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 1Subtype 2Subtype 3

Number of patients31011
Age at onset (years)
Age at examination (years)
Disease duration (years)
Distal muscle weakness
 Upper limbs
 Lower limbs
Muscle atrophy
 Hand2 (66.7%)7 (70%)4 (36.4%)
 Calf2 (66.7%)4 (40%)4 (36.4%)
Sensory loss3 (100%)6 (60%)6 (54.5%)
Areflexia3 (100%)8 (80%)11 (100%)
Foot deformity1 (33.3%)5 (50%)7 (63.6%)

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. .