Research Article
Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort
Table 2
Comparison of clinical characteristics between three different pathological CMT1A subtypes.
| | Subtype 1 | Subtype 2 | Subtype 3 |
| Number of patients | 3 | 10 | 11 | Age at onset (years) | | | | Age at examination (years) | | | | Disease duration (years) | | | | Distal muscle weakness | | | | Upper limbs | | | | Lower limbs | | | | Muscle atrophy | | | | Hand | 2 (66.7%) | 7 (70%) | 4 (36.4%) | Calf | 2 (66.7%) | 4 (40%) | 4 (36.4%) | Sensory loss | 3 (100%) | 6 (60%) | 6 (54.5%) | Areflexia | 3 (100%) | 8 (80%) | 11 (100%) | Foot deformity | 1 (33.3%) | 5 (50%) | 7 (63.6%) |
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Subtype 1: pure onion bulb formation; Subtype 2: onion bulb formation with axonal sprouts; Subtype 3: focally thickened myelin with onion bulb formation or/and axonal sprouts. .
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