How do you approach workup for patients with suspected muscular dystrophy?

Muscular dystrophy (MD) is a group of > 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles with a progressive course affecting voluntary movement. Hallmarked by variables in the age of onset, severity, and pattern of affected muscles. Certain types also affect t...

I would like to put a couple of notes of caution regarding the approach of starting with sponsored (free) next-gen sequencing for muscular dystrophies before any other tests are done:

• One has to recognize the phenotypes of certain MDs that can NOT be diagnosed with Next-Gen sequencing, because they...

I agree with the above approach in a traditional manner, but practically speaking, the fastest and most economical manner in which to make a definitive diagnosis is to simply send an invitae comprehensive muscular dystrophy panel or comprehensive neuromuscular disease panel. It is at most $250 out o...