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Diseases of the Neuromuscular Junction

Diseases of the neuromuscular junction are caused when the neuromuscular junction, the space where the nerve signal is passed from nerve to muscle, does not work correctly.

Myasthenia Gravis (MG)

Myasthenia Gravis is an autoimmune disease, a disease in which the immune system attacks the body's own tissues. This attack occurs at the junction between the nerve and the muscles and targets the acetylcholine receptor, the part of a muscle cell that receives signals from a nerve cell. The attack can also occur on muscle-specific kinase, a protein that helps to organize acetylcholine receptors on the muscle cell. The cause of myasthenia gravis is unclear, however, researchers suspect viruses or bacteria might trigger the autoimmune response. The thymus gland also sometimes plays a role in the disease. The disease can appear anywhere from childhood to adulthood and is 1.5 times more common in women than in men. The disease usually progresses to maximum severity within 1 to 3 years of onset, however, with proper treatment people can remain physically active. Symptoms often include fatigue and weakness of voluntary muscles, partial paralysis of eye movement, double vision, and droopy eyelids. Weakness and fatigue in the neck and jaws often occurs and patients usually have problems with chewing, swallowing and holding up their head.

Lambert-Eaton Syndrome (LES)
Onset: adulthood to middle age.

Congenital Myasthenic Syndrome (CMS)

Congenital Myasthenic Syndrome (CMS) is one of the many types of inherited diseases that affect the function of processes at the junction of nerve and muscle cells. CMS is caused by defects in genes that are necessary to make proteins of the neuromuscular junction. Usually diagnosed at or near birth, CMS is autosomal dominant, meaning it can be inherited through either parent; CMS is also autosomal recessive, when a faulty gene is inherited from each parent. Both the symptoms and progression of the disease vary depending on the type of CMS.