Family 1 Family 1 Family 2
II.4 III.5 II.2
Gender Gender Female Male Female
Age at first symptoms (years) Age at first symptoms (years) 30 20 Early adulthood
Age at last examination (years) Age at last examination (years) 66 46 46
Distal weakness a UL ++ ++ +
LL +++ +++ -
Distal atrophy b UL ++ ++ -
LL ++ ++ -
Proximal weakness a UL ++ + -
LL ++ - +
Foot deformity Foot deformity - - Pes cavus
Motor performance at last visit Motor performance at last visit Wheelchair Ankle-foot orthoses. Independent ambulation but limited gait perimeter Independent ambulation but limited gait perimeter
Distal sensory loss c Distal sensory loss c + - -
Spine deformity Spine deformity + - -
Deep tendon reflex d (UL/LL) Deep tendon reflex d (UL/LL) -/- -/- +/- (ankle)
Motor NCSe (MNCV : m/s; CMAP: mV) Median 31.1 / 0.44 52.8 / 9.6 64 / 7.43
Ulnar 41.1 / 1.22 48 / 14.6 69 / 7.65
Peroneal 26.7 / 0.38 38.5 / 0.5 53 / 9.14
Tibial 28.2 / 0.8 37 / 5.5 NA / 11.59
Sensory NCS f (SNCV: m/s; SNAP: µv)
Median
NA
51.3 / 0.69
NA / 44.3
Ulnar NR NA NA
Radial NR 48.8 / 3.4 NA
Superficial NA NA NA / 29.3
Sural NR NA NA