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Physicians Heal Bridge to Nowhere; Iraqi Girl With Rare Neuromuscular Disorder Has New Hope
Date:11/13/2009

rought with them, Aram had already been tested for myasthenia gravis, a rare neuromuscular disorder that seldom affects children. So physicians were looking for something even rarer, a "zebra," (as opposed to a horse) as El Khoury described it. They also didn't know if a seizure disorder, a remnant of meningitis when she was 2, possibly played a role.

"I didn't know what I would find," said Pedro Mancias, M.D., associate professor of pediatrics and neurology at the UT Medical School at Houston and the university's neuromuscular specialist in childhood disease. "Through testing we ascertained that her sensory responses were normal but her motor responses were on the small side, so it had to be something with the motor system."

It turned out that it was myasthenia gravis, but an extremely severe case. "Her blocking antibodies were sky high," Mancias said.

Myasthenia gravis is an autoimmune neuromuscular disease that causes weakness of the voluntary muscles in the body. It can be thought of as a bridge leading to nowhere. A nerve impulse travels from the brain and attempts to cross the neuromuscular junction in order to make the muscle move. But when the neurotransmitter tries to reach the muscle, the "bridge" ends abruptly in mid-air, leaving the transmitter with no place to land. The necessary landing spot has been wiped out by an overactive antibody produced by the thymus gland, which plays an important role in the development of the immune system in early life.

The disease affects 7 to 14 people in every 100,000 and most commonly occurs in young adult women and older men, according to the U.S. Department of Health and Human Services. It can be difficult to diagnose because symptoms can mimic those of other diseases. Aram was unusually young to have the disease.

"It's usually diagnosed within a year in the United States," Mancias said. "Without treatment, people who suffer from myasthenia gravis eventually can'
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SOURCE University of Texas Health Science Center at Houston
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