A University of Utah physician has been awarded a $157,000 grant to conduct a new study of Charcot-Marie-Tooth disease, a neuromuscular disorder that causes progressive weakness by affecting the motor nerves controlling the feet, lower legs, hands and forearms.
Degeneration of sensory nerves may also result in some loss of sensation in the hands and feet.The grant by the Muscular Dystrophy Association will allow Dr. Phillip F. Chance to collaborate with the growing team of researchers who are searching for the genes that, when defective, cause the different forms of CMT.
"Dr. Chance's work will be crucial in understanding the chain of events causing one specific form of this hereditary disorder," said Pat Baker, MDA district director. "His work will undoubtedly bring us closer to providing an effective treatment for a disease that can strike with such tragic results."
MDA investigators believe that CMT is a group of at least three disorders with similar symptoms originating from defects on separate genes - the hereditary blueprints controlling growth and repair.
They have identified several different chromosomes on which these genes are probably found.
Chance, a professor of genetics, hopes to pinpoint one CMT gene, located somewhere on chromosome 17, by studying genetic material found in blood cells from members of families affected with CMT.
"Discovering the different forms and causes of this disease is crucial, because researchers will then be able to conduct clinical trials with participants who have the same form of CMT and who could respond effectively to a specific treatment," Chance said.
MDA supports research worldwide seeking cures for CMT and 39 other neuromuscular diseases, including the muscular dystrophies, amyotrophic lateral sclerosis (Lou Gehrig's disease), and myasthenia gravis.
It also maintains a wide range of patient services, including some 230 clinics nationwide, and public health and professional education programs.