.
Neuromuscular disorder screening and diagnosis
When doctors suspect a neuromuscular disorder, they generally use several tools to understand what's happening.
Physical exam
First, your doctor will ask you about your health history and do a physical check-up. The doctor will ask about your symptoms and family health, then check your muscle strength, reflexes, balance, and if you can feel touch normally. This first step helps them decide which tests are needed next.
Blood work and nerve studies
Doctors often use tests like blood tests to look for signs of muscle damage, genetic problems, or issues with your body's immune system or vitamin levels. They might also do nerve conduction studies and electromyography (NCS/EMG). These tests use small electrical signals to see how well your nerves send messages and how your muscles respond, which helps tell if the problem is in the nerves, muscles, or where they connect.
Biopsy or MRI scan
Sometimes, to get a clearer picture, doctors might take a tiny piece of muscle or nerve for closer examination (biopsy). They can also use MRI scans to take detailed pictures of your muscles, nerves, brain, or spinal cord. All these steps help specialists, like neurologists, understand your condition.
Types and stages of neuromuscular disorders
AHN’s leading neuroscience experts include board-certified physicians who specialize in diagnosing and treating complex types of neuromuscular disorders, including:
- ALS (Lou Gehrig's disease).
- Charcot-Marie-Tooth disease and other inherited neurological diseases.
- Guillain-Barre syndrome.
- Muscular dystrophy.
- Myasthenia gravis.
- Myopathy.
- Myositis.
- Peripheral neuropathy.
- Spinal muscular atrophy.
There isn't one set path that all neuromuscular disorders follow. Instead, how they change over time depends a lot on the specific condition. Some problems, like certain types of muscle weakness, might slowly get worse over many years. Others can come on suddenly and then get better, or they might come and go, with good days and bad days. Some might even stay mostly the same for a long time.
Your doctors will focus on how much the problem affects your daily life. They might describe neuromuscular disorder symptoms as:
- Mild: The symptoms of the neuromuscular disorder don’t interfere with or prohibit your daily activities, but you may experience increased levels of fatigue.
- Moderate: Your symptoms might mean you need some help or must change how you do things, but with assistance, you can still function with relative ease. You may just need more time to do regular chores or activities, and budget time after to rest and recover.
- Severe: In severe cases, patients often need help with basic activities including bathing, dressing, eating, and transferring from bed to chair. For some neuromuscular disorders, patients need breathing support, wheelchairs, nutritional support and other assistance.
Neuromuscular disorder treatment
While many neuromuscular disorders currently do not have a definitive cure, significant advancements in medical science mean that effective strategies are available to manage symptoms, slow disease progression, and significantly enhance your quality of life.
Our dedicated team of neuromuscular experts collaborates closely with each patient to develop a personalized neuromuscular disorder treatment plan tailored to your specific diagnosis, symptoms, and individual circumstances. We offer a range of innovative treatments, including:
- Oral medications.
- Intravenous infusions.
- Physical or occupational therapy.
At AHN’s dedicated clinics for patients with ALS and myasthenia gravis, our providers coordinate multiple aspects of your care at one time.
Neuromuscular disorders FAQs
Understanding a neuromuscular disorder can bring many questions. Here, we address some of the most frequently asked questions to help you start future conversations with your care team, who can expand on your specific treatments and care plan.
What is a neuromuscular disorder?
A neuromuscular disorder is a medical condition that affects the communication between your nervous system and your muscles, leading to problems with muscle function. This can occur due to damage or dysfunction in the motor neurons (nerve cells in the brain and spinal cord), the peripheral nerves (nerves outside the brain and spinal cord), the neuromuscular junction (where nerves connect to muscles), or the muscles themselves. The result is often muscle weakness, atrophy, pain, or difficulties with movement, coordination, and other bodily functions.
What are the most common neuromuscular disorders?
There are many types of neuromuscular disorders, each with unique characteristics. Some of the more frequently encountered conditions include:
- Peripheral neuropathy: Damage to nerves outside the brain and spinal cord, leading to numbness, tingling, pain, and weakness, often in the hands and feet.
- Muscular dystrophies: A group of genetic disorders causing progressive muscle weakness and loss of muscle mass over time, such as Duchenne or Becker muscular dystrophy.
- Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease: A rapidly progressive disease affecting the nerve cells in the brain and spinal cord that control voluntary muscle movement.
- Myasthenia gravis: An autoimmune disorder where the immune system attacks the neuromuscular junction, causing fluctuating muscle weakness that worsens with activity and improves with rest.
- Charcot-Marie-Tooth Disease (CMT): An inherited neurological disorder affecting the peripheral nerves, leading to muscle weakness and sensory loss, particularly in the lower legs, feet, and hands.
Are neuromuscular disorders curable?
Currently, many neuromuscular disorders do not have a cure. However, this does not mean they are untreatable. Significant advancements in medical research have led to a wide array of effective therapies that can manage symptoms, slow disease progression, improve muscle function, and greatly enhance a patient's quality of life. Treatment plans are highly individualized and may include:
- Medications
- Rehabilitation therapies (physical, occupational, speech, and respiratory)
- Nutritional support
- Assistive devices
Ongoing research continues to bring new diagnostic tools and therapeutic options, offering hope for future breakthroughs.
Contact us
To schedule an appointment or learn more about AHN neuroscience services, call 412-359-8850.
If you're an existing patient, you can also call 412-362-8677 in Pittsburgh or 814-452-7575 for Erie. You can also make an appointment with AHN Neuroscience Services.