Re: More prominent proximal wkness w/ CMT 1A

[Guest guest]

Hi Mandy,

I also have CMT1A and I've experienced both proximal & distal muscle involvement

from an early age.

I didn't know I had CMT when I was a child, so my muscle strength wasn't tested

at the time, but the evidence of promixal weakness was there as a preteen with

scoliosis, neck weakness, hip dysplasia, dislocating knee caps, and slow moving

bowels.  My feet appeared completely normal until about the age of 7 when one

foot began to gradually change and take on a pes vagus appearance by the age of

10 or 11.

I'm 45 yrs old now and my 'good' foot still looks normal and I still have good

dorsiflexion in both feet.  I believe my hip flexors are weaker than my

dorsiflexion muscles.  I say this because I have difficulty lifting my thighs,

but I don't have evidence of foot drop yet.

We all progress differently.  With a few of us with 1A, the calf muscles are

overdeveloped and the distal muscle weakness may not be obvious.  That's what

happened to me.  This caused the doctors to misdiagnose me for 42 years.  I

think your son is fortunate to have an early diagnosis.  His symptom

manifestation may not be common among those with CMT, but it doesn't sound

inconsistent with it either. 

[Guest guest]

Hello Mandy I was just reading your post. My son and I have CMT. We never had

genetic testing. Our diagnosis was all through symptoms and nerve conductive

testing. They said type 2 but after reading so much on here, I have some doubts.

We both were diagnosed in 1992. I was 36 and he was 16.

I knew since he was small there was a problem but was always dismissed by

doctors as my son being such a big boy and they said he was just clumsy. My son

has similar problems as yours. Tremors and weakness and unbalanced. I did

see a bit of muscle improvement in my son when he went through puberty. He

was still slow in gym class all through school and hated it. Where we live if

you

take up band you didn't have to take gym as much. So he became a awesome

trombone player. He also played football because he was so big.

He is 30 now and is doing well. He does get tired when he over does physical

work. I think the stretching and the mild weight lifting to build muscles

helped him. I know we are all different so what was good for him might not

work for every one.

And one personal note. I noticed your name.. Is your last name ? My

maiden name is . Something else in common. Well good luck with your son.

Sounds like he has a good Mom that is right on top of things.

Carol

[Guest guest]

Hi ,

Thanks for responding! Wow, that is really interesting that you have

done so well regarding foot drop. It helps me alot to hear that

different doesn't necessarily mean " worse " , though, I know we all

have our own row to hoe. You responded to my post in the spring

about my own proximal weakness I am experiencing. Now, it makes more

sense to me--- not so freaky! Thanks!!

Mandy

[Guest guest]

Hello Carol.

Thanks for the positive words! That is great that your son is doing well, and

did well through puberty. Gives me a positive to focus on. I had read

something recently about exacerbations during our more hormonal times of life

with CMT, so I am very glad to hear that your son did well! And, yes, my last

name is ! My husband's family is from NC. We live in upstate SC,

however.

Mandy

[Guest guest]

Mandy,

Sorry to be so ignorant, but what exactly do you mean by proximal and

distal weakness? My 5 year old daughter has type 4C. Her main symptoms

are poor balance and an awkward gait. We've been focusing on her feet

and heel cords, but your post made me wonder if her hips are affected too.

Sherry

[Guest guest]

Sherry,

Proximal is closer to the body or point of attachment, Distal is away from the

body. So your thigh is at the proximal end of your leg while the toes are at the

distal end. Such language gives medical professionals the warm fuzzies.

Ed

[Guest guest]

Thanks, Ed. I'll remember to throw those around when I want to give

someone medically inclined a warm fuzzy.

Sherry

>

> Sherry,

>

> Proximal is closer to the body or point of attachment, Distal is

away from the body. So your thigh is at the proximal end of your leg

while the toes are at the distal end. Such language gives medical

professionals the warm fuzzies.

>

> Ed

>