Table 2 Electrodiagnostic study results
Nerve conduction studies (NCS) | |||||
|---|---|---|---|---|---|
Case | 1 | 2 | 3 | 4 | |
Gender and status | Male (proband) affected | Male (proband’s brother) affected | Female (proband’s mother) carrier | Female (proband’s sister) carrier | |
Age | 23 | 31 | 56 | 26 | |
Motor | |||||
Distal latencies | N | N | N | N | 2.5–3 ms |
Amplitudes | N | N | N | Decreased | 3–8 mV |
Conduction velocities | N | Slow | Slow | Slow | 40–60 m/s |
Sensory | |||||
Distal latencies | N | N | N | N | 2 ms |
Amplitudes | N | N | N | Decreased | 5–15 µV |
Conduction velocities | N | Slow | Slow | Slow | 50 m/s |
F-waves | |||||
Amplitudes | High | High | N | N | 200–1000 µV |
Size | Huge | Huge | N | N | ˃1000 µV |
Latencies | N | Long | Long | Long | 40–50 ms |
Needle EMG (EMG) | |||||
Spontaneous activity | Segmental positive sharp waves | Segmental fibrillations | Segmental fibrillations | – | None |
Motor unit potential configuration (MUAPs) | |||||
Duration | Short | Normal | Long | Long | 9–11 ms |
Amplitude | High—upper limbs Low—lower limbs | High—upper limbs Low—lower limbs | Low | High-upper limbs Normal—lower limbs | 200–900 µV |
recruitment pattern | Early | Early | Early | Early | 1200–2500 µV |
Neurological status | |||||
Normal reflexes | High | High | High | High | Norm rate |
Pathological reflexes | + | + | − | − | None |
Conclusion | Motoneuron activity—neurogenic Secondary myopathy | Motoneuron activity—neurogenic Secondary myopathy Sensory polyneuropathy, with demyelination | Secondary myopathy Distal sensory polyneuropathy | Motoneuron activity—neurogenic Secondary myopathy Sensory polyneuropathy | |