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Neuromuscular disorders

What is a Neuromuscular disorders?

Neuromuscular disorders is a general term that encompasses a large number of diseases with different presentations. The terms ‘muscle disease’, ‘myopathy’, ‘neuromuscular conditions’ and ‘neuromuscular disorders’ all describe a group of conditions which affect either the muscles, those in the arms and legs or heart and lungs, or the nerves which control the muscles.

  • There are lots of different types of muscle disease. The severity of conditions and how they affect individuals varies from person to person.
  • Most conditions are progressive, causing the muscles to gradually weaken over time. People’s mobility is affected and may lead to some sort of disability.
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Symptoms

There are many neuromuscular disorders, and treatment by an experienced multidisciplinary team, such as the one at Cedars-Sinai’s Neuromuscular Disorders Program, is vital.

These disorders result in muscle weakness and fatigue that progress over time. Some neuromuscular disorders have symptoms that begin in infancy, while others may appear in childhood or even adulthood. Symptoms will depend on the type of neuromuscular disorder and the areas of the body that are affected.

Some symptoms common to neuromuscular disorders include:

  • Muscle weakness that can lead to twitching, cramps, aches and pains
  • Muscle loss
  • Movement issues
  • Balance problems
  • Numbness, tingling or painful sensations
  • Droopy eyelids
  • Double vision
  • Trouble swallowing
  • Trouble breathing

Diagnosis

A physician will examine the patient and take a medical and family history. Checking a patient’s reflexes and muscle strength, as well as evaluating other symptoms, may lead a physician to order other diagnostic tests, including:

  • Blood test to check for elevated enzymes
  • Magnetic resonance imaging (MRI) scan of the brain and spinal cord
  • Lumbar puncture (spinal tap) to check cerebrospinal fluid
  • Electromyography (EMG) to record the electrical activity of each muscle
  • Nerve conduction studies to see how well signals travel from nerve to muscle
  • Muscle biopsy to examine a sample of muscle tissue under a microscope
  • Genetic testing to confirm gene mutations

Treatment

Currently there is no cure for neuromuscular disorders. Research is being done on genetic therapies and new medications in hopes of finding a cure.

Treating symptoms, delaying disease progression and enhancing quality of life for patients is accomplished with medications, physical therapy, occupational therapy and, when necessary, surgery

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