Table 2.
Electrodiagnostic findings in 43 patients with Congenital Facial Weakness.
| Disorder | Facial Motor NCS (amplitude) | Blink Study (latencies) | Facial EMG | Limb NCS | Limb EMG | |||
|---|---|---|---|---|---|---|---|---|
| OOC (mV) | OOR (mV) | R1 (ms) | IpsiR2 (ms) | ContraR2 (ms) | OOC/mentalis | |||
| Moebius syndrome (n=19) Median range (no response/total tests performed) | 0.45 0.0-1.4 (4/38) |
0.65 0.2-1.7 (3/38) |
9.9 0.0-13.4 (28/38) |
36.7 0.0-72.4 (24/38) |
37.8 0.0-73.6 (24/38) |
OOC: No MU (2), Rare MU (1), Neuro (2) Mentalis: Neuro (6),rare MU (1) Frontalis: No MU (1) |
Nl (9), SN (1), MN(1) | Nl (4), Neuro (2) |
| HCFP, undefined (n=11) Median range (no response/total bilateral tests performed) | 0.35 0.0-2.6 (1/22) |
0.85 0.2-2.7 (0/22) |
10.5 0.0-22.8 (6/22) |
35.6 0.0-48.9 (6/22) |
37.0 (0.0-63.4) (6/22) |
OOC: No MU (2), Neuro (4) Mentalis: No MU (1), Neuro (4), Nl (2) |
Nl (8) | Nl (7) |
| CFEOM 3A-TUBB3 (n=6) Median range (no response/total bilateral tests performed) | 0.78 0.5-1.3 (0/12) |
0.90 0.5--1.2 (0/12) |
11.8 (0.0-12.8 (6/12) |
37.8 0.0-54.2 (6/12) |
36.6 0.0-52.8 (6/12) |
OOC: Nl (2) Mentalis: Neuro (2) |
SMN(6) | Nl (1), Neuro (3) |
| Carey-Fineman-Ziter- MYMK (n=1) Median range (no response/total bilateral tests performed) | NA 0.0,0.0 (2/2) |
NA 0.1,0.1 (0/2) |
NR (2/2) |
NR (2/2) |
NR (2/2) |
OOC: ND Mentalis: Neuro (1) |
Nl(1) | Myo (1) |
| Facial palsy, ophthalmoplegia, arthrogryposis (n=3) Median range (no response/total bilateral tests performed) | 0 0.0-0.1 (3/6) |
0.3 0.3-0.7 (0/6) |
NA 0.0-10.6 (4/6) |
NA 0.0-34.2 (4/6) |
NA 0.0-30.9 (4/6) |
ND | MNC low (2) | Myo (2) |
| Indeterminate Muscle disorder (n=1) Median Range (no response/total bilateral tests performed) | NA 0.9,1.0 (0/2) |
NA 1.2,1.3 (0/2) |
NA 8.2,8.6 (0/2) |
NA 31.9,33.4 (0/2) |
NA 33.5,36.9 (0/2) |
OOC: Myo (1) | Nl(1) | Myo (1) |
| Myotonic dystrophy (n=1) Median range (no response/total bilateral tests performed) | NA 0.2,0.1 (0/2) |
NA 0.0,0.4 (0/12) |
NA 10.9,9.9 (0/2) |
NA 27.1,32.4 (0/2) |
NA 38.4,41.6 (0/2) |
ND | Nl(1) | Myt, Myo (1) |
| Hemifacial myohyperplasia (n=1) Median range (no response/total tests performed) | NA 2.1,0.6 (0/2) |
NA 2.4,1,2 (0/2) |
10.9,9.6 (0/2) |
31.4,26.5 (0/2) |
28.7,28.6 (0/2) |
OOC: ND Mentalis: Neuro (1) |
ND | ND |
| Total Median range (no response/total) | 0.5 0.0-2.6 (10/86) |
0.7 0.0-2.0 (3/86) |
10.4 0.0-16.8 (46/86 |
35.6 0.0-73.6 (42/86) |
35.8 0.0-73.6 (42/86) |
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HFCP - Hereditary Congenital Facial Paresis; CFEOM - Congenital fibrosis of extraocular muscles, CFEOM3A-TUBB3; CFZS – Carey-Fineman- Ziter syndrome, NCS – nerve conduction studies, EMG – electromyography, NCS – nerve conduction studies, EMG – electromyography, OOC-orbicularis oculi, OOR – orbicularis oris, IpR1 - ipsilateral R1 latency, IpR2 – ipsilateral R2 latency, ContraR2 – contralateral R2 latency, MU – motor unit, Neuro – neurogenic, defined as large amplitude, long-duration motor unit potentials with reduced recruitment, Myo – myopathic, defined as low amplitude, short-duration motor unit potentials with early recruitment, Myt – myotonia, Nl – Normal, SN – sensory neuropathy, MN – motor neuropathy, SMN – sensorimotor neuropathy, ND - not done, NA- not available NR- no response.