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Rare Undiagnosed neurological condition

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Unread 01-28-2013, 09:29 AM   #1
ukgirl25
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Confused Rare Undiagnosed neurological condition

Hi All, my first post here.

My doctors are positive I have a progressive neurological condition of some sort. They are learning towards a genetic cause, but apparently my set of symptoms is not all that straightforward as I have a mix of upper and lower motor neuron signs. I have foot defortmities, spasticity, weakness, gait problems which can progressive very suddenly and then improve slightly.
I have a few beats of clonus in my ankle. Cold extremties. Reduced sensation in the pin prick test in my feet. I also have some muscle wasting in my extremties which is getting worse. My reflexes are hyperactive too.

The problem is also in my hands it seems, when I was younger I had weak hands and I still do....I am having increasing problems with fastening buttons on my daughters clothes. My fingers are starting to bend...it's hard to straighten my fingers and in the cold they claw up even worse.

Basically what I have is rare apparently...mild symptoms have gone back to childhood but it was in my teens it started to progress and then again it got worse after the birth of my daughter.

I have had a clean MRI all the tests for genetic disorders have come back negative so far...have been tested for Fredreich's ataxia, common forms of Hereditory Spastic Paraplegia,...also various other tests for possible causes seem to draw a blank. At first my doctor seemed to think I had Hereditory Spastic Paraplegia, but now he is not sure as I have additional symptoms that due not fit with HSP. A possible diagnosis of Charcot Marie Tooth has been mentioned although once again my symptoms do not fit well with CMT either. Even a crossover mix of HSP / CMT has been mentioned but again this is even rarer.

No one in my family has feet like mine, although my brother is having slightly different neurological issues oddly enough.

Will try to get 10 posts so I can post photos of my dodgy feet,]

Any ideas what on earth this could be?

Thanks
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Frostbite (01-28-2013)
Unread 01-28-2013, 10:43 AM   #2
Kitt
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There is DNA testing for CMT. It is very expensive. There are many many types of CMT. The most common type is CMT 1A. It has a duplication where HNPP has a deletion.

Scroll down to the PN site. There is a spot to click on for PN Tips, Resources, Supplements and Other Treatments. If you go down a ways you will find my posts concerning CMT and HNPP.

The fact that your feet are different does not mean that you do not have CMT. CMT feet can look normal, flat footed, high arches, or one high and one low.

You say you mention Frederick's Ataxia is interesting. That's one disease that CMT is often misdiagnosed as. From what you say about your brother it certainly can be in your family. You can be young, old, or in-between before any symptoms might occur. Or they may never be evident at all but you still can have CMT.

CMT symptoms vary greatly even within the same family. I hope you find the answer.
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"It is what it is, it's not what it was, it's not what it could have been, it is what it is."

Charcot-Marie-Tooth Syndrome (CMT) The Curse.

AKA Hereditary Motor Sensory Neuropathy (HMSN).

"I was once like you and you will be like me."

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Unread 01-28-2013, 06:09 PM   #3
ukgirl25
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Hi, thank you for the information. I will check out the PN section.

You are correct...the foot deformities don't automatically mean I have cmt, although my foot and legs look like typical cmt feet which is what has confused my doctors. I have the high arches and weak ankles, along with muscle wasting that looks similar to cmt, its in both my legs.
But whereas most cmters have weak muscles, the only clinical weakness I have is in my toes and ankles ....the rest of my muscles are spastic.

So basically I have an odd mix of upper and lower signs which usually occurs in Motor neutron disease, although my neurologist says he doesn't believe I have MND, which I agree with.
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Kitt (01-28-2013)
Unread 01-29-2013, 02:15 PM   #4
Kitt
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Default CMT feet pictures and hands

Here are some pictures of feet and hands due to CMT. However, as I posted, not everyone has feet or hands like this. The feet can be normal looking, etc.

https://www.google.com/search?q=char...w=1067&bih=523
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Kitt

"It is what it is, it's not what it was, it's not what it could have been, it is what it is."

Charcot-Marie-Tooth Syndrome (CMT) The Curse.

AKA Hereditary Motor Sensory Neuropathy (HMSN).

"I was once like you and you will be like me."

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Unread 01-29-2013, 07:51 PM   #5
ukgirl25
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Thanks for that, Kitt. My feet look pretty much EXACTLY like many of those cmt feet in every respect....the muscle wasting, high arches and curled up toes, my feet also turn inwards. ...although my deformity is most obvious when I'm not weight bearing on my feet, its still there whilst weight bearing, quite often I find myself standing on the outside of my foot with my ankle twisted in. For a while I was only able to walk on the outside edge of my feet. Then I started to gradually walk with my foot more turned in, my boyfriend noticed that my left foot started turning in. I definitely do not have classic foot drop as I can lift my feet up...its just when i walk lots of the time my spastic muscles take over so I end up walking with turned in feet and shuffling along. It feels as though there are weights on my legs, they feel heavy. This is spasticity apparently.
My neurologist has commented on the fact that I have pes cavus.

