Dr. 's letter re NINDS website

[Guest guest]

(Note to ers: Greg sent me a copy of his letter regarding

the misinformation on the NINDS website for CMT. I thought you'd like

to read it and know just how a CMT doc feels about misinformation

like this. He includes notations of his research, plus the NINDS site

info. Let's hope the NINDS website will get revised with the correct

information. ~ Gretchen)

Dear NINDS,

Surfing the internet tonight, I was a bit surprised to see the

statements I have highlighted below on your website regarding Charcot

Marie Tooth disease. I think the folks that attend our MDA clinics

with CMT or have participated in our multi-center studies on pain and

quality of life would disagree. Interestingly, NINDS funds some of

that work! To the contrary of what your website implies, the VAST

majority of people with CMT have pain, and most of those have

significant pain, not just minor pain. People with CMT may have

significantly decreased quality of life.

With all due respect, the NINDS website makes CMT sound more like a

nuisance than a serious disease. Our studies would show that it is a

highly disabling condition that causes pain, weakness, atrophy,

sometimes breathing problems. You are doing a disservice to those

with CMT and those of us who study CMT (minimizing the disease

doesn't make it any easier to get grant money from an already

ridiculously competitive federal grant system.

Thanks. I'll look forward to your automated response in the

morning. If this somehow gets through to a real person, for whatever

it is worth, I have included some references for you.

Greg , MD

GT, Abresch RT, Fowler WM, ER, Kilmer DD, Mc CM,

NC. Profiles of neuromuscular disease: hereditary motor and

sensory neuropathy, types I and II. Am J Phys Med Rehabil 1995; 74

(5):S140-149 PMID:7576421 [PubMed – indexed for Medline]

GT, Kilmer DD, Bonekat HW, Lieberman JS, Fowler WM. Evaluation

of phrenic nerve and pulmonary function in hereditary motor and

sensory neuropathy, type I. Muscle Nerve 1992; 15:459-462

PMID:1565114 [PubMed – indexed for Medline]

GT. Phrenic nerve involvement in Charcot-Marie-Tooth disease.

Muscle Nerve 1995; 18:1215-1216 PMID:7659121 [PubMed – indexed for

Medline]

GT, Jensen MP, Galer BS, Kraft GH, Crabtree LD, Beardsley RM,

Abresch RT, Bird TD. Neuropathic Pain in Charcot Marie Tooth disease.

Arch Phys Med Rehabil 1998; 79:1560-4 PMID:9862301 [PubMed – indexed

for Medline]

Abresch RT, Jensen MP, GT. Health quality of life in

peripheral neuropathy. Phys Med Rehabil Clin N Am 2001; 12(2):461-

472 PMID:11345018 [PubMed – indexed for Medline]

Abresch RT, GT, Jensen MP, Kilmer DD. Assessment of pain and

health-related quality of life in slowly progressive neuromuscular

disease. Am J Hosp Palliat Care 2002; 19(1):39-48 PMID:12173612

[PubMed – indexed for Medline]

From the NINDS website:

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited

neurological disorders, affecting approximately 1 in 2,500 people in

the United States. The disease is named for the three physicians who

first identified it in 1886 - Jean- Charcot and Pierre Marie in

Paris, France, and Henry Tooth in Cambridge, England. CMT,

also known as hereditary motor and sensory neuropathy (HMSN) or

peroneal muscular atrophy, comprises a group of disorders that affect

peripheral nerves. The peripheral nerves lie outside the brain and

spinal cord and supply the muscles and sensory organs in the limbs.

Disorders that affect the peripheral nerves are called peripheral

neuropathies.

What are the symptoms of Charcot-Marie-Tooth disease?

The neuropathy of CMT affects both motor and sensory nerves. A

typical feature includes weakness of the foot and lower leg muscles,

which may result in foot drop and a high-stepped gait with frequent

tripping or falls. Foot deformities, such as high arches and

hammertoes (a condition in which the middle joint of a toe bends

upwards) are also characteristic due to weakness of the small muscles

in the feet. In addition, the lower legs may take on an " inverted

champagne bottle " appearance due to the loss of muscle bulk. Later in

the disease, weakness and muscle atrophy may occur in the hands,

resulting in difficulty with fine motor skills. Although sensory

nerves are also involved, patients rarely notice significant numbness

or pain.

Onset of symptoms is most often in adolescence or early adulthood,

however presentation may be delayed until mid-adulthood. The severity

of symptoms is quite variable in different patients and some people

may never realize they have the disorder. Progression of symptoms is

very gradual. CMT is not fatal and people with most forms of CMT have

a normal life expectancy.

[Guest guest]

Thanks for passing this along. I'm proud of Dr.

's initiative. I've long been reluctant to

forward the NINDS' information on CMT to my family,

supervisors, or company because of its inaccuracies.

