Autosomal recessive demyelinating CMT4 patients present with earlyonset and slowly progressing symptoms. These include progressive distally accentuated weakness and atrophy of muscles in the lower limbs. In addition, patients may have weakness and atrophy of hands, sensory loss and pes cavus (high-arched feet), and walking difficulties. Further information on CMT4 can be found at Orphanet.
Many genes and their mutations are associated with CMT4 including GDAP1, MTMR2, SBF2, SH3TC2, NDRG1, EGR2, PRX, FGD4 and FIG4. These have different roles, for example GDAP1; the most frequent genetic cause of CMT4 is a protein on the outer mitochondrial membrane and regulates the mitochondrial network. MTMR2 encodes a protein that may have a role in neural membrane recycling and membrane trafficking. A more recently identified gene mutation in SURF1 encodes cytochrome c oxidase, a protein anchored to the mitochondrial inner membrane. Some of these genes like MTMR2 and FIG4 interact to control the phospholipid substrate PtdIns (3,5)P2 in neurons and Schwann cells to control phospholipid metabolism. Clearly understanding the complexity of mutations in one or more of these genes and predicting the types of symptoms observed is difficult as these genes regulate proteins with a multitude of functions. There are still gaps in understanding this disease. To date there is also no treatment for CMT4. The prevalence is also unknown. We would like to evaluate potential early stage therapeutic treatments for CMT4 and you can help! Please register if you have CMT4 at GRIN and this may give us an estimate of prevalence and you can find out more.
My father was never diagnosed but had the high arched and crooked instep. First three sons had triple arthedesis (sp) surgery, in their teens, in an attempt to corrrct the ptoblem. I don’t believe the disease had been identified and named at that time.
Fourth child, another son, and fifth child, the only daughter, have never been diagnosed, evev though they exhibit some of the symptoms.
My father was born in 1909 and passed in 1966.
I am almost 30, diagnosed with 4J in 2015. Would love to connect with others who have this type.
Hi, This is first time I’ve looked at CMT4J material online in about 5 years. From 2009 to 2013 it consumed my life and I had to stop and go back to living my life.
I’m 60 and living in NYC although I was raised in the suburbs but I slowly lost the ability to drive (poor judge of distance).
I have seen the online material concerning 4J change over the past decade. Several articles were removed and re-written. One study stated a nine (9) year Mean Length of Survival from diagnosis for Late Onset 4-J. That really freaked me out.
For me, the Insidious Onset was the most damaging part of 4J. I was repeatedly misdiagnosed and misjudged as being lazy or worse.
I began taking Modafinil about 2 years ago and it helps me stay focused throughout the day.
Hi I have registered today. Have had nerv conduction studies and emg done today which show axonal as well as demyelinating symptoms. I have an autosomal recessive inheritance pattern. Would love to find out what sub group I am.
Hi there my 10yr old son has recently been diagnosed with cmt 4b2.
I was just diagnosed at age 71 with 4B2. When I was in my early 50’s I saw the 1st real symptoms. My mom and older sister also saw their 1st symptoms in their 50’s. About 12 yrs ago my mother( age 87) and I went to Johns Hopkins CMT clinic. We both were thought to have type 2A due to our late onset, physical symptoms, and family history. My mother had a blood test done without a firm Type given.
So now my new ‘type 4B2’ is ” variant of uncertain significance identified”. 72 genes were evaluated that are associated with genetic disorders. WE NEED MORE RESEARCH DONE just to understand what we have.
Hi Cynthia & Jenni, We agree that more research must be done on all types of CMT which is why we developed our patient registry which collects patient data and connects it with researchers in real time! Please complete the Natural History Study at https://www.hnf-cure.org/registry/
I have six children. Three of my children all girls have a CMT type 4c . I would love to connect with other families thank you
Hi traci- my daughter also has cmt type 4c.
Hi Susan, my daughter and son both recently got diagnosed with CMT4C
My son is 16!and has cmt4c
Am not sure if my 16 year old has CMT 4. But the about descriptions fits his conditions, all I know he has CMT.
My daughter was diagnosed with CMT at the age of 14. She was originally diagnosed with CP at age 3. We have been to 5 different neurologists, she is now 22, and no one can tell us any more than this. Her symptoms look like this type, high arches, lower leg weakness, numbness in hands, demyelination, extreme difficulty walking. They have also used CIPD. I’m in the process of registering her with the global registry. We have also been told because there is no family member that has passed it to her, she has a genetic mutation somewhere and that this registry might help. She has struggled with thus for many years with no help and just feeling alone.
Me and my sister have CMT4 symptoms.
Thank you for sharing with HNF. Have either of you joined the registry? https://neuropathyreg.patientcrossroads.org/
Hi, Rohan.
Have you had genetic testing yet?
–Jocelyn
Both of my sons age 5 and age 8 have CMT4….please keep us in mind for any testing or research.
