|
|
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 |