Research Article
Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease
Table 2
Electrodiagnostic findings in proband and other family members.
| | | II-1 | II-3 | I-1 | I-2 | | | Normal value | Left | Right | Left | Right | Left | Right | Left | Right |
| | Median nerve | | DML (ms) | < 4.4 | | | 2.8 | 3 | 3.2 | 3 | 3.4 | 3.5 | | CMAP (mV) | >4 | No response | 1.6 | 1.6 | 7.5 | 7.3 | 8.9 | 12.4 | | MCV (m/s) | >49 | | | 52.4 | 50 | 59.5 | 57.9 | 55.6 | 60.6 | | DSL (ms) | <3.5 | | | | | 2.8 | 3 | 3.3 | 3.1 | | SNAP (μV) | >20 | No response | No response | 34 | 32 | 49 | 42 | | SCV (m/s) | >50 | | | | | 56.5 | 54.2 | 51.5 | 52 |
| | Ulnar nerve | | DML (ms) | <3.3 | | | 1.75 | 1.75 | 2.5 | 2.5 | Not performed | 2.7 | | CMAP (mV) | >6 | No response | 2.9 | 4.1 | 6.2 | 6.3 | 5.5 | | MCV (m/s) | >49 | | | 52.8 | 52.8 | 61.5 | 53.4 | 60.6 | | DSL (ms) | <3.1 | | | | | 2.7 | 3.6 | 2.5 | | SNAP (μV) | >17 | No response | No response | 26 | 23 | 42 | | SCV (m/s) | >50 | | | | | 51 | 51 | 57.9 |
| | Posterior Tibial nerve | | DML (ms) | <5.8 | | | | | 4.2 | 4.1 | 3.5 | Not performed | | CMAP (mV) | >4 | No response | No response | 11.9 | 9.2 | 11.4 | | MCV (m/s) | >41 | | | | | 47.4 | 49.3 | 51.5 |
| | Deep Peroneal nerve | | DML (ms) | <6.5 | No response | No response | Not performed | 4.1 | Not performed | | CMAP (mV) | >2 | 2.6 | | MCV (m/s) | >44 | 49.2 |
| | Superficial peroneal nerve | | DSL (ms) | <4.4 | No response | No response | 4.6 | 5.2 | Not performed | | SNAP (μV) | >6 | 1.2 | 0.8 | | SCV (m/s) | >40 | 52.6 | 47.6 |
| | Sural nerve | | DSL (ms) | <4.4 | No response | No response | 2.9 | 2.8 | 3.4 | 3.4 | | SNAP (μV) | >6 | 12 | 15 | 19 | 21 | | SCV (m/s) | >40 | 57.1 | 52.4 | 46.2 | 46.2 |
| | Needle EMG | De- and reinnervation | Not performed | Normal | Not performed |
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DML: distal motor latency, CMAP: compound muscle action potential, MCV: motor conduction velocities, DSL: distal sensory latency, SNAP: compound sensory action potential, SCV: sensory conduction velocities, and EMG: electromyography. Nerve conduction studies were not evaluated in II-2 (proband’s sister).
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