sorry, I got carried away in my previous post.

let me tell you why I thought about DOK7.

first, it is not the waddling gait that is specific (this can happen in any weakness of the hips), but the tendency to point the feet inside.

second, the weakness and fatigubility are not the typical myasthenic, when it becomes more severe at the end of the day, but varies over weeks, and you seem to have very good weeks, in which you are almost normal and very bad ones.

third, the neurological examination does not show the classical fatiguability seen in patients with myasthenia.

fourth, there can be a large variability among family memebers in the way they are affected (although this is true for other types of CMS as well).

fifth, in many patients there is a progressive course, and it is not rare to have significant respiratory muscle involvement requiring nocturnal respiratory support, with time.

sixth, this is a fairly recently described entity, and they are learning more and more about it, and realizing the huge variability, and it is very likely that an average neurologist has no knowledge and understanding of it, and would not even consider it as a possibility. and as the clinical features are very atypical for myasthenia would "rule out" this possibility.

I hope this can help you in some way.

alice