Re: For Cindy re:easing your confusion

[Guest guest]

Reply to Kruser's post - Feb 9

> I was diagnosed with CMT Type 2 for the first time 17 months ago. Prior

to that for 5 years, my diagnosis was Hereditary PN. The diagnosis of CMT

came from a team of neurologists at the PN clinic at the University of

Chicago. Comments in the medical report they prepared are " We consider a

sensorimotor anxonal neuropathy to explain the symtoms. We will think of

hereditary neuropathy, especially CMT type 2, although the asymmetry of the

weakness of the lower extremities is atypical for that diagnosis. " Could

someone in the group explain to me what that means?

IT MEANS THAT THEY ARE NOT SURE YOU HAVE CMT, SINCE CMT IS SYMMETRICAL, THAT

IS BOTH SIDES ARE AFFECTED AT THE SAME DEGREE (OR ALMOST).

I had never heard of CMT before then. I was in denial, because I didn't

seem to have some of the " classic " symptoms of high arched feet, etc.

NOT 100% CMTERS HAVE HIGH ARCHED FEET. SOME HAVE FLAT FEET OR NORMAL FEET.

However, since I discovered , and reading others' stories, I am

CONVINCED I have CMT. All that my regular neurologist would say on my last

visit a few weeks ago, is that he wouldn't necessarily DISAGREE with that

diagnosis. I believe my symptoms of muscle fatigue, muscle cramps, inability

to walk more than a few yards without the assistance of my cane, being

unable to write, button, zipper, or any other functions with my hands after

limited use, lack of balance, poor gait, hand tremor, and so on, are

indicative of CMT. Then tonight, I read Gretchen's e-mail about HNPP

defined, and how the symptoms may be very similar to CMT, but the illness is

actually the exact opposite.

ONLY GENETICALLY AND FOR THE MOST COMMON HNPP TYPE DUE TO DELETION (= LACK

OF A COPY) OF THE SAME GENE THAT, IN CASE OF 3 COPIES, CAUSES CMT 1A.

HOWEVER SOME HNPP PEOPLE HAVE MILD SIGNS OF CMT (FUNCTIONAL STAGE 1 OR 2),

RATHER THAN (OR IN ADDITION TO) LIABILITY TO PRESSURE PALSIES. IT IS NOT

THE ILLNESS TO BE THE OPPOSITE, BUT THE GENETIC DEFECT.

Since my illness has worsened so much in the last 10 months or so, I just

don't know what to believe any more. And since there is no genetic testing

for CMT2, how do I know what I have? I'm the youngest of 5 children (I'll

be 44 next Wednesday), none of whom display any symptoms, and my parents

both died before I was diagnosed. My husband and I have 3 children ranging

in age from 15 to 24.

SINCE NOBODY IN YOUR FAMILY HAS CMT, NEUROLOGISTS CANNOT " AFFIRM " THAT YOU

HAVE " HEREDITARY " PERIPHERAL NEUROPATHY (PN). DID THEY EXCLUDE ALL OTHER

CAUSES (ACQUIRED) OF PN? HAVE YOU UNDERGONE SURAL NERVE BIOPSY?

A PRECISE DIAGNOSIS IS VERY IMPORTANT, BECAUSE, UNLIKE CMT, SOME OTHER

PERIPHERAL NEUROPATHIES CAN BE CURED.

SINCE SOME LATE ONSET CMT2 CASES ARE DUE TO MUTATION IN THE CMT 1B GENE MPZ

(P0), I'D RECOMMEND YOU TO BE TESTED FOR IT AND ALSO FOR OTHER HEREDITARY

AXONAL NEUROPATHIES SUCH AS AMYLOIDOSIS (TRANSTHYRETINA): THIS IS WHAT WE DO

IN ITALY (INDEED, IN ITALY WE TEST CMT2 PEOPLE FOR ALL KNOWN CMT GENES).

Paolo Vinci, MD

www.aicmt.org