How are Neuromuscular Disorders Diagnosed?

Diagnosis

It may be challenging to diagnose neuromuscular disorders because the symptoms resemble those of other diseases. It is important to do a full work-up to determine the cause of your symptoms.

We use a variety of tests to make an accurate neuromuscular disorder diagnosis, including:

  • Physical and neurological examinations.
  • Electrodiagnostic tests to evaluate your muscle and nerve function, including electromyography (which measures the electrical activity in muscles) and nerve conduction studies (which measure how well signals travel through nerves).
  • Sometimes a skin, nerve, or muscle biopsy is performed to measure the number of pain- and temperature-sensitive or autonomic nerve fibers, with expert interpretation of the test results by one of our skilled neuropathologists.
  • Spinal tap (lumbar puncture), the withdrawal of a small amount of cerebrospinal fluid (which surrounds your brain and spinal cord) to examine it for proteins, blood cells, and other substances.
  • Imaging tests, such as X-rays and magnetic resonance imaging (MRI) to rule out other possible causes of symptoms.

How are Neuromuscular Disorders Treated?

Treatment

While some neuromuscular disorders cannot be cured, we can control and relieve symptoms to improve your quality of life. Depending on your disease, your treatment may include one or more of the following treatments.

Medical therapies

We treat some neuromuscular disorders with medications or other treatments that reduce symptoms or slow the progression of the disease, such as:

  • Riluzole (Rilutek®) and Edaravone (Radicava® and Radicava ORS®) for people with ALS.
  • Medications to relieve muscle cramps, stiffness, and excess saliva.
  • Plasmapheresis, in which we filter abnormal antibodies from the blood, to treat Guillain-Barré syndrome and myasthenia gravis.
  • Immunoglobulin therapy (IVIg), which involves infusions of immune proteins from healthy donors, to treat Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, inflammatory myopathies, and myasthenia gravis.
  • Medications (such as neostigmine and pyridostigmine) to improve the transmission of nerve impulses and increase muscle strength in people with myasthenia gravis.
  • Drugs that suppress the immune system (such as prednisone, mycophenolate mofetil, and azathioprine) to treat myasthenia gravis.
  • Drugs to relieve pain and muscle weakness in people with myopathy or neuropathy.

Surgical treatments

Surgery may be an option for neuromuscular disorders such as myasthenia gravis and neuropathy.

  • Robotic surgery for myasthenia gravis. Our thoracic surgeons are experts in performing innovative surgery for myasthenia gravis, using robotic surgery to remove the thymus. Symptoms improve in as many as 70 percent of people, many of whom are cured. These improvements may occur months to years after surgery.
  • Minimally invasive surgery for neuropathy. If you have neuropathy caused by pressure on a nerve, our surgeons can sometimes offer a procedure to alleviate that pressure. Our neurosurgeons are highly skilled at performing such nerve decompression procedures.

Clinical trials

Researchers at Columbia University and Weill Cornell Medicine are working in the clinic and the laboratory to learn more about what causes neuromuscular disorders and to develop better treatments. Our research programs are among the most robust in the world. You may have the opportunity to participate in a clinical trial of innovative therapy. Search for current clinical trials.

Rehabilitation

People with neuromuscular disorders may become very weak. Physical and occupational therapy are important to help you regain or maintain your ability to perform daily activities.

Our rehabilitation specialists work with you to:

  • Evaluate your muscle strength and motor skills.
  • Develop an individualized program to maintain or improve your motor function.
  • Recommend devices (such as neck supports, canes, walkers, and wheelchairs) and equipment for your home to ensure your safety and mobility.
  • Discuss ways to modify your activities, conserve your energy, and simplify your work.
Get Care

Trust NewYork-Presbyterian for Neuromuscular Disorder Treatment

The care of people with neuromuscular disorders is complex and may require the input of many specialists with experience caring for these patients.

At NewYork-Presbyterian, you can find all the care through need through one medical center. From neurologists and neurosurgeons to pain medicine experts, nurse practitioners, registered dietitians, social workers, rehabilitation professionals, and others, your entire team is dedicated to relieving your symptoms and improving your quality of life.

Make an appointment today.