Neuromuscular disorders
Neuromuscular disorders affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. Nerve cells (neurons) send and receive electrical messages to and from the body to help control voluntary muscles. When the neurons become unhealthy or die, communication between the nervous system and muscles breaks down. As a result, muscles weaken and waste away (atrophy). Some diseases affect the muscle itself and they are called myopathies. There are many neuromuscular disorders, and treatment by an experienced team is vital.
Examples of Neuromuscular disorders include:
• Amyotrophic Lateral Sclerosis (ALS)
• Guillain Barre, CIDP
• Charcot Marie Tooth disease (CMT)
• Toxic, metabolic, paraneoplastic, amyloid and infectious neuropathies.
• Carpal tunnel syndrome, ulnar neuropathy, radiculopathies, plexopathies
• Myasthenia Gravis
• Muscle disease (toxic, infectious, dermatomyositis, polymyositis, inclusion body myositis, muscular dystrophies, metabolic myopathies).
• Guillain Barre, CIDP
• Charcot Marie Tooth disease (CMT)
• Toxic, metabolic, paraneoplastic, amyloid and infectious neuropathies.
• Carpal tunnel syndrome, ulnar neuropathy, radiculopathies, plexopathies
• Myasthenia Gravis
• Muscle disease (toxic, infectious, dermatomyositis, polymyositis, inclusion body myositis, muscular dystrophies, metabolic myopathies).
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
• Muscle loss
• Movement issues
• Balance problems
• Numbness, tingling or painful sensations
• Droopy eyelids
• Double vision
• Trouble swallowing
• Trouble breathing
Diagnostic Tests
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. However, many patients can be successfully treated with steroids, IVIG, Plasma Exchange or Immunosuppressant medications. 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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