Re: Proximal CMT?

[Guest guest]

Hi Sally,

I have CMT 1A and weakness in back & neck, breathing & throat, digestion,

bladder, hip problems, etc., but my shoulders are doing ok. 

 

I do have lots of upper back weakness. I recall that when I was 13 and had to

wear a scoliosis brace, I had a very difficult time sitting up enough to keep my

chin off the brace.  From a young age, I've had a bump in my upper back, like an

older person.

But I also have distal weakness.  I was called a 'lazy baby', could never run

well, failed all the physical fitness tests in school, but I don't yet have foot

drop.  As for foot deformity, I have one foot that is normal looking and

another that's deformed.  The deformity didn't start until I was about 7 or 8,

then it got progressively worse until my mid teens.

I have total body weakness, but distal muscles are the weakest according to the

neurologist. I wasn't diagnosed until my 40's (after a family member was

diagnosed) and it was a surprise to me that I had a disease that primarily

affected distal muscles, since my entire body had always felt weak.  It

surprised my doctors as well, who missed my diagnosis due to its unusual

presentation.

 

But...everyone is different.  Just because there aren't a lot of other people

who have his exact issues, it doesn't mean it's not caused by CMT. However, it's

always wise to rule out any other causes.

 

[Guest guest]

Sally,

I am unsure of what type of CMT I have, but I have muscle wasting in my

shoulders. I find that shirts I used to wear now slide off my shoulders and also

when I lay down on my side my shoulders don't stay down, if you can understand

that. I am considered to have a more extreme case of CMT, according to my

doctor.

Jackie

[Guest guest]

Hi Sally,

I have also questioned about proximal weakness this past year. My son, Sully,

is 10, and though we knew he had CMT from birth (as I do) we just had his

diagnosis confirmed with nerve conduction velocities this past summer (because

of shoulder weakness, hip flexor weakness.)

I am 41, and only in the past couple of years have begun to notice proximal

weakness, though as I look back on it, my hip flexors weakening is why I began

AFO use at 32 (fatigue and hip pain.) And I remember extreme weakness with any

upper extremity effort like washing my car, even at about 18 years old.

Just in the past 2 years I feel my shoulder joints " separating " and have to push

the ball of my humerus back into place alot. When I asked the group about this,

I was shocked at many of us had proximal weakness first, or later, or coinciding

with distal weakness.

I remember when I was tested at MDA clinic when I was 21, they kept checking me

for an " onion bulb " on the Spinal Accessory Nerve that branches into the Long

Thoracic Nerve on the side of my neck which was a way they could tell whether

one had CMT 2 or CMT 1. Palsy of the long thoracic nerve causes scapular winging

due to back muscle weakness.

I have read also that proximal weakness only happens in the " rare, severe cases "

but after reading what folks in this group have to say, I believe that is not

the case. It seems to be just another symptom some have, and not necessarily

related to level of disability. You can search some of the older posts about

proximal weakness, too, which might be helpful.

Take care,

Mandy