Baffling disorder

[Guest guest]

Baffling disorder

http://www.pottstownmercury.com/articles/2009/06/28/life/srv0000005681702.txt

When Dana Schwertfeger was growing up in Wallingford in 1975, he was an active

teen who enjoyed sports and outdoor activities. At 18, he started to notice

muscle weakness in his lower legs. Examined by a physician, he was told he

needed to get more exercise.

Gradually the young man's leg weakness worsened and he developed foot drop,

hammertoes and other problems he initially attributed to poor footwear.

When seen by a neurologist, Schwertfeger received a thorough examination that

including testing for both motor and sensory nerve function. For example, deep

tendon reflexes, such as the knee-jerk response, were tested.

A nerve conduction study was ordered to measure the velocity and strength of the

electrical stimulus moving down the peripheral nerves, those nerves outside the

brain and spinal cord, and an electromyogram (EMG) measured the signal to the

muscles in the arms and legs.

At age 20, Schwertfeger was diagnosed with Charcot-Marie-Tooth (CMT) disease, a

neurological disorder that got its name for the physicians who discovered the

disease in 1886.

CMT, still unknown to many people, including some healthcare professionals, is a

genetic disorder in which nerves leading to the extremities slowly degenerate,

causing muscle atrophy leading to deformities in lower legs, feet, arms and

hands, according to the Charcot-Marie-Tooth Association (CMTA), established in

1983 and currently based in Chester.

It is believed CMT is the most commonly inherited peripheral neuropathy,

affecting one in every 2,500 Americans and 2.6 million people worldwide,

according to CMTA. Most cases are diagnosed in young people, usually in their

teens or 20s, like Schwertfeger. Some people with a different genetic type of

the condition may not experience symptoms until their 40s or 50s.

If CMT is suspected, neurologists generally ask patients if any family members

have similar symptoms since the disease is inherited. Schwertfeger, who was

adopted, had no access to family medical records. But lack of family history

does not rule out CMT; it just causes physicians to consider other causes for

the symptoms, such as diabetes or exposure to drugs or chemicals.

" Doctors have often called me the medical man of mystery, " Schwertfeger joked.

The most common form of CMT is inherited as an autosomal dominant pattern. This

means if one parent has the disease, each child has a 50-50 chance of inheriting

it.

In less common forms of CMT, the genetic pattern is autosomal recessive. This

means if both parents are carriers of the gene, they have a one in four chance

of having an affected child.

Finally in the X-linked CMT inheritance pattern, the defective gene is carried

on the female sex chromosome. Females with X- linked CMT have a 50 percent

chance of passing the gene to either a male or female child, and this child may

be less severely affected. If the male is the affected parent, he cannot pass

the gene to a male child. He will always pass the gene to female children.

CMT can also develop as a result of a new or spontaneous mutation. Even with the

identification of the genes causing CMT, inheritance patterns still make

diagnosis difficult, especially when there is no family history.

More than 50 different genetic variants can cause CMT, and while the results of

electrodiagnostic testing can be used to determine whether a person has a

demyelinating (loss of protective covering of the nerve), type 1, or axonal

(damage to the nerve body) type 2 form, genetic testing is necessary to identify

the subtype.

Genetic testing is commercially available for some, but not all of the defective

genes associated with CMT. A positive test can provide a definitive diagnosis

and provide information for family planning. However, a negative test does not

rule out CMT.

" When I was diagnosed with CMT, I was told it was a progressive disease and it's

not known how fast the disease will progress, " reported Schwertfeger. Newly

diagnosed patients still ask the same question, he noted, and this information

is still true today.

Critical to patients diagnosed with CMT is immediate and appropriate treatment

from physical therapists, occupational therapists, podiatrists and orthopedic

surgeons, according to CMT experts.

Unfortunately, many patients are still told nothing can be done to treat the

disease. But early intervention can by strengthening the muscles that have not

atrophied, and may also prevent of delay orthopedic complications.

The advice generally given to patients with CMT is to find the least invasive

way to correct their movement problems, according to the CMTA.

The major goal is to preserve movement and the muscle strength and flexibility

patients have for a long as possible. Physical therapists can tailor an exercise

program to each individual. It's not possible to build muscles already atrophied

so the goal is to strengthen the unaffected muscles. Swimming is often

recommended.

To correct walking and gait difficulties associated with CMT, bracing is the

least invasive therapy. With the use of a hinged brace or an unarticulated,

molded brace, an ankle-foot orthosis (AFO), patients have less foot drop and

ankle instability. Bracing also provides better balance for patients and gives

them confidence in walking. In many people, braces can make the difference

between being active or isolating themselves.

Besides the weakness experienced in the hands, arms, and legs of patients with

CMT are foot deformities such as dorsiflexion of the foot, high arches and

hammer toes which can cause pain and impede walking,

In addition to seeking the services of a pedorthist, a person certified in

fitting shoes for people with special feet, patients with CMT should also see a

podiatrist regularly. Since the sensory nerves are affected by the disease, it

is important for the circulation of the feet to be assessed and the presence of

ulcers detected. Professional toenail cutting is safer than self-treatment.

Surgery may be a last option for patients with CMT to correct orthopedic

problems.

Also, pain management is an important consideration, In patients with CMT, pain

varies, but it should not be ignored by the treatment team.

CMTA encourages and supports patients with CMT to become advocates for their own

care. Schwertfeger, director of member services for CMTA for five years, serves

as a role model for others.

" When I was in my 20s I was fitted for AFOs. While wearing braces, I have an

almost normal gait and can take my dog for a 2-mile walk. At first glance, I

don't appear disabled, but my CMT does pose problems in various ways. I am able

to pick up an 80-pound bag of mulch, but I lack the dexterity to open a packet

of ketchup without my hands being affected, " he shared.

Schwertfeger is passionate about educating and advocating for patients/families

with CMT, healthcare professionals and the public about this still little-known

disease. With a current membership of 5,000, the director would like to see the

membership increase to 50,000.

Upbeat about increased awareness of CMT, of research leading to new treatments

and a possible cure, Schwertfeger encourages people to access the CMTA Web site:

www.charcot-marie-tooth.org.

" As patients, we are the strongest advocates for our cause, " he said. " We need

people to get involved. My family, my friends and the people I work with realize

that CMT is a serious disease and that I'm not lazy or making excuses when I say

I'm tired or unable to do something. "

Penn State football coach Joe Paterno and his wife, Sue, have served as

spokesmen for CMT in fund-raising and increasing awareness of the disease.

[Guest guest]

Great article. Really summarizes well with simple language

Jackie