ALS4(SETX) Charcot Marie Tooth

[JTS]

very first post. I am looking for anyone to discuss this with. Recently diagnosed and it's so difficult to get any information on this rare form of ALS.
Thank you to whoever responds. I'll do my best to correspond asap but brand new to this forum and doing my best to navigate it. Thank you again.
JTS

 

[Nikki J]

Have you seen this site? Home | als4 I know there is an active als4 group and imagine you can find them through that site

For people who do not know als4 is a very rare genetic form with very slow progression and carriers usually live a normal lifespan. I hope this for the op

 

[lgelb]

Welcome, JTS. As I'm sure you know, the good news is that the life expectancy is normal in ALS4 and bulbar dysfunction is not part of it as it is for other ALS subtypes. The bad news is that you're a young person with ALS.

Just want to make sure you are not referring to CMT4? That is a different illness.

You can just keep coming to this thread and adding/reading responses. You can also chime in on any other thread in this "General" section or in the "People with ALS" section.

 

[JTS]

thank you for that information. I went to ALS4.org immediately and it was very helpful and they are great. We're talking this week. If anyone out there has either ALS4 please feel free to respond this. I'll be checking back. Thx again

 

[JTS]

Thank you for the welcome and this information.

Yes, I am referring to CMT4, if by which you mean Charcot Marie Tooth. It was found from the same SETX gene mutation with the ALS4 as well as Spino-Cerebella Ataxia which luckily I narrowily escaped. My mother who unknowingly passed this down, has been wheelchair bound for many years from severe SCA but not the other two, so apparently it's tricky that way. ALS4.org is great. VERY informative and quick to respond if anyone out there is looking for info. I'm still researching the CMT and how to live with it progressing so I'm open if anyone has advice. I'm curious abiut European Studies/Trials/etc., as well.

Please respond to this thread if anyone wants to discuss ALS4 and/or CMT. I'm happy to share what I deal with and know, as well as take in absolutely whatever anyone has to offer on these things.

Thx again