What is neuromuscular disease?

Neuromuscular diseases are a group of disorders that include amyotrophic lateral sclerosis (ALS), Myasthenia gravis , and duchenne muscular dystrophy , in which certain nerve cells become diseased or die, causing muscle weakness and paralysis as well as other symptoms . In some cases, it can also affect the heart and lungs.

These diseases are mostly genetic. Carriers can have a child with neuromuscular disease without showing any symptoms. Neuromuscular diseases are incurable and therefore treatment includes managing symptoms and providing therapies to improve the patient’s life expectancy and quality of life.

What are neuromuscular diseases?

Some disorders belonging to the neuromuscular disease class are listed below:

  • Amyotrophic lateral sclerosis (ALS)
  • multiple sclerosis
  • Cash dystrophy
  • Myastenia gravis
  • Miyopati
  • peripheral neuropathy
  • spinal cord muscle atrophy

Causes of neuromuscular diseases

These diseases may be due to genetic factors or may be caused by a spontaneous gene mutation. Some can also be caused by immune system disorders.

What are the symptoms of neuromuscular disease?

There are many types of this disease and they should be treated by experienced and interdisciplinary physicians.

These diseases cause progressive muscle weakness and fatigue over time . Some neuromuscular disorders have symptoms beginning in infancy, while others may appear in childhood or adulthood. Symptoms depend on the type of neuromuscular disease and the areas of the body affected.

Some of the most common symptoms of such diseases are listed below:

  • muscle weakness that can cause twitching, cramps, aches
  • muscle loss
  • movement problems
  • balance problems
  • numbness, tingling, or painful sensations
  • droopy eyelids
  • double vision
  • swallowing problem
  • difficulty breathing

How are neuromuscular diseases diagnosed?

A physician examines the patient and takes his/her family and medical history. It may then cause a doctor to need other diagnostic tests, including :

  • blood test to check for elevated enzymes
  • Magnetic resonance imaging scan of the brain and spinal cord
  • lumbar puncture to check cerebrospinal fluid
  • Electromyography to record the electrical activity of each muscle
  • Nerve conduction studies to see how well nerve transmissions travel from nerve to muscle
  • Muscle biopsy to examine a sample of muscle tissue under the microscope
  • Genetic testing to confirm gene mutations
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How are neuromuscular diseases treated?

While there is no known cure for such diseases, these disorders or syndromes can be managed through a variety of approaches. Some treatments are:

  • Exercise and physical therapy : Some disorders may have more positive outcomes if the patient is encouraged to exercise to prevent muscle wasting. This should always be done under the guidance of an expert.
  • Medication : Medications can treat certain symptoms of muscle and nerve disease in the person concerned, as well as help with neuropathy pain and reduce inflammation.
  • Surgery : Some disorders may require surgery to improve outcomes and prolong life. The surgery recommended will depend on the disorder.

The guide to good health for the patient is to support exercise and proper nutrition. Many treatments have been shown to manage pain and extend lifespan for those with neuromuscular disease.

Some neuromuscular diseases are treated as follows:

  • ALS treatment: Treatment often includes the support of rehabilitation, nutrition, and lung care professionals. A breathing machine can prolong the life of someone with ALS.
  • Treatment of myasthenia gravis: Symptoms may improve significantly or even (usually temporarily) disappear with treatment that includes medication, blood transfusions, or surgical removal of the thymus gland.
  • Treatment of muscular dystrophy: Treatments aim to provide the patient with some independence while preventing complications from the progressive symptoms of muscular dystrophy that affect mobility, strength, heart and lung function.

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