Louisana/Acadian/Cajun CMT

[Guest guest]

CHARCOT-MARIE-TOOTH written by Nola Mae Ross

THE CAJUN CRIPPLER

" Our son, Bill, was diagnosed with Charcot-Marie-Tooth when he was in

high school, " relates one local father. We had noticed him stumbling a

lot when he was young, but figured he was just clumsy.

Then, as he got older and was playing baseball, he's fall over his feet

and try to walk on the sides of them. Our family doctor sent him to an

orthopedic surgeon in Lake who did several operations, trying to

make him mobile. His case was so severe that he's in a wheelchair today.

Two other members of our family have lighter cases. Charcot-Marie-Tooth

(CMT) is an inherited neurological disease which leads to the

deterioration of muscles in the feet, lower legs, hands, and/or

forearms. The name is derived from three doctors who described the

disorder in the 1880.

CMT, has been called the " Cajun Disease " because of its high incidence

among those Acadian or " Cajun " descent. However the condition is the

most common form of peripheral neuropathy, and is found worldwide, in

all races and ethnic groups.

The disease was " rediscovered " in Louisiana in the 1970's by a

neurologist, Dr , who is now at Tulane University.

Dr. began finding this crippling disease in many families of

Cajun descent. So he started getting groups of Acadians together to

trace their ancestry. A blood test was also developed, allowing parents

to learn which of their children had inherited CMT.

The first symptom of CMT is usually foot deformity, such as a high arch

or flexed toes, which causes difficulty in walking. Patients often find

it hard to hold a foot up, and they trip on curbs or other obstacles.

They have to step higher than normal, walk with deliberation, and

usually have a gaited step.

The lower arms and hands are also often affected. One area man details

having such a severe case of CMT in his hands that he was hardly able to

use them. After several surgeries, in which bones were straightened and

tendons rerouted, he now has limited use of his hands. The man also has

a daughter and sibling with CMT.

Sadly, this disease often strikes multiple members of the same family.

And because of the great number of families with the Acadian backgrounds

in Southwest Louisiana, there is thought to be a large number of

undiagnosed cases in this area.

Today, with blood test and thorough check of their ancestry, people at

risk can be identified.

If one parent has the CMT trait, each child stands a 50% chance of

inheriting the disease. In less common cases, a child inherits the

defective gene from both parents. The parents themselves are usually

unaffected.

However, many parents of patients have discovered they may have also had

mild cases of Charcot-Marie-Tooth which were never diagnosed. When the

disease began to show up in their children, they sought help.

While the condition is known to be hereditary, family histories vary.

One Lake , Louisiana woman with CMT says that her family has

checked back with cousins, aunts, uncles, and extended relatives, and

found nearly 75 family members who are afflicted with the disease. In

another family, the only discovered ancestor thought to have been

affected by CMT was a grandfather who " could not wind his pocket watch

because of clumsy fingers. " His family assumed he had arthritis.

Dr. R. Lupski, a pediatrician and medical geneticist in Houston

who has done extensive work with CMT, has compelling personal interest.

He, too, has CMT.

" Three of my siblings also have the disease, " says Dr. Lupski, " yet

neither of my parents had it. My older brother was first diagnosed as

having muscular dystrophy. Eventually, he was referred to an orthopedic

surgeon who suspected CMT.

My own symptoms appeared when I was in high school. My feet became so

misshapen that putting on shoes became pure torture and I sprained my

ankles constantly. When I was 15, I underwent the first of eleven

surgeries to fuse ankles and transfer tendons that enable me to walk

less painfully.

We've learned more about CMT in the past 7 years than in the previous

100 years. Still, I would say we're only at 5 on a scale of 10, in

understanding this disorder.

Dr. reports that up to 60% of the 314 patients currently enrolled

in a muscular dystrophy clinic in Lafayette are believed to have CMT. No

figures were available for the Lake area.

Children's Special Health Services in the Lake , Louisiana Health

Unit has doctors with the expertise in this disease, who come to Lake

on a regular basis to see CMT patients. They also offer

information on how to live with the disorder, since there is no known

cure for it.

Even though there is no cure, expert treatment is available for those

diagnosed with CMT. Physical therapy to maintain muscle strength, as

well as leg braces and custom-made shoes can help improve quality of

life for many patients, and in some cases, symptoms of the condition can

be corrected with orthopedic surgery. Those who are diagnosed early can

also plan career choices which do not require overuse of hands and feet.

Although Southwest Louisiana does not have an accurate case count of

this " Cajun Disease, " more and more of the region's neurologists and

orthopedic surgeons are becoming knowledgeable in this field. They are

now able to offer better help to their patients.