Kristina,
We will keep you updated! Please make sure you join the Global Registry for the Inherited Neuropathies at https://neuropathyreg.patientcrossroads.org/
Hi
Would very much like to be in contact with you as my 12 year old daughter has cmt type 4j.
Regards
Paula
Hi I would very much like to be in contact with you as my daughter is 12yrs old and has CMT type 4j.
Regards Paula
Hi, Paula.
We have a website: http://curecmt4j.org/ You can find contact info through the website. I am happy to connect and share with you what we’re doing. –Jocelyn
Hello my name is Jodi and I was just told that they suspect that I have CMT4j. I am 48, however, in the minimal amount of information about the condition, we have noticed that this is probably something that I have been affected by for years, yet gone un-diagnosed. Any help with other symptoms or expectations would be greatly appreciated. Thank you
The Insidious Onset of 4-J really hurt my life over the course of 2 decades. My sister also has a bad case of CMT4F we are full siblings).
I find myself often explaining how past events in my life were misperceived or misdiagnosed. We are not lazy we are ill.
I was pushed into sports as a child and never did better than 3rd string. I eventually settled on swimming where my distal weakness did not have such a profound effect on my performance.
Neil NYC 2018
Both of my boys have CMT4..Age 5 and Age 8….we would love be to be any part of an experiment to find a cure…..
Thank you for reaching out and we will keep you updated! Make sure you join the Global Registry for Inherited Neuropathies at https://neuropathyreg.patientcrossroads.org/
Hi, Kristina.
Do you know which Type4 your boys have?
Jocelyn
I have some of the those conditions, such as the atrophy of lower leg muscles and hands and right forearm. Including demyelination determined from a neurological exam. Though not official, this appears to be induced by what is termed Pressure Palsy, since paralysis and weakness is brought on through extended periods of being in positions similar to crossing ones legs. Weakness often lasts for months.
Hello, My name is Vanessa and I’m from Bogotá, Colombia (South America). I would really like to talk with someone who could help me out: I’m 38 years old and I was diagnosed as a “Roussy-Levy Syndrome” patient when I was around 5 years old. Since I’ve never had the chance to have a genetic study, I actually don’t know what CMT type could be my disease.
There’s no need to say that my case have been poorly managed.
I really, really need your advice and/or your help.
Thanks in advance.
My 16 year old son was recently diagnosed with CMT 4
Please make sure you join the Global Registry for Inherited Neuropathies https://neuropathyreg.patientcrossroads.org/
Hi, Zsa zsa.
Do you know which type of 4 your son has?
–Jocelyn
I have CMT and I believe that it is the above listed CMT4. Thank You for your work.
My 10 year old daughter has cmt 4j
Please make sure you join the Global Registry for Inherited Neuropathies! https://neuropathyreg.patientcrossroads.org/
I was just diagnosed with CMT4j and I would like to get some further information about the condition from people who also have it. I have severe avascular osteonecrosis as well as the neuromuscular findings. I would really like to see if anyone else has suffered from bone issues.
Its been over 5 years since I looked at 4-J material online. Back then there was very little to be found.
I was most affected by the Insidious Onset of this disorder. The decade before my diagnosis at age 50 was a living Hell. I was repeatedly misdiagnosed or viewed as malingering.
CMT4J older adult here. My bones seem to be fine at age 60. Diagnosed 2009 although my exact DNA sequence was “previously unknown”. I do have little energy and began using Modafinil daily which helps with my energy level during the day.
Hi
My 12 year old daughter was diagnosed with cmt type 4j last year.
Would be great to get in touch with another person with CMT 4j
Hi Paula,
Have you joined our Inspire Community? https://www.inspire.com/groups/charcot-marie-tooth-cmt/ Can we forward your email to an individual that has CMT 4j?
Yes of course
Kind regards
I have a CMT 4 diagnosis that has severely impacted the bony structures in my spine, knee and ankle.
Hi yes I’ve joined it.
Regards
Hi Paula, I received your email. Thank you for reaching out to us. I will contact you later today. Best, Allison Moore
Thank you for joining. We are working with Jocelyn Duff and cureCMT4J on a research strategy. Talk soon.
Hi, Paula.
Our daughter also has CMT4J. We should connect.
–Jocelyn
Thank you
Hi so sorry for late reply.
That would be brilliant!
Please get in touch [email protected]
Look forward to speaking to you some more.
Kind regards
Hi Paula, thanks for reaching out. We would love to connect with you to share our collaborative research program related to CMT4J. I can be reached via email. [email protected]
My daughter has been diagnosed with CMT4J today (she’s 5 yrs old) if you are interested (from the UK).
My 6yr old daughter has CMT 4 A
How can we be part of this movement
Hi Adriana,
We would love for you to get involved with spreading awareness for CMT. Please reach out to me: [email protected]
Hi Nicole, this is Allison Moore. HNF is working on a research strategy with another family affected by CMT4J. They are championing CMT4J by raising funds for research. I would like the opportunity to connect with you off-line. Best, Allison
[email protected]