Re: Questions About CMT1A

[Guest guest]

Dena,

Yes, small children can receive a CMT 1A diagnosis. You mentioned a 'late

onset', which is confusing. Did you mean 'early onset', since your daughter was

diagnosed a year ago? CMT does not include developmental disabilities.

Gretchen

[Guest guest]

Hi Dena,

 

If the issues in her hands and legs are related to weakness, it seems possible

to me that this could be CMT1A related.

 

I have CMT1A.  I was late to crawl and to walk.  I'm 46 now and just found out I

have CMT a few years ago, so no one knew what was wrong when I was little.  The

doctors just told my parents I was a 'lazy baby'.  Once I did get walking, it

was always a family joke that I could trip over nothing but my own two feet. 

Never very coordinated or athletic.  Evidence of foot deformity (pes cavus,

tightening of achilles, etc.) didn't start until about age 6-7.

 

 

[Guest guest]

No they said the type of CMT she has is late onset, doesn't present until 35-50

years of age, but I think she is showing symptoms now. They think that her

problems with her feet and ankles even her knees is caused by something else but

they don't know what. I personally feel it is related to her diagnosis.

Dena

>

> Dena,

>

> Yes, small children can receive a CMT 1A diagnosis. You mentioned a 'late

onset', which is confusing. Did you mean 'early onset', since your daughter was

diagnosed a year ago? CMT does not include developmental disabilities.

>

> Gretchen

>

No they said the type of CMT she has is late onset, doesn't present until 35-50

years of age, but I think she is showing symptoms now. They think that her

problems with her feet and ankles even her knees is caused by something else but

they don't know what. I personally think it is related to her diagnoses.

[Guest guest]

Dena,

See if you can find a pediatric neurologist, I hope such a specialty exists,

Gretchen would know more about this. A regular ped may not know any more about

CMT than many of the family practice guys know about the adult disease. I think

the earlier she is seen by a specialist who understands her condition, the

better. Then I would think that both doctors could work together to manage her

care. The CMTA website has a lot of info about kids & families dealing with

CMT, I've often found that to be a useful resource. I wish you the very best.

Jeanne

[Guest guest]

Dena,

I was diagnosed when I was 3 with CMT. The developmental delays are the reason

my parents went looking for an answer. So I feel your doctor is wrong, it is

part of the CMT.

T.

[Guest guest]

Gretchen,

I don't think she's referring to developmental disabilities.. she's referring to

developmental delays. I agree with her that CMT can cause delays since my

parents experienced them with me. It doesn't mean that her child won't get

there. It means her child will get there on their own time table.

T.

[Guest guest]

Hi Dena!

I agree completely that you should think about seeing a Pediatric Neurologist if

you haven't done so already. We have a fabulous one here in Orlando, and there

are other outstanding ones sprinkled all over the country. I am curious, if I

missed it I am sorry, but have you had the genetic testing done, or is your

daughter being diagnoses based on symptoms?

If I'm understanding your responses correctly - what your daughter is

experiencing is an early onset of what is usually a late onset diagnosis. There

are several forms of CMT that don't become evident until later in life.

My son was a little late to walk, very late to potty train and by the time he

was 3 1/2 or 4 I knew something was really wrong because of the way he walked.

It took over 5 years to get an actual diagnosis and to find the right medical

team. Unfortunately, his CMT has progressed at an alarming rate compared to what

we originally anticipated. Every person is affected so differently by this

disease that you just have to go with the flow,find a doctor you trust and

believe in, make a plan for care and do the best you can to be flexible when it

throws your daughter a curveball.

Keep us posted!

[Guest guest]

Jeanne,

We have seen every doctor poss. ped. neuro, neuro-muscular, genetics,

orthopedics, gastro, developmental ped. I don't know what other doctors to try

we have been to the top childrens hospital in the nation " Childrens Hospital of

Philadelphia " and still no answers.

Dena

[Guest guest]

Dena,

I'm sure by this time you're sick of all the doctors, but I'd like to suggest a

visit to Dr. Shy and his team at Wayne State University. The man is a CMT expert

and a very caring man. Below is his Bio. You may also want to enroll in the CMT

Database and learn about participation in research on 1A.

Gretchen

BIOSKETCH

E. Shy, MD, is Director of the Charcot-Marie-Tooth (CMT) Clinic and

Codirector of the Neuromuscular Program at Wayne State University, Detroit, MI.

He has published extensively on inherited disorders of the peripheral nervous

system. Dr. Shy was the chief organizer of the International Charcot-Marie-Tooth

Consortium held in

Snowbird Utah in 2007. Dr. Shy is the Chair of the Charcot-Marie-Tooth

Association Medical Advisory Board. He also serves on the Board of Directors of

the Peripheral Nerve Society (PNS) and is a member of the Medical Advisory

Committee for the Muscular Dystrophy Association (MDA). Dr. Shy is listed in the

publications Best Doctors in America and Top Docs. He serves on the Editorial

Board of the Journal of the

Peripheral Nervous System. Dr. Shy's research has been, and is currently, funded

by a variety of external sources including the National Institutes of Health,

the Multiple Sclerosis Society, the Muscular Dystrophy Association, and the

Charcot-Marie-Tooth

Association. Dr. Shy received his medical degree from Albany Medical College and

did his neurology training and fellowship training in neuromuscular diseases at

Columbia Presbyterian Medical Center in New York.

