age at diagnosis

[Guest guest]

Gretchen -

Thanks for the welcome!  I'm still taking all of the information in.  I'm just

upset that there isn't more information.

My understanding from what I have read, the CMT2d is normally diagnosed between

the ages of 15 & 30, so the girls neuro-muscular specialist is dumbfounded that

they were diagnosed at such a young age.

At what age where you when you were diagnosed with CMT2?

Mother to Ashlee Rayne & Aimee Renae

________________________________

From: gfijig <gfijig@...>

Sent: Wed, November 10, 2010 10:48:38 AM

Subject: Welcome

 

Good Morning , and thanks for the introduction. I don't know exactly what

information you are looking for, is it physical therapy, bracing,

genetics,disease specifics, support groups in your area or indiosyncracies

or...?

CMT 2D is axonal, meaning the problem is within the nerve

itself.http://neuromuscular.wustl.edu/time/hmsn.html#2d While there is no

specific treatment available right now, a group of international researchers is

meeting this week to discuss clinical trials and protocols for all of the known

Type 2 CMT.

In the meantime, many of us have found exercise and good nutrition to be of

benefit. With young children, their play can be the best exercise. I'm sure

other Moms will jump in to say hello and offer their experience.

Aimee and Ashlee are lucky knowing their genetic type of CMT. There is a

research program ongoing for CMT 2 at the The P. Hussman Institute for

Human Genomics (HIHG) wat the University of Miami School of Medicine.

Contact info

hihginfo@...

Tel: 1-877-686-6444

I have CMT 2, but haven't been subtyped to exact mutation, but I am part of this

research project.

Gretchen

[Guest guest]

Hi ,

I was about 7 when I started falling on the playground while 'dodging' the ball.

But not until I was 10 was I diagnosed. The three years in between I wore

'corrective shoes' to school, as suggested by an orthopedist, since he wasn't

sure why I was falling and very fatigued. When I was 10, I had a new orthopedist

who first looked at the bottom of my shoes (he could tell what part was getting

too much wear and tear) and he said surgery would give me a more natural walk.

So that summer (1962) I had tendon surgery on both feet, which has lasted all

these years.

I agree, the information about CMT 2D is limited. Only about 16 articles in the

National Library. I have read that CMT 2D is also known as Distal Spinal

Muscular Atrophy 5 (CMT2D/dSMA-V) which is characterized by adolescent or early

adult onset of bilateral weakness and atrophy. (But that info is from the early

'90s and I don't know if it has been updated) There is one medical article from

Feb. 2010 about it, but more about the genetics of it. Below is the research

abstract. You may want to contact the authors of the paper directly.

Here is a link to another paper on 2D - mostly genetic medical-speak.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2707104/?tool=pubmed

And another http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180282/?tool=pubmed

You can make yourself crazy with all of this science stuff. All of us with CMT

or those who have children with CMT sort of 'learn by doing', or at least my

parents and I did (no internet then, no support groups, no genetic testing) My

parents and doctors just treated symptoms as they occurred, me having CMT was

never made a big deal at home, my life just went on and on, school, U and Grad

U, career, some physical therapy, swimming and beach walking for exercise, etc.

Try to relax and slowly absorb the information. here (MommyToAdam) is a

mom of 5, 3 with CMT, and can be of great help to you.

Gretchen

--------------------------------------------------------------------

GARS axonopathy: not every neuron's cup of tRNA. Trends Neurosci. 2010

Feb;33(2):59-66.

Motley WW, Talbot K, Fischbeck KH.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke

(NINDS), National Institutes of Health (NIH), 35 Convent Drive, Bethesda, MD

20892-3705, USA.

Abstract

Charcot-Marie-Tooth disease type 2D, a hereditary axonal neuropathy, is caused

by mutations in glycyl-tRNA synthetase (GARS). The mutations are distributed

throughout the protein in multiple functional domains. In biochemical and cell

culture experiments, some mutant forms of GARS have been indistinguishable from

wild-type protein, suggesting that these in vitro tests might not adequately

assess the aberrant activity responsible for axonal degeneration. Recently,

mouse and fly models have offered new insights into the disease mechanism. There

are still gaps in our understanding of how mutations in a ubiquitously expressed

component of the translation machinery result in axonal neuropathy. Here, we

review recent reports, weigh the evidence for and against possible mechanisms

and suggest areas of focus for future work.

[Guest guest]

It is commonly diagnosed at that time because that's when people realize

something is different about them (they can't run as fast as others, etc.). It

is a congenital disease and the symptoms are normally there from birth if a

person knows what to look for.

>

> Thanks for the welcome!  I'm still taking all of the information in.  I'm just

upset that there isn't more information.

>

> My understanding from what I have read, the CMT2d is normally diagnosed

between the ages of 15 & 30, so the girls neuro-muscular specialist is

dumbfounded that they were diagnosed at such a young age.

>

[Guest guest]

My husband was diagnosed at the age of 60. My stepson at 54 has the feet

but no other symptoms and isn't interested in finding out. My husband's

gene test, repeated in 2009, was negative. The doctors didn't even agree as

to which type he had. His last doctor in Santa Barbara was sure it was

Type 1 but the UCLA MDA clinic thought type 2. I'm not sure it matters, but I

am curious. Elinor