Table 2.
Nerve Conduction Studies in Patients with SPTLC2 Mutation
|
Median M |
Ulnar M |
Peroneal M |
Tibial M |
Median S |
Ulnar S |
Sural S |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Patient |
Age |
R/L |
Amp |
CV |
Amp |
CV |
Amp |
CV |
Amp |
CV |
Amp |
CV |
Amp |
CV |
Amp |
CV |
| Normal values ≥ | 4.0 | 49.0 | 4.0 | 49.0 | 3.0 | 41.0 | 3.0 | 41.0 | 7.0 | 46.0 | 2.0 | 47.0 | 1.0 | 44.0 | ||
| CMT-747.I:1 | 79 yrs | R | 9.7 | 44.3 | - | - | 0.1 | 35.7 | - | - | A | A | - | - | - | - |
| L | 8.4 | 51.0 | - | - | 0.1 | 23.3 | - | - | 0.9 | 35.2 | - | - | - | - | ||
| CMT-1044.I:2 | 72 yrs | R | 0.1 | 34.0 | 0.5 | 37.0 | A | A | A | A | A | A | A | A | A | A |
| CMT-1117.II:1 | 44 yrs | R | 6.2 | 55.0 | - | - | A | A | A | A | A | A | 0.4 | 38.0 | A | A |
| CMT-1117.I:2 | 72 yrs | R | 9.9 | 47.0 | 5.6 | 51.0 | 3.0 | 42.0 | - | - | - | - | - | - | 2.7 | 33.0 |
| CMT-635.II:1 | 14 yrs | R | 3.8 | 25.0 | 2.9 | 50.0 | A | A | A | A | A | A | A | A | A | A |
| L | 2.0 | 29 | 2.1 | 53 | A | A | A | A | - | - | - | - | - | - | ||
M, Motor; S, Sensory; Age, age at clinical examination; Amp, amplitude of the nerve action potential (motor: mV; sensory: μV); CV, conduction velocity (in m/s); A, absent response; -, not measured; R, right; L, left. Italics indicate abnormal values.