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DIAGNOSIS AT YOUNG AGE

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> Hi all. My girl is 6 and has CMT. Can anyone help me out with this one?

Do you think that since she had such an early onset that her case will

progress to the worst possible level?

I THINK THAT PROGRESSION DEPENDS MORE ON THE TYPE OF MUTATION THAN ON THE

AGE OF ONSET. YOU DO NOT MENTION THE CMT TYPE YOUR DAUGHTER HAS, BUT THE

ONSET OF CMT1 IS ALMOST ALWAYS IN THE FIRST DECADE AND MOST PEOPLE REMAIN

RELATIVELY STATIONARY FOR MANY DECADES.

I HAVE SEEN A GIRL WITH SEVERE CMT (DUE TO CONGENITAL HYPOMIELINATION)

STARTED AT THE AGE OF 2, WHO RECOVERED IN TIME AND AT THE AGE OF 10 HAS ONLY

A MILD

FOREFOOTDROP PLUS ROTATION (STAGE 2).

ON THE CONTRARY, A WOMAN STARTED WITH SYMPTOMS AT 45 AND PROGRESSED TO

BECOME CHAIRBOUND AFTER 15 YEARS.

BOTH THESE CASES ARE CMT 1B, BUT THE MUTATIONS ARE DIFFERENT.

ABOUT THE HEEL CORD: TRY TO LENGHTEN IT BY RELAXING THE TRICEPS SURAE MUSCLE

ON THE OSCILLATING TABLE. A SURGICAL LENGTHENING OF THE ACHILLES TENDON IS

TO BE DONE ONLY IF REALLY NECESSARY.

PAOLO VINCI

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