Forgot to mention that although my hands are not as severe, my fingers are definitely starting to claw up in similar way to someone with cmt...it very much looks like my hands are starting to go the same way as my feet...obviously hoping they don't get as ugly as my feet., at least I can hide my feet.
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Unread 01-30-2013, 10:03 AM   #6
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Hi, With foot drop a person can trip over their toes. However, sometimes that doesn't happen if the foot drop isn't that bad. I have some but not to the point of tripping over my toes. I wear AFO's now for almost two years. I use a cane and an arm when out. Otherwise, I touch the counters, walls, doorways, furniture - you name it when I'm home. I can tell I am progressing though. At some point I suppose I will need casted AFO's and wide shoes. The ones I have are called Toe Offs and they fit in your regular shoes. I still have ankle movement with these which I am grateful for. With casted ones you really don't. You do lose some good muscle with AFO's as well.

Can you stand on your tiptoes and can you stand on your heels. I haven't been able to stand on my tiptoes for 20 years however it never interfered with anything. Now with your hands clawing up that makes me wonder. Some have CMT symptoms which affect their hands and their feet. Others only their feet (that's me) and some only their hands. It is just different for anyone with CMT even within the same family. My legs feel heavy too. It's the process of lifting your legs and having muscle atrophy in some of the muscles. CMT is progressive and that is certainly true.

It really does sound like it could be a type of CMT. Hopefully, you will get to the bottom of it. Take care. Keep us posted.
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Kitt

"It is what it is, it's not what it was, it's not what it could have been, it is what it is."

Charcot-Marie-Tooth Syndrome (CMT) The Curse.

AKA Hereditary Motor Sensory Neuropathy (HMSN).

"I was once like you and you will be like me."

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Unread 01-30-2013, 07:20 PM   #7
ukgirl25
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Hi kitt, I'm sorry to hear that you are progressing. Neurological issues are hard to deal with.

I can walk on my tip toes very well, however, I cannot walk on my heels...I'm unable to walk in high heels and have major problems with footwear, most of the time I have to wear boots or anything which straps to my ankle.

The mystery of my condition deepens. I had an emg today which showed up some abnormalities, however, my emg has very much ruled out cmt type 1 and 2....so my doctor confirmed straight away that I do not have a common form of cmt. Although he did say it may be a more rare type.

He confirmed that it seems to be caused by problems in my central nervous system. He said my feet are very, very cold! my legs actually turned blue at one point during the test.

So he says I definately have something wrong but he said its like putting a jigsaw together....

So weird, I have muscle wasting, high arches, and so many other cmt symptoms, but I don't have a cmt, well certainly not the normal type anyway.
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Unread 01-31-2013, 10:14 AM   #8
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Hi, CMT progresses no matter what you do. There is no magic bullet as there is no treatment/cure for any type of CMT at the present time. However, much research is going on and hopefully one day there will be. Here is a site showing a lot of types of CMT. However, there are over 50 types at the present time and the number is growing.

http://www.ninds.nih.gov/disorders/c...arie_tooth.htm

Another list:

http://neuromuscular.wustl.edu/time/hmsn.html

I hope you get an answer. A neurologist who knows CMT might be very helpful. I'm not certain if that is who you are seeing although your neurologist does sound informed. Take care.
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Kitt

"It is what it is, it's not what it was, it's not what it could have been, it is what it is."

Charcot-Marie-Tooth Syndrome (CMT) The Curse.

AKA Hereditary Motor Sensory Neuropathy (HMSN).

"I was once like you and you will be like me."

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Unread 01-31-2013, 02:53 PM   #9
ConsiderThis
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Quote:
Originally Posted by Kitt View Post
Here are some pictures of feet and hands due to CMT. However, as I posted, not everyone has feet or hands like this. The feet can be normal looking, etc.

https://www.google.com/search?q=char...w=1067&bih=523
Wow, you have a LOT of pictures.

I thought you might be interested to hear that last year I could not lift my feet. Similar to when I had tetanus and it took me three steps to cross a foot-square Saltillo tile. I was really worried. But a lot of rest and very gradual exercise has made for amazing improvement.

Have you checked out the symptoms of low vitamin B12? B12 is often a factor in neurological problems.

Tetanus, as an aside, is a central nervous system disease.
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Do you know the symptoms of low vitamin B12.... ?
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Unread 02-01-2013, 10:19 AM   #10
Kitt
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Quote:
Originally Posted by ConsiderThis View Post
Wow, you have a LOT of pictures.

I thought you might be interested to hear that last year I could not lift my feet. Similar to when I had tetanus and it took me three steps to cross a foot-square Saltillo tile. I was really worried. But a lot of rest and very gradual exercise has made for amazing improvement.

Have you checked out the symptoms of low vitamin B12? B12 is often a factor in neurological problems.

Tetanus, as an aside, is a central nervous system disease.
Hi, CMT is hereditary. It is not from any low Vitamin B12 or the like. It is hereditary. There is no cure/treatment for it at the present time. Moderate exercise may be helpful for healthy muscles but not for atrophied, dead ones. Atrophied muscles, dead ones, is what happens to us. CMT affects the Peripheral Nervous System (PNS). That would be everything outside of the brain and spinal cord.

The pictures are on the Internet. They are from real people as far as I know. I have seen people who have hands and feet like these. They are not my pictures at all.

It is nice that you could get an amazing improvement with your problem.
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Kitt

"It is what it is, it's not what it was, it's not what it could have been, it is what it is."

Charcot-Marie-Tooth Syndrome (CMT) The Curse.

AKA Hereditary Motor Sensory Neuropathy (HMSN).

"I was once like you and you will be like me."

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