Genetic condition affects nerves

n Area residents learn to live with Charcot-Marie-Tooth Disorder.

Jimmy Mincin
When Patrick Torchia was 30 years old, he was preparing for a new chapter in his life; a chapter that would start with marriage. But two weeks before the wedding, a sprained ankle from a fall marked an altogether different kind of beginning: the revelation of a debilitating neurological disorder.

His ankle was sprained badly, but Torchia wasn’t ready for what his doctor had to say: He had a mild form of Charcot-Marie-Tooth Disorder (CMT), a genetic condition that causes patients to slowly lose normal use of their feet, legs, hands and arms as nerves to the extremities degenerate and muscles in the extremities become weakened.

Initially, Torchia was skeptical, but after undergoing nerve conductivity studies, it was confirmed — he had CMT.

But he turned a negative into an impetus for success by choosing to fight and live his life to the fullest.

“For me, I’m very aggressive with exercise,’’ he said. ‘‘I’m very active to try and maintain what muscle I have left. That’s what has enabled me to strive harder in my personal life and in my business career. Because of this disease, I’ve actually become more motivated than people who don’t have it.’’

Today, Torchia, 54, of Johnstown serves as chairman and president of the Charcot-Marie-Tooth Association (CMTA), a nonprofit support group for CMT sufferers based in Chester, Pa.

Since 1983, the CMTA has aimed to generate the resources to find a cure, create awareness and improve the quality of life for those affected by the disease.

The group recently teamed with the John P. Murtha Neuroscience and Pain Institute in Johnstown to conduct a comprehensive CMT prevalence study in eight southwestern Pennsylvania counties: Allegheny, Westmoreland, Indiana, Clearfield, Cambria, Somerset, Bedford and Blair.

The purpose of the study is to get a closer look at CMT’s affect in this region by educating the public about the disorder’s existence and impact.

Doctors’ offices throughout the eight-county region have agreed to participate in the study.

“There is a lack of knowledge on the part of the medical community about CMT right down to those who have it,’’ Torchia said. ‘‘Through state grants, CMTA is trying to benefit physicians and CMT sufferers alike by educating both.’’

According to the National Institute of Neurological Disorders and Strokes (NINDS), CMT is one of the most commonly inherited neurological disorders, affecting approximately 1 in 2,500 people in the U.S. Depending on the severity and type of CMT, it may cause foot bone abnormalities, high arches and hammer toes, loss of muscle tissue, problems with balance and hand function, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, scoliosis (curvature of the spine) and sometimes, breathing difficulties.

Typically, the first signs of CMT include leg weakness and frequent tripping and falling, the institute said, and can be detected at any age. It does not affect life expectancy, but can, in rare instances, cause severe disability. It usually is inherited — if one parent has CMT, there is a 50/50 chance of each child inheriting the disease.

CMT was discovered in 1886 by three physicians for whom it was named: Jean-Martin Charcot, Pierre Marie (both of Paris, France) and Howard Henry Tooth (of Cambridge, England).

Charles Hagan, executive director of CMTA, said that prevalence studies also are important for funding purposes, too.

“When you try to get government funding for this type of research, it is predicated on how many people are impacted,’’ he said. ‘‘This is the first prevalence study to try and put a number on CMT.”

Like Torchia, Gina Sweeney learned of her CMT through a sprained ankle.

“I was known as a klutz — falling all the time and running into walls,” she said. “My ankle was always spraining and breaking. My mom finally just said, ‘There’s something wrong here.’”

When her feet started to deform and she developed a wider-than-normal gait, Sweeney’s mother took her to see a doctor in Johnstown — he wasn’t sure what was wrong. She was then sent to a Pittsburgh doctor who recognized the signs.

“I consider myself one of the lucky ones because I got a doctor who knew right away what I had,” Sweeney said. “CMT is very hard to diagnose; people are misdiagnosed all the time.”

Today, Sweeney, now 34, has a daughter of her own with CMT. She understands the importance of conducting a prevalence study.

“I think people should take the time to do it,” she said. “CMT is a hereditary disease. That 20 minutes you take to fill out the questionnaire could help generations to come.”

People like Torshia and Sweeney are serving as an inspiration to all CMT sufferers by keeping a positive mindset.

“The biggest thing is, you have to keep your head up,” Sweeney said. “Because you can still live a normal life.”

Mirror Staff Writer Jimmy Mincin is at 946-7460.





Charles Hagins, executive director of CMTA, said the CMT prevalence study is purely for research purposes, and participation is voluntary. The identities of all participants, and all personal information submitted is strictly confidential. There are three ways to access the survey questionnaire, which takes about 20 minutes to complete:

1) Online: Respondents can visit the CMTA Web site (www.charcot-marie-tooth.org), where they can link to the Conemaugh Health System Web site (under “Quick Links —Southwestern Pennsylvania Patients Prevalence Study”) and complete the questionnaire online.

2) Request a printed survey: A printed copy of the survey is available by calling Conemaugh Health System toll-free at 1-888-405-0139.

3) Find the survey at doctors’ offices: The survey is available at more than 1,200 doctors’ offices in the eight-county area covered by the study.

—Charcot-Marie-Tooth Association