[Guest guest]

Dena - 1 really important thing I forgot to mention - in my experience - Go with

your gut Mom! If you think what's happening with your daughter is related to

her diagnosis, don't dismiss it because a doctor tells you so. I'm not

suggesting though that you shop around until you find someone who agrees with

you either. I'm just saying that I believe that instincts are strong when it

comes to our kids. If you are confident that all the specialists you've seen

thus far know enough about CMT and have had actual hands on experience with CMT

in pediatric cases and have told you it's not the CMT, then it may not be.

However if they don't have a strong background in CMT it may require a little

further investigation on your part.

Just my 2 cents worth.

>

> Hi Dena!

>

> I agree completely that you should think about seeing a Pediatric Neurologist

if you haven't done so already. We have a fabulous one here in Orlando, and

there are other outstanding ones sprinkled all over the country. I am curious,

if I missed it I am sorry, but have you had the genetic testing done, or is your

daughter being diagnoses based on symptoms?

>

> If I'm understanding your responses correctly - what your daughter is

experiencing is an early onset of what is usually a late onset diagnosis. There

are several forms of CMT that don't become evident until later in life.

>

> My son was a little late to walk, very late to potty train and by the time he

was 3 1/2 or 4 I knew something was really wrong because of the way he walked.

It took over 5 years to get an actual diagnosis and to find the right medical

team. Unfortunately, his CMT has progressed at an alarming rate compared to what

we originally anticipated. Every person is affected so differently by this

disease that you just have to go with the flow,find a doctor you trust and

believe in, make a plan for care and do the best you can to be flexible when it

throws your daughter a curveball.

>

> Keep us posted!

>

>

>

[Guest guest]

Hi Dena,

 

With CMT1A, nearly all patients have some symptoms in childhood.  Late onset of

35-50 years old is rare.  The symptoms are usually present early on, but

progress slowly over decades.  There is, however, a wide variation of how the

disease can present in different people.

 

Unfortunately, many doctors don't have a complete picture of the wide array of

symptoms that can occur with CMT, requiring us to do some research ourselves and

share it with our physicians.

 

Dr. Bird has studied CMT extensively.  I like to refer to his postings on

the NIH website when I have questions.  Here's his description of clinical

symptoms for Type 1 CMT.  Note his reference in the first paragraph to " delayed

walking " as being a possible problem for infants.  I hope this helps.  Good luck

in finding a doctor you can trust and some answers for your daughter.

 

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=cmt1

Clinical Description

Natural History

Classic CMT1 phenotype. Individuals with CMT1 usually become symptomatic between

age five and 25 years [Marques et al 2005, Houlden & Reilly 2006]; age of onset

ranges from infancy (resulting in delayed walking) to the fourth and subsequent

decades. Clinical severity is variable, ranging from extremely mild disease that

goes unrecognized by the affected individual and physician to considerable

weakness and disability.

 

The typical presenting symptom of CMT1 is weakness of the feet and ankles. The

initial physical findings are depressed or absent tendon reflexes with weakness

of foot dorsiflexion at the ankle. The typical adult individual has bilateral

foot drop, symmetrical atrophy of muscles below the knee (stork leg appearance),

atrophy of intrinsic hand muscles, and absent tendon reflexes in both upper and

lower extremities.

 

Proximal muscles usually remain strong.

 

Mild to moderate sensory deficits of position, vibration, and pain/temperature

commonly occur in the feet, but many affected individuals are unaware of this

finding. Pain, especially in the feet, is reported by 20%-30% of individuals

[ et al 1998, Gemignani et al 2004, Carvalho et al 2005]. The pain is

often musculoskeletal in origin but may be neuropathic in some cases.

 

Episodic pressure palsies have been reported [Kleopa et al 2004].

 

In CMT1A, prolonged distal motor latencies may already be present in the first

months of life, and slow motor nerve conduction velocities (NCVs) have been

found in some individuals by age two years [Krajewski et al 2000]. However, the

full clinical picture may not occur until the second decade of life or later

[ et al 1998]. In a study of 57 individuals with CMT1A, three had floppy

infant syndrome, two had marked proximal and distal weakness (one requiring a

wheelchair), one had severe scoliosis, five had calf muscle hypertrophy, and

three had hand deformity [Marques et al 2005].

 

Some individuals with CMT1B have onset in the first decade of life; others have

a much later onset. The age of onset trend tends to run true in families

[Hattori et al 2003].

 

CMT1 is slowly progressive over many years. Affected individuals experience long

plateau periods without obvious deterioration [Teunissen et al 2003]. NCVs slow

progressively over the first two to six years of life and are relatively stable

throughout adulthood. Early onset of symptoms and severity of disease show some

correlation with slower NCVs, but this is only a general trend. Muscle weakness

correlates with progressive decrease in the compound muscle action potential

(CMAP) and suggests that developing axonal pathology is of considerable clinical

relevance [Hattori et al 2003, Pareyson et al 2006].

 

The disease does not decrease life span.