In the future (assuming that the don't change

anything), I'll have Dr. 's information to add

to

it when explaining the disease to others.

gfijig wrote:

> (Note to ers: Greg sent me a copy of his

letter regarding

> the misinformation on the NINDS website for CMT. I

thought you'd like

> to read it and know just how a CMT doc feels about

misinformation

> like this. He includes notations of his research,

plus the NINDS site

> info. Let's hope the NINDS website will get revised

with the correct

> information. ~ Gretchen)

>

> Dear NINDS,

>

> Surfing the internet tonight, I was a bit surprised

to see the

> statements I have highlighted below on your website

regarding Charcot

> Marie Tooth disease. I think the folks that attend

our MDA clinics

> with CMT or have participated in our multi-center

studies on pain and

> quality of life would disagree. Interestingly,

NINDS funds some of

> that work! To the contrary of what your website

implies, the VAST

> majority of people with CMT have pain, and most of

those have

> significant pain, not just minor pain. People with

CMT may have

> significantly decreased quality of life.

>

> With all due respect, the NINDS website makes CMT

sound more like a

> nuisance than a serious disease. Our studies would

show that it is a

> highly disabling condition that causes pain,

weakness, atrophy,

> sometimes breathing problems. You are doing a

disservice to those

> with CMT and those of us who study CMT (minimizing

the disease

> doesn't make it any easier to get grant money from

an already

> ridiculously competitive federal grant system.

>

> Thanks. I'll look forward to your automated

response in the

> morning. If this somehow gets through to a real

person, for whatever

> it is worth, I have included some references for

you.

>

> Greg , MD

>

>

>

> GT, Abresch RT, Fowler WM, ER, Kilmer

DD, Mc CM,

> NC. Profiles of neuromuscular disease:

hereditary motor and

> sensory neuropathy, types I and II. Am J Phys Med

Rehabil 1995; 74

> (5):S140-149 PMID:7576421 [PubMed – indexed for

Medline]

>

> GT, Kilmer DD, Bonekat HW, Lieberman JS,

Fowler WM. Evaluation

> of phrenic nerve and pulmonary function in

hereditary motor and

> sensory neuropathy, type I. Muscle Nerve 1992;

15:459-462

> PMID:1565114 [PubMed – indexed for Medline]

>

> GT. Phrenic nerve involvement in

Charcot-Marie-Tooth disease.

> Muscle Nerve 1995; 18:1215-1216 PMID:7659121

[PubMed – indexed for

> Medline]

>

> GT, Jensen MP, Galer BS, Kraft GH, Crabtree

LD, Beardsley RM,

> Abresch RT, Bird TD. Neuropathic Pain in Charcot

Marie Tooth disease.

> Arch Phys Med Rehabil 1998; 79:1560-4 PMID:9862301

[PubMed – indexed

> for Medline]

>

> Abresch RT, Jensen MP, GT. Health quality of

life in

> peripheral neuropathy. Phys Med Rehabil Clin N Am

2001; 12(2):461-

> 472 PMID:11345018 [PubMed – indexed for Medline]

>

> Abresch RT, GT, Jensen MP, Kilmer DD.

Assessment of pain and

> health-related quality of life in slowly progressive

neuromuscular

> disease. Am J Hosp Palliat Care 2002; 19(1):39-48

PMID:12173612

> [PubMed – indexed for Medline]

>

>

> >From the NINDS website:

>

> What is Charcot-Marie-Tooth disease?

>

> Charcot-Marie-Tooth disease (CMT) is one of the most

common inherited

> neurological disorders, affecting approximately 1 in

2,500 people in

> the United States. The disease is named for the

three physicians who

> first identified it in 1886 - Jean- Charcot

and Pierre Marie in

> Paris, France, and Henry Tooth in Cambridge,

England. CMT,

> also known as hereditary motor and sensory

neuropathy (HMSN) or

> peroneal muscular atrophy, comprises a group of

disorders that affect

> peripheral nerves. The peripheral nerves lie outside

the brain and

> spinal cord and supply the muscles and sensory

organs in the limbs.

> Disorders that affect the peripheral nerves are

called peripheral

> neuropathies.

>

>

> What are the symptoms of Charcot-Marie-Tooth

disease?

>

> The neuropathy of CMT affects both motor and sensory

nerves. A

> typical feature includes weakness of the foot and

lower leg muscles,

> which may result in foot drop and a high-stepped

gait with frequent

> tripping or falls. Foot deformities, such as high

arches and

> hammertoes (a condition in which the middle joint of

a toe bends

> upwards) are also characteristic due to weakness of

the small muscles

> in the feet. In addition, the lower legs may take on

an " inverted

> champagne bottle " appearance due to the loss of

muscle bulk. Later in

> the disease, weakness and muscle atrophy may occur

in the hands,

> resulting in difficulty with fine motor skills.

Although sensory

> nerves are also involved, patients rarely notice

significant numbness

> or pain.

>

> Onset of symptoms is most often in adolescence or

early adulthood,

> however presentation may be delayed until

mid-adulthood. The severity

> of symptoms is quite variable in different patients

and some people

> may never realize they have the disorder.

Progression of symptoms is

> very gradual. CMT is not fatal and people with most

forms of CMT have

> a normal life expectancy.

>

>

>

>

>

>

>

>

>

>

>

>

>

>