What is Isaac’s Syndrome?

By Kellen Wilson January 27, 2010 - 11:42am Rate This

Can you imagine trying to fall asleep with muscle pain? Maybe you have tried. Sufferers of Isaac's Syndrome, an uncommon disorder also known as Isaac-Merten or neuromyotonia, experience an increase in muscle activity thus making sleep difficult.

Isaac’s syndrome is a peripheral nerve disease that causes muscles to become rigid. This neuromuscular disorder is caused by the continuous signaling of the end regions of peripheral nerve fibers that activate muscle fibers. In most cases, patients experience stiffness in the arms, legs and trunk muscles. Other symptoms include the continuous vibrating or twitching of muscles or cramping. It is the delay in muscle relaxation following muscle contraction that affects sleep or when patients are under general anesthesia. Patients who suffer from this chronic disease often develop weakened reflexes and muscle pain.

In some cases, the muscles of the pharynx and larynx are involved, producing speech and breathing problems. The throat muscles contract and sometimes “freeze” making it difficult or impossible to speak and get air. Onset of Isaac’s disease has been found most predominantly in both sexes from late childhood to early adulthood, with most patients experiencing symptoms before age 40. Research has shown that there are some heredity and acquired forms of this disorder. The acquired form is related to autoimmune deficiency.

Treatments for Isaac's syndrome include anticonvulsants, providing relief from the stiffness, muscle spasms, and pain.

Currently, there is no known cure for Isaac's syndrome. The long-term prognosis for individuals with the disorder is uncertain. But, there is an extensive research of basic studies to increase understanding of this and other diseases that affect the brain, spinal cord, muscles and nerves. The focus of the research is on the genetics, symptoms, progression, and psychological and behavioral impact of diseases. The goal of this research is to improve ways to diagnose, treat, and, ultimately cure the disorder.

Hyam Isaacs and Hans Georg Mertens are the physician-researchers for whom this disease is named.

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