Testing your children for CMT

March 18, 2008

Hello to everyone. And thanks for such a wonderful group. I have only

posted a couple of times, and that was years ago. I keep up with the

posts when I can however. I am 40 yo and have CMT 1A, use bilat.

AFOs when walking alot, and am in PT right now for increased

shoulder weakness/arthritis, UE tremors, and neck stiffness/weakness.

My Mother who has been deceased since 2001, had severe scoliosis and a " cyst " on

her spine in childhood, followed by thoracic fusion, and subsequent decline to

quadriplegia by her 40's. She had to go on a ventilator at 60 years old, and

died at 62. MDA diagnosed my mother with CMT 1A after my diagnosis when I was

20 yo. Though it was felt that something else was going on with her as well

probably.

Well, now I have 2 sons, ages 13 and 9. And they are who I am concerned with at

this time. I have not had them tested yet. My youngest son is having some

issues with handwriting and his teacher makes him rewrite his essays sometimes

3-4 times. He has some biceps shortening and has some apparent weakness in

shoulder abduction (can't extend his arms like airplane wings.) He can

dislocate his shoulders at will, with some mild pain.

My doctor told me to give him some pencil grips for his handwriting--not

realizing shoulder stability must be good in order for handwriting to come

easily. I took him to an Orthopedist today who came in a hurry and flopped my

sons arms around and said nothing was wrong. But took xrays and charged several

hundred dollars. No manual muscle testing for strength, or active range of

motion.

I explained that I have CMT and that my son has tightened heel cords and

diminished reflexes in his lower extremities. The ortho said " So, there is

nothing you can do about it. " But couldn't he have therapy and education and

learn joint protection techniques that might possibly minimize what arthritic

joints and overuse syndrome he may have in the future?

Sorry I am so winded. Any thoughts would be greatly appreciated.

Mandy

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