Neuromuscular disease

Neuromuscular disease
Neuromuscular disease
Classification and external resources
MeSH D009468

Neuromuscular disease is a very broad term that encompasses many diseases and ailments that either directly, via intrinsic muscle pathology, or indirectly, via nerve pathology, impair the functioning of the muscles.

Neuromuscular diseases are those that affect the muscles and/or their nervous control. In general, problems with nervous control can cause either spasticity or some degree of paralysis, depending on the location and the nature of the problem. A large proportion of neurological disorders leads to problems with movement. Some examples of these disorders include Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), cerebrovascular accident (stroke), Parkinson's disease, multiple sclerosis, muscular dystrophy, myasthenia gravis, Huntington's disease (Huntington's chorea), and the Creutzfeldt-Jakob disease.


Symptoms and testing

Symptoms of muscle disease may include muscular weakness, spasticity/rigidity, loss of muscular control, myoclonus (twitching, spasming), and myalgia (muscle pain). Diagnostic procedures that may reveal muscular disorders include direct clinical observations (above all), the testing of various chemical and antigen levels in the blood, and electromyography (measuring electrical activity in muscles). Diagnostic imaging may be helpful in certain cases, such as those caused by strokes or tumors.

Causes, including autoimmune diseases and poisoning

Neuromuscular disease can be caused by circulatory problems (strokes, etc.), immunological and autoimmune disorders, the failure of the electrical insulation surrounding nerves myelin, genetic/hereditary disorders, such as Huntington's disease, certain rare tumors, the failure of the connections between the nerves and the muscle fibers, exposure to pernicious environmental chemicals, poisoning - including heavy-metal poisoning, and importantly, unknown causes. The failure of the electrical insulation surrounding nerves, the myelin, is seen in certain deficiency diseases, such as the failure of the body's system for absorbing vitamin B-12, and also the failure of the myelin is seen in multiple sclerosis and some other neurological diseases, especially in autoimmune diseases that are thought to attack the myelin.

Some neuromuscular diseases are hypothesized to be caused either by viral infections or by attack by little-known pernicious proteins called prions.

Diseases of the motor end plate include myasthenia gravis, a form of muscle weakness due to antibodies to the acetylcholine receptor, and its related condition Lambert-Eaton myasthenic syndrome (LEMS). Tetanus and botulism are bacterial infections in which bacterial toxins cause increased or decreased muscle tone, respectively.

The myopathies are all diseases primarily resulting in muscular degeneration, rather than affecting the nerves themselves.

The Muscular dystrophies, including Duchenne's and Becker's, are a large group of diseases, many of them hereditary or resulting from genetic errors, where the bnmuscle integrity is disrupted. They lead to progressive loss of strength and decreased life span.

Inflammatory muscle disorders


Tumors of muscle are of the soft tissue sarcoma‎ group and include:

Smooth muscle has been implicated to play a role in a large number of diseases affecting blood vessels, the respiratory tract (e.g., asthma), the digestive system (e.g. irritable bowel syndrome) and the urinary tract (e.g., urinary incontinence). These disease processes are not usually confined to the muscular tissue. In general, muscle tumors are rare, since muscle cells are not constantly dividing cells.

Tumors of the thymus gland are implicated in some cases of myasthenia gravis and other neuromuscular diseases.

Tumors of the peripheral nervous system are known, but rare, because nerve cells are not ones that divide very much under normal circumstances.

See also

  • Muscle
  • ICD-10 Chapter XIII: Diseases of the musculoskeletal system and connective tissue


  • Centronuclear myopathy
  • Myotubular myopathy

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