Possible CMT NEFL Gene Mutation

[KAGarcia]

Hello! I have a quick question for diagnosed CMT with specific NEFL mutation. Apparently, they gave me a VUS on testing and are now testing my mom. I have SFN and pain in ankles/progressed hand weakness/difficulty walking for longer than 15min/ I can no longer run/ weakness from sitting to standing position/ hand tremors with any prolonged activity (like walking or once normal activities). Anyone have a specific NEFL mutation??!

[Caroleanne-2468]

Hi , i was diagnosed with having 1E which apparently is very rare. It took a while to get the results through .

It seems very much like you say as far as symptoms go. Good luck.

[KAGarcia in reply to Caroleanne-2468]

Thank you for responding. We’re hoping to get confirmation soon. Ty!

[Ilsesmi]

I have exactly the same symptoms. I was diagnosed with CMT type one. I’m sorry to say that it get worse over the years. What is NEFL?

[KAGarcia in reply to Ilsesmi]

NEFL is one of the 80 genes that is tested during a thorough evaluation genetic lab test. They have never seen my specific dna coding so they have to do family testing now. That’s why I’m searching for people that know their exact dna coding results- someone similar or at least with NEFL gene effected???? I was hoping I wasn’t the only one.

[Patricia2015]

I have the same symptoms and atrophy in distal limbs. I have no diagnosis. What was the reason they did genetic testing? Was your EMG and NCV abnormal?

[KAGarcia in reply to Patricia2015]

EMG was not diagnosable so since I’m relatively young my Neuro pushed for skin biopsy

[KAGarcia]

I had numbness in toes off and on and constant visible muscle twitching and pain progresssed to both feet which made it difficult to rise first thing in morning and after prolonged sitting and shocks etc. intolerance of heat/cold but this pain was due to SFN diagnoses by skin biopsy. Since I’m not diabetic or have any other disorder the other symptoms and SFN caused for further genetic testing. I also can’t use my hands as much so have braces for both hands and will be seeing orthopedic for ankle pain etc.

[Patricia2015]

Thank you for your reply and I am so sorry to hear of your troubles!

Since a few years I can only walk on custommade orthopedic shoes and now I will receive silversplints for my hands and wrists. I have the same walking limitations and terrible pains in my lower legs and ankles and feet as you but I can still use my hands although my strength is really diminishing quickly. I got lots of atrophy in my distal limbs. I also have intolerance of heat and cold but in a different matter (have Lupus like diagnosis). I do have neuropathy in my distal limbs.

I am 43 so older then you are. I had NCV and EMG a few years ago and they were normal then.

What kind of test did you have after the skin biopsy?

[KAGarcia in reply to Patricia2015]

Patricia: I reread this forum and realized we both have tons of hypermobility. I have hand braces and ankle braces and use KT tape on my back. I have intolerance to heat and cold. Do you have CMT or connective tissue disorder?

[Patricia2015 in reply to KAGarcia]

Hi!

I have a connective tissue disease: Lupus-like syndrome with scleroderma/myositis overlap. My consultant prescribes only the immunomodulator Plaquenil. I don't take this medicine so now I only take pain medication for it.

I also have hyper mobility but not generalized and am being currently tested for Ehlers-Danlos.

I have heat intolerance, extreme fatigue attacks and also photo sensitivity. I cannot take cold either very well because of Raynauds

[KAGarcia in reply to Patricia2015]

Thank you so much for the information. Did they find this all out thru routine labs or was a biopsy of the muscle required?

[Patricia2015 in reply to KAGarcia]

Not routine labs but autoimmune blood panels, urine tests and skin biopsy. Skin biopsy only showed non-specific inflammation.

[Patricia2015 in reply to KAGarcia]

Hi!

How are you doing now?

I recently had loads of tests for diagnosing Small Fiber Neuropathy. The also took one skin biopt on the outside of my right lower leg 10 cm above my ankle. Results will be back in 6 weeks.

Could you please tell me with which tests you have been diagnosed with CMT?

[KAGarcia in reply to Patricia2015]

Hi! I’ve been really sick lately. Apparently, I have MCAS on top of the Ehlers Danlos and Neuropathy and possible antibody disorder. I never in my life thought that I could be this sick at this age. Sometimes I still don’t believe it. I believe it’s genetic testing for CMT the Neurologist has to send to a special lab for genetic testing.

[Patricia2015 in reply to KAGarcia]

I am sorry you are suffering 😥.

These chronic diseases as any autoimmune disease, EDS or SFN all can ruin our lives.

Do you have someone close to you who can help you?

My neuro told me my EMG was good so I did not get genetic testing for CMT.

[Patricia2015 in reply to KAGarcia]

Hi!

How are you doing now?

I am also sick since about 8 weeks, the flu won't pass :-(.

I got the result from my biopsy back, I have strongly reduces small nerve fibers, less then the average person above 80 :-0. This is hallmark for SFN. My TTT was also divergent from normal values.

The formal diagnosis will follow in January, they also done some genetic testing.

[KAGarcia]

I have extensive evaluation of CMT thru genetic lab. I’m also on a long waiting list to see a geneticist at Baylor in Houston. So along with CMT possible CTD(connective tissue disorder) as well:

[Blubabycakes]

I have a abnormal nefl gene. But I also have 2 other genes. The aars and dsp gene . Which means I have 2 forms of cmt disease and dsp gene causes heart problems. I do know the variation of all 3 genes of that helps you

[KAGarcia]

Thank you so much for taking time to reply. Did a Neurologist do lab work or did you see a geneticist?

[Blubabycakes in reply to KAGarcia]

I seen a geneticist because local doctor was looking for mitochondria disease. Not that he knew what he was doing. That's why I had a genome Sequencing test done looking for anything related to symptoms . Having 3 different genes nothing seems to be normal with me.

[Blubabycakes]

Do you know your variation. Mine is vus also no research. I my feet ,legs, nerve conduction testing all say CMT. Genes just says with one one cause the problem

[KAGarcia in reply to Blubabycakes]

Due to having a VUS and no parent having this mutation they will not say definitely CMT. Therefore, I have to wait until enough people have this specific NEFL mutation with CMT in order for them to call me or send me a latter stating that it’s been researched and this mutation is in accordance with CMT2E. They say that when this happens thenni will get a call front the genetic lab but this lab is horrible. They fail to give me any information. I am currently on a waiting list at Baylor Medical to see an actual geneticist and rule out connective tissue disorders since I also have hyper mobility and muscle weakness and muscle twitching 24:7. It’s been a long road and tough battle to finally know as much as I do.

[Blubabycakes in reply to KAGarcia]

I can totally understand I was 56 years old before know what was wrong. I had heart problems all life without knowing why and everything was blamed on it . My mom has the same 3 genes. They called her fibromyalgia. I see other relatives that probably has it but since it's rare and in my case a milder variation no one figure it out or seems to even care. I had 2 doctors tell me without the drug pacerone? I wouldn't know either very toxic to cmt people.. when you say Baylor medical is that in Texas?

[KAGarcia in reply to Blubabycakes]

Yes. Houston - Texas( medical center) they are completely different from the lab that tests for CMT. It’s over a year long waiting list.

[Blubabycakes in reply to KAGarcia]

How long have you been waiting. There are cmt specialists center in USA. I haven't had any luck with these . But some people have .Having a unknown variation and being rare is hard . Less than 4% of CMT patients have this nefl gene. It will take me a few days but I see if I can find paperwork on my genes. One of my can cause muscle twitching and I have had this at one time. I get nothing from medical field. I doing alot of supplement , cold light laser therapy and actpuncher right now.