Re: Hereditary Spastic Pareparesis

[Guest guest]

Hi Kim,

OK how exactly were you diagnosed with CMT? EMG/NCV only, or skin biopsy or DNA

testing? Do you have any family history with spascity, muscle weakness in lower

legs?

Have you seen this? Have you had the DNA testing for it?

http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spas\

tic_paraplegia.htm

and this http://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia

There are some genetic tests for HSP too.

I was first diagnosed with CMT by watching me walk. About 5 years later I had my

first EMG/NCV. (I just recently had a short chance to look at old medical

records from the '60s, and learned the results were normal) Same thing with

another EMG/NCV a year later and again in 1998.

Ever since 1964 when I was evaluated by the docs at UCLA, each one had a

different idea of what I had: the list is endless - MD, MS, cancer (go figure

with that one) Frederich's Ataxia ad infinitum. And everyone was baffled by no

family history. And in my teens I had bad spaciscity, but that stopped by the

time I went to college.

Long story short, I am 58, have not had DNA testing, however my normal EMG/NCVs

indicate I may have an axonal type of CMT. (Type 2) With no family history this

puts me at 1)a recessive inheritance 2)an unknown mutation, or 3) " some kind of

neuropathy " as my recent neurologist says. I am up and around and on the go

daily, very active, just have these tremors which are controlled by medication.

If the scooter or wheelchair would make your life easier and not put so much

stress on your body movement, by all means conserve your energy.

There's still so much we don't know about all these disorders.

Gretchen

[Guest guest]

Hi Kim,

I'm your age and use a scooter outside the house.  Personally, I haven't

seen the 'age' issue the sales person mentioned.  I see lots of people,

of all ages, using scooters.  Could she be directing you to a more expensive

product? 

For me, the more important factors are: cost/what will insurance cover,

what will be easier to transport, what is most comfortable, what is

easier to use now and in the future, and what is most practical for your

needs.

When I originally purchased my scooter years ago, I got it because it

was easier to get in and out of the trunk of my car and it was less

expensive than a chair.  Now, I have a van with a lift, so I'm thinking

about changing to a chair.

What I like about the scooter is that I can carry quite a few things in

the front/back baskets when shopping.  What I don't like about it is the

turning radius and it's painful on my back when going over bumps (since

it's the lightweight portable type).  I need something more heavy duty

now, with better suspension.

So, what type should you get?  It really depends on your own individual

needs and circumstances.  Either one could be of great assistance in

energy conservation.

From: drizzt746 <drizzt746@...>

Subject: Hereditary Spastic Pareparesis

Date: Friday, December 10, 2010, 12:40 PM

 

Hello All,

It has been a long time since I have posted, but I read the daily posts and

feel better knowing that I am part of a group - part of something where others

understand. My point - a few yers ago after years of trying to figure out what

was wrong with me I finally received the closest thing I knew to be an answer

CMT, I received this diagnosis based on a clinical diagnosis through MDA and

some of my physicians. My EMG's and Nerve conductor studies have always come

out on the low end of normal if that makes sense. I learned through this group

that others in the group also had experienced normal emgs/nerver conductor

studies as well.

Now fast forward, I have been having more difficulty walking, tripping falling

with my afo's and increased numbness further up into my quads/thighs. After my

latest fall on hard concrete last week (did a lovely number on my knees) I

called my orthopedist - he suggested that I make an appointment with my

neurologist which I did.

Yesterday I met with my neurologist, who I have not seen in three years. He is

a very good physician and a very patient man (who spent almost 2 hours with me.)

He watched me walk and saw that even with the braces I still exhibit a high

steppage gait, he reviewed my history, my concerns examined me and then said " I

don't believe you have CMT, I think you have hereditary spastic pareparesis. "

" Huh? What did you say? " I went into the same tailspin I did when I heard CMT

and did not know what it was. He explained it to me in detail, but basically

heard nothing, so I came home and immediately went on line to research. Here is

a lttle of what I found:

HSP is a progressive condition and usually starts in the legs and spreads to

other muscles, the prognosis for individuals with HSP varies greatly. Some cases

are seriously disabling while others are less disabling and are compatible with

a productive and full life. The majority of individuals with HSP have a normal

life expectancy.

Obviously there is much more and my doctor thinks that I have what is known as

pure form which is better. He wants me to see another neurologist/specialist to

see if we can figure it out. There are thing I exhibit that would be more in

line with the HSP diagnosis, including over toned muscle, little atrophy, hyper

reflexes, but I have also talked to people with cmt, who have not experienced

too much atrophy or loss of muscle tone. Needless to say

I am confused.

Last night I told my husband how upset I am by this possibility. The neurologist

and my hubby (a scientist) both explained to me that putting a different name on

it is not going to change what I am dealing with symptom wise for the most part

- and although part of that reasoning makes sense to me - here is what is really

upsetting to me . . . when I received the clinical diagnosis of CMT, I was

accepted by this group, I joined CMTA, I have volunteered for the MDA and I was

embraced by the many kind people in the group. My podiatrist has even refered

patients who are diagnosed to talk to me about CMT and now I am being told I may

have something else. The best analogy is that I feel the way maybe someone

would feel if they found out their family was not really their family!

I will not be seeing the next doctor until after the first of the year, so I

feel somewhat displaced. I feel like I did before I had my CMT diagnosis. Has

anyone else experienced this?

Also, one other question - the neurologist wants me to get a scooter for my job

and for trips, etc . . . he feels that I should walk and exercise, which I do,

but he feels because I am constantly running with my job, etc . . he thinks it

is important that I utilize a scooter for day trips/travel and work. Today, the

woman I talked to at the medical equipment company thought I would do better

with a compact power chair. She felt that is a better look for a younger person

(I liked that even though I am 46!) For those of you who use a wheel chair power

chair or scooter what do you think. I definately want a compat model for

whatever I choose!

Thanks for listening - just really needed to vent!

Have a wonderful weekend!

Kim