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Neuralgic amyotrophy is a rare condition that causes muscle wasting, pain, and paralysis in the arms and shoulders. It occurs in discrete episodes, and some cases have no known cause. Corticosteroids may provide relief, but there is no effective treatment or cure. Some cases are caused by a mutation in the SEPT9 gene.
Amyotrophy is a descriptive term for muscle wasting, and neuralgia refers to pain in the nerves. In the specific condition called neuralgic amyotrophy, those affected experience both of these symptoms in the arms and shoulder area of the body. Paralysis is also a feature of this rare disease, but because the condition occurs in single flare-ups, symptoms often resolve over time. Although some people have specific genes that cause the disease, other cases have no known cause, as of 2011.
Neuralgic amyotrophy is also known as brachial neuritis or Parsonage-Turner syndrome. A typical patient with this condition experiences severe pain in one shoulder for the first time. The muscles in the affected area then become weaker and appear wasted, and the patient becomes unable to move the muscles. The paralysis appears to be due to damage to the nerves that, in healthy people, instruct muscles to move. The nerves that send sensation information to the brain may also be affected, and some patients experience numbness or abnormal sensations such as tingling in the affected area.
The condition occurs in discrete episodes. People who have neuralgic amyotrophy due to genetics tend to have their first episode when they are in their twenties or thirties, but some people are younger. Patients who produce neuralgic amyotrophy symptoms later in life are more likely to have the form of the disease for which scientists have not yet found a cause. Typically, an episode hits quickly, but the patient can take years to recover. Over time and more episodes occur, a patient may experience damage to the area and experience chronic pain.
One possible explanation for the symptoms of the condition is that the body’s immune system is causing the problems. This type of disease is called an autoimmune disease, in which molecules of the immune system inadvertently attack healthy cells. It is possible that autoimmune reactions could specifically damage the nerves in the shoulders and arms, and thus lead to wasting and paralysis, as well as pain. This concept of the immune component of the condition means that corticosteroids, which interact with the immune system, are a possible avenue of relief, although as of 2011, there is no effective treatment or cure.
For some people, a genetic cause has been identified. This is a mutation in a gene called SEPT9. In healthy people, SEPT9 contains instructions for the body to make a molecule called septin-9. If a person has one or more copies of SEPT9 that produce a different form of septin-9, then that person may develop neuralgic amyotrophy. Exactly how abnormal forms of septin-9 cause disease symptoms remains under investigation.
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