Table 1.
Summarized clinical and ancillary tests findings
| Family 1 | Family 2 | ||
|---|---|---|---|
| II.4 | III.5 | II.2 | |
| Gender | Female | Male | Female |
| Age at first symptoms (years) | 30 | 20 | Early adulthood |
| Age at last examination (years) | 66 | 46 | 46 |
| Distal weaknessa | |||
| UL | ++ | ++ | + |
| LL | +++ | +++ | − |
| Distal atrophyb | |||
| UL | ++ | ++ | − |
| LL | ++ | ++ | − |
| Proximal weaknessa | |||
| UL | ++ | + | − |
| LL | ++ | − | + |
| Foot deformity | − | − | Pes cavus |
| Motor performance at last visit | Wheelchair | Ankle‐foot orthoses. Independent ambulation but limited gait perimeter | Independent ambulation but limited gait perimeter |
| Distal sensory lossc | + | − | − |
| Spine deformity | + | − | − |
| Deep tendon reflexd (UL/LL) | −/− | −/− | +/− (ankle) |
| Motor NCSe (MNCV/CMAP) | |||
| Median nerve | 31.1/0.44 | 52.8/9.6 | 60/7.02 |
| Ulnar nerve | 41.1/1.22 | 48/14.6 | 67/7.60 |
| Common peroneal nerve | 26.7/0.38 | 38.5/0.5 | 53/8.14 |
| Tibial nerve | 28.2/0.8 | 37/5.5 | NA/12 |
| Sensory NCS f (SNCV/SNAP) | |||
| Median nerve (Transcarpal) | NA | 51.3/0.69 | 55/124 |
| Ulnar nerve (5th finger) | NR | NA | 55/21.2 |
| Radial nerve | NR | 48.8/3.4 | NA |
| Superficial peroneal nerve | NA | NA | 37/26.4 |
| Sural nerve | NR | NA | NA |
Abbreviations: LL, lower limbs; NA, no data available; NCS, nerve conduction studies; UL, upper limbs.
(−) no weakness, (+) 4/5 on Medical Research Council (MRC) scale, (++) <4/5 on MRC scale, (+++) complete paralysis.
(−) no atrophy, (+) mild atrophy, (++) moderate or severe atrophy.
(−) normal, (+) mild, (++) profound.
(+) normal, (+/−) decreased, (−) areflexia.
Motor nerve conduction studies (NCS). MNCV: motor nerve conduction velocity (m/s). CMAP: compound motor action potentials (mV); Muscles recorded: median: abductor pollicis brevis/ulnar: adductor digiti minimi/superficial peroneal: extensor digitorum brevis/tibial: tibialis posterior.
Sensory nerve conduction velocity (NCS). Sensory conduction velocities (m/s). SNAP: sensory nerve action potential (µV). NA = not available; NR = not recordable.