Neuromuscular Disorders

Neuromuscular disease (NMD) is a very broad term that encompasses many disorders and ailments, usually caused by the nervous system, that impair the functioning of the voluntary muscles.

Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down.

As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems.

Depending upon the location and nature of the problem, the impairment can cause either spasticity or some degree of paralysis. Sometimes it also affects heart function and your ability to breathe.

There are many neuromuscular disorders, and multidisciplinary treatment by a respected and experienced team, such as the one at Semmes Murphey Clinic, is important to help create the best possible quality of life for patients.

Types of neuromuscular disorders include:

  • Amyotrophic lateral sclerosis (ALS) (needs to link to copy below)
  • Charcot-Marie-Tooth disease
  • Huntington’s disease
  • Multiple sclerosis (needs to link to this section)
  • Muscular dystrophy
  • Myasthenia gravis
  • Myopathy
  • Myositis, including polymyositis and dermatomyositis
  • Parkinson’s disease (needs to link to this section)
  • Peripheral neuropathy
  • Spinal muscular atrophy (needs to link to copy below)

Neuromuscular disorders can be inherited or caused by a spontaneous gene mutation.

Symptoms

People with NMD experience muscle weakness and fatigue that progress over time. Some neuromuscular disorders have symptoms that begin at 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, either involuntary or lacking
  • Balance problems
  • Numbness, tingling or painful sensations
  • Droopy eyelids
  • Double vision
  • Trouble swallowing
  • Trouble breathing

To properly and thoroughly diagnose neuromuscular issues, the physicians at Semmes Murphey Clinic will examine the patient and take a medical and family history.

Part of this evaluation 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

While there currently is no cure for neuromuscular disorders, aggressive research is being done on genetic therapies, new medications and treatment protocols in hopes of finding a cure.

Generally speaking, physicians focus on treating symptoms, delaying disease progression and enhancing quality of life for patients with medications, physical therapy, occupational therapy and, when necessary, surgery.

Because of the variety of issues causing the myriad manifestations of neuromuscular disorders, it’s important to have a multidisciplinary treatment plan created by a respected and experienced team, such as the one at Semmes Murphey Clinic.

Semmes Murphey has a number of physicians and healthcare professionals who provide a comprehensive treatment plan for patients with neuromuscular disorders. Information on Parkinson’s disease and multiple sclerosis is provided elsewhere in this website. Brief information about a few others (Amyotrophic Lateral Sclerosis, Myasthenia Gravis and Spinal Muscular Atrophy) is provided below.

Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells in your brain and spinal cord. These transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. At first, this causes mild muscle problems.

Early symptoms include:

  • Trouble walking or running
  • Trouble writing
  • Speech problems

The disease usually strikes people between age 40 and 60, and more men than women. It is not known what causes ALS. It is sometimes genetic, but usually it strikes at random.

Unfortunately, at this time there is no cure. Medicines can relieve symptoms and, sometimes, prolong survival.

Eventually, ALS patients lose strength and cannot move. When muscles in the chest fail, patients are unable to breathe on their own. A breathing machine can help, but most people with ALS die from respiratory failure.

Semmes Murphey has a number of physicians and healthcare professionals who provide a comprehensive treatment plan for patients with ALS. It’s important to have a multidisciplinary treatment plan created by a respected and experienced team, such as the one at Semmes Murphey Clinic.

Myasthenia gravis (MG) causes weakness in the voluntary muscles or those under your control.

It is an autoimmune disease and occurs because of a problem in communication between the nervous system and muscles. Basically, the body's own immune system makes antibodies that block or change some of the nerve signals to the muscles and can make them weaken over time.

It can affect other muscles, but common symptoms are:

  • Trouble with eye and eyelid movement
  • Changing or drooping facial expression
  • Problems with swallowing

The weakness gets worse with activity, and better with rest.

There are medicines to help improve nerve-to-muscle messages and increase muscle strength. With treatment, muscle weakness often gets much better. Other drugs prevent the creation of so many abnormal antibodies.

There are other treatments to filter abnormal antibodies from the blood or add healthy antibodies from donated blood.

Sometimes surgical removal of the thymus gland helps.

Myasthenia gravis has been known to go into remission which can be temporary or permanent.

Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs.

As the neurons are attacked and die, the muscles weaken which can negatively affect:

  • Walking
  • Crawling
  • Breathing
  • Swallowing
  • Head and neck control

Genetic counseling is important if the disease runs in your family as parents usually do not display symptoms but still carry the gene.

There are many types of SMA. Some of them are fatal while others—depending on the type and how it affects breathing—provide a normal life expectancy.

Today’s treatments help to manage symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.

Semmes Murphey Clinic. Readers are encouraged to research trustworthy organizations for information. Please talk with your physician for websites and sources that will enhance your knowledge and understanding of this issue and its treatments.

The specialists at Semmes Murphey Clinic are experienced and familiar with neuromuscular disorders and their treatments.

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