My wife is an occupational therapy student and was assigned the condition myotonia congenita to research. There is a lot of information on the genetics of the condition; however, we did not find much in the way of what clients must experience living with this condition on a daily basis. In saying this, there are several questions we are trying to get answered. Any help that individuals can offer would be greatly appreciated!

1. Has anyone used occupational therapy services? If so, what did the
therapist focus on as part of your plan?
2. Does the condition affect all areas of your life? such as doing daily
tasks (cooking, dressing, toileting)?
3. Does the conditions affect your work environment? Where you work insofar
as an area free of sudden unexpected stimuli or the type of job you
are able to perform?
4. Does the condition affect participation in sports, recreation events
you attend, or the leisure activities in which you participate?
5. In an episode where you ultimately collapse, are you aware that you will
collapse? Do you do anything to "brace" or prepare yourself for the
fall?
6. Is there anything that an occupational therapist can work with you on
to reduce injuries from falling?
7. Are there any devices or equipment that are useful to one with this
condition? Something that makes performing a task (even the simplest of
tasks) easier?
8. Do you experience muscle pain on a regular basis? If so, what helps
alleviate the pain? heat compresses??
9. Are most people sensitive to cold temperatures? What might one do
differently to avoid an episode due to cold temperature?
10. Does myotonia congenita affect facial muscles and muscles involved in
chewing and swallowing?
11. Does myontonia congentia affect cognition, thought processes or the
ability to learn? If so, how?

Any answers that you can provide would be greatly appreciated. The purpose of the school project is to learn and raise awareness about myotonia congenita in order to recognize and help individuals early in life. Please email respones directly to me at lsuball40@hotmail.com . Thanks in advance for your help!!!

Sincerely,
Monte

Country: usa

Monte, you will find many of your questions answered in this information sheet:

Letter for School Staff

Those are great questions and I hope several people will see it and respond. I will try to get back to you with a detailed reply later.

Jan

Type of Myotonia: Thomsen's

Country: US

Jan, absolutely brilliant letter. Just wish there was something like it when I was at school would have saved me loads of embarrassment and headaches (literally).

Country: England

You need to obtain a copy of the pdf "redefining the non-dystrophic myotonic syndromes"

You also should search for: quality of life skeletal muscle, without quotes
to find quality if life studies pertaining to ion channelopathies.

Type of Myotonia: scn4a

Country: USA