Pedi CMT

[PMR 4 MSK]

14 yof, + FHx CMT (subtype unknown), few months of tremors and "clumsiness". PE shows absent LE MSR's, possible mild distal hand and foot atrophy, normal sensation except vibratory and normal strength.

All LE motors NR, including peroneal to Tib Ant and tibial to Gastroc. No F-waves, No H-reflexes, all sensories out.

Did median motor in 1 limb - distal latency 11.1, Amp 0.6 mV, NCV forearm 12.2 or so. Ulnar and median sensories NR.

Needle exam benign except EDB 1+ fibs and incomplete recuitment.

Anything else need to be tested on EDX? I know there's a lot more I could have tested on UE's, but she's young and was brave enough to endure all that. I don't think she would have tolerated CN testing, like blink reflex. Any other tests that would have been important enough to make a difference?

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[Ludicolo]

I think what you got is fine - fits the clinical picture. A radial sensory, followed by blinks if radial SNAP unobtainable, would have been nice but if she can't tolerate it - she can't tolerate it.

On PE: pes cavus? large palpable nerves?

On EMG: what else did you needle?

What did you do to r/o ulnar neuropathy at the wrist/elbow?

 

[PMR 4 MSK]

Mild pes cavus, mom says developing over the past year or so.

I needled Deltoid, Extensor Dig Comm, FDIM, Quad, Tib ant and EDB. It was hard to get her through that much.