From: A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy
Patient 1 | Patient 2 | Normal value | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Age at exam (years) | 12 | 13 | 17 | 33 | 34 | 21 | 22 | |||||
Side | Rt | Rt | Rt | Rt | Lt | Rt | Lt | Rt | Lt | Rt | Lt | |
Median nerve | ||||||||||||
TL (ms) | 3.7 | 4.3 | 4.6 | 9.2 | 7.0 | 9.2 | 6.5 | 3.6 | 3.7 | 3.2 | 3.1 | <3.9 |
CMAP (mV) | 10.0 | 7.7 | 2.3 | 2.1 | 1.0 | 2.5 | 1.1 | 15.1 | 13.3 | 13.9 | 10.9 | >6.0 |
MNCV (m/s) | 39.6 | 41.3 | 57.1 | 39.0 | 38.6 | 41.1 | 41.5 | 59.5 | 57.1 | 61.3 | 54.4 | >50.5 |
Ulnar nerve | ||||||||||||
TL (ms) | 3.3 | 3.4 | 3.2 | 9.9 | 6.4 | 9.2 | 6.0 | 2.3 | 2.3 | 2.5 | 2.3 | <3.0 |
CMAP (mV) | 11.0 | 9.5 | 6.3 | 0.8 | 3.8 | 0.7 | 3.0 | 12.7 | 10.1 | 11.1 | 9.3 | >8.0 |
MNCV (m/s) | 51.7 | 43.5 | 39.0 | 43.4 | 39.0 | 43.5 | 40.4 | 56.1 | 62.6 | 56.9 | 60.5 | >51.1 |
Peroneal nerve | ||||||||||||
TL (ms) | A | A | A | A | A | A | A | A | A | A | A | <5.3 |
CMAP (mV) | A | A | A | A | A | A | A | A | A | A | A | >1.6 |
MNCV (m/s) | A | A | A | A | A | A | A | A | A | A | A | >41.2 |
Tibial nerve | ||||||||||||
TL (ms) | A | A | A | A | A | A | A | A | A | A | A | <5.4 |
CMAP (mV) | A | A | A | A | A | A | A | A | A | A | A | >6.0 |
MNCV (m/s) | A | A | A | A | A | A | A | A | A | A | A | >41.1 |
Median sensory nerve | ||||||||||||
SNAP (μV) | A | A | A | A | A | A | A | A | A | A | A | >8.8 |
SNCV (m/s) | A | A | A | A | A | A | A | A | A | A | A | >39.3 |
Ulnar sensory nerve | ||||||||||||
SNAP (μV) | A | A | A | A | A | A | A | A | A | A | A | >7.9 |
SNCV (m/s) | A | A | A | A | A | A | A | A | A | A | A | >37.5 |
Sural nerve | ||||||||||||
SNAP (μV) | A | A | A | A | A | A | A | A | A | A | A | >6.0 |
SNCV (m/s) | A | A | A | A | A | A | A | A | A | A | A | >32.1 |
H-reflex (ms) | A | A | A | A | A | A | A | A | A | A | A | <30.2 |