Table 1.
Clinical data of symptomatic patients of the pedigree with CMTX
| Samples | III24 | III26 | III27 | IV27 | IV34 | V2 | IV17 |
|---|---|---|---|---|---|---|---|
| Sex† | M | M | M | M | M | M | F |
| Age at first exam, years | 54 | 42 | 49 | 35 | 25 | 25 | 57 |
| Age at onset, years | Puberty | Puberty | Puberty | 10+ | 14 | After 20 | Approximately 20 |
| Initial symptoms‡ | LLW | LLW | LLW | LLW | LLW | MLLA | PC |
| Muscle weakness§ | |||||||
| UL | ++ | + | + | + | + | − | − |
| LL | ++ | ++ | ++ | + | + | − | ++ |
| Muscle atrophy (UL/LL)¶ | +++ | +++ | ++ | ++ | ++ | + | ++ |
| Tendon reflexes (UL/LL)|| | L/L | L/L | D/L | L/L | D/L | N/N | N/L |
| Pes cavuslll | + | + | + | + | + | − | − |
| Gait disturbancelll | + | + | + | + | + | − | + |
| Hand tremorlll | − | − | − | − | + | − | − |
| Sensory losslll | + | − | + | − | − | − | − |
| Electromyographyllll | NA | NA | NA | NA | A | A | NA |
†
M: Male, F: Female.
‡
LLW: lower limb weakness, MLLA: mild lower limb atrophy, PC: pes cavus.
§
MRC strength grade for upper limbs (bilateral intrinsic hand muscles)/lower limbs (bilateral foot dorsiflexors), UL: upper limbs, LL: lower limbs, ‐: normal, +: distal weakness ≥ 3−/5, + +: distal weakness < 3−/5.
¶
+: mild atrophy in distal limbs, + +: moderate atrophy in distal limbs, + + +: severe distal limbs or proximal muscle atrophy.
||
L: loss, D: decreased, N: normal.
lll
‐: absence, +: presence Electromyography.
llll
A: abnormal, N: normal, NA: No available data.