Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | ||
---|---|---|---|---|---|---|---|---|
GNE Mutation | p.Val685Ala, p.Val685Ala | p.Val685Ala, p.Val685Ala | p.Gly142Arg, p.Phe315Ser | p.Arg39*, p.Asp207Val | p.Arg39*, p.Asp207Val | p.Asp207Val, p.Val362Ala | p.Asp207Val, p.Lys240Glu | |
Age (y), gender | 34, Male | 31, Female | 24, Male | 25, Female | 21, Female | 26, Female | 39, Female | |
Age at onset (y) | 28 | 27 | 21 | 24 | 20 | 24 | 33 | |
Lower limb reflex | Absent ankle reflex | Absent ankle reflex | NA | Absent patellar and ankle reflex | Absent patellar and ankle reflex | Absent patellar and ankle reflex | Absent patellar and ankle reflex | |
Creatine kinase | 975 IU/L | NA | 749 IU/L | 276 IU/L | 674 IU/L | 351 IU/L | NA | |
Time between disease onset and EDX | 6 years | 5 years | 3 years | 1 year | 1.3 years | 1 year | 3 years | 6 years |
Left tibial nerve CMAP amplitude (mV) | 1.5↓ | 0.77↓ | 6.4 | 4.1 | 4.6 | 10.5 | 13.4 | 5.2 |
Right tibial nerve CMAP amplitude (mV) | 1.1↓ | 0.32↓ | 5.4 | 6.9 | 7 | 10.5 | 19.7 | 4.5 |
Left peroneal nerve CMAP amplitude (mV) | 0↓ | 0.20↓ | 0.3↓ | 0.72↓ | 0.58↓ | 3.2 | 5.8 | 2.4↓ |
Right peroneal nerve CMAP amplitude (mV) | 0↓ | 0.19↓ | 0.7↓ | 5.1 | 2.7↓ | 4 | 7 | 3.3 |
EMG spontaneous activity (TA) | Fib 1 + | NA | Fib 3 + | NA | Fib 3 + | NA | Fib 0 | Fib 3 + |
PSW 2 + | PSW 3 + | PSW 3 + | PSW 0 | PSW 3 + | ||||
EMG Voluntary motor unit potentials (TA) | Amp↑(1059 μV) | NA | Amp↑ | NA | Amp↑(1048 μV) | NA | NA | Amp (623 μV) |
Dur (11.6 ms) | Dur↑ | Dur (12 ms) | Dur↓(6.1 ms) | |||||
Recruitment↓↓ | Recruitment↓↓ | Recruitment↓↓↓ | Complete recruitment with low amplitude |