Hello, i recently got genetic testing which showed a mutation in LRSAM1 which causes a rare CMT2P. I have not seen my neurologist since the results came back. My symptoms involved muscle twitching, nerve pain and vibrations, fatigue and muscle weakness, pain in my hands and feet. When i talk to my neurologist about the results i will update you on plan of care. Which type of CMT do you have?

Wow. I am going to check for that. Have suspected something like that.

The muscle twitching and other symptoms were bothering me so i asked for further test. The neurologist sent of genetic test. I have a SCN4A mutation and LRSAM1 mutation both of unknown significance. She said i have a mild myotonic disorder but not CMT but i feel that the LRSAM1 mutation is the cause of some of my symptoms. I don't know where or who to turn to for help.

Where n how did you get the genetic testing done?
Hugs