CMT in San Francisco Chronicle today

[Guest guest]

This is from today's column by Jon Carroll of the San Francisco

Chronicle. It mentions CMT !

http://www.sfgate.com/cgi-bin/article.cgi?

f=/c/a/2008/05/08/DDSL10HPA3.DTL & hw=jon+carroll & sn=002 & sc=805

Sometimes I watch the television program " House, " and I am always

amused when Dr. House barks, " Test for Whitsunday's syndrome " or " It

could be hydrotropic amanuensis. Take some spinal fluid. " The

conditions mentioned are always wildly obscure. (Even though Dr.

House is the best doctor in the universe, I really wouldn't want to

be his patient because he'd give me so many tests so fast that I'd

contract weeping disease. Better just to die of Kremzo-Philtrum

disorder than go through a painful tongue biopsy - three times.)

I figured the writers just made the diseases up - " House " is not

exactly a documentary. But I could be wrong. In the New York Times

this week there was an extremely interesting chart about genetic

correlations between diseases. You can see the entire thing at

tinyurl.com/69e388, and it's a fabulous time-waster, that is,

research tool.

Along with the usual diabetes and leukemia and epilepsy, the chart

contains any number of " House " -like diseases. Not just diseases that

I was a little vague about; diseases I had really never heard of.

These could be the so-called orphan diseases and, if so, there are an

awful lot of orphans. So I thought, as a public service, I might

research some of these dread conditions.

Note: A small percentage of the data here comes from Wikipedia, and

it is against the policy of this newspaper to use Wikipedia, because

after all people can mess with it and tell lies and all that. On the

other hand, the respectable-appearing Web site that you're using for

research could be run by people who believe that alien butterflies

live in your lymphatic system. I think Wikipedia is one of the better

research tools on the Web, particularly if you pay attention to the

various disclaimers at the top of many articles.

It's the hive mind in action; I have reason to trust the hive mind.

Charcot-Marie-Tooth disease: This affects 1 in every 2,500 Americans,

says the National Institute of Neurological Disorders and Stroke. It

is named for the three French doctors who discovered it, and it

affects the peripheral nervous system, the nerves in the limbs. It is

characterized by weakness and loss of muscle mass, usually in the

feet. It is sometimes painful. It is not fatal. There is no cure.

-Warburg syndrome: This dreadful but rare disease combines

congenital muscular dystrophy with mental retardation. There is

relatively little clinical research done on it becausemost patients

die before the age of 3.

Maple syrup urine disease: It got its name because the urine of

babies with the condition smells a lot like maple syrup. People with

the disease are unable to process certain amino acids properly. It is

a genetic disorder, and occurs more frequently in some populations

than in others. The incidence in Old Order Mennonites is 1 in every

385 births.

The condition is treatable through diet. If it's diagnosed early

enough, sufferers can lead normal lives. If it's not diagnosed at

all, it can be fatal.

s anomaly: This is an eye disease characterized by a cloudy

cornea and resulting vision impairment. It is usually diagnosed in

childhood. It is perhaps caused by genetic factors or environmental

factors or both. It is not fatal. I do not envy parents trying to

find out about treatment for s anomaly on the Web.

Tetralogy of Fallot: Named for the 19th century French physician

Etienne-Louis Arthur Fallot, who first described the disease. Fallot

never worked in Paris, and his contributions to medicine were not

recognized in his lifetime. Eventually he abandoned medical research

altogether, and during the last 20 years of his life, his only

publication was a description of a Neolithic grotto in Provence.

The tetralogy of Fallot is a group of four genetic heart malfunctions

that present together. I could describe them to you, but I'd just be

parroting something else and you'd be bored. It was incurable and

almost inevitably fatal before the age of 10 until the 1950s, when

operations were perfected that repaired the defects.

Carney complex: Again, good luck to people trying to look this up on

the Web. Here's what I know: The disease is genetic and is most

frequently characterized by spotty pigmentation on the lips, face and

trunk, and also myxomas (soft tumors) in the same places. In about a

third of the cases, it can produce myxomas in the heart, which is

not, as you may imagine, a good development. It usually appears in

middle age, but can present at any time.

But look, if you have spots on your skin, and maybe a little weird

wen on your neck, please do not worry. It's probably just, you know,

spots and wens. Although I am not a doctor. I think I'll go lie down

now.

Some diseases have funny names, but they are not funny diseases.

Nevertheless, you can always shout " Test for Bakelite! " when in a

hospital.

Marry, sir, they have committed false report; moreover, they have

spoken untruths; secondarily, they are slanders; sixth and lastly,

they have belied a lady; thirdly, they have verified unjust things;

and, to conclude, they are jcarroll@....

This article appeared on page E - 2 of the San Francisco Chronicle