Table 1.
Clinical features of CADM3 patients
| Individuals | Age at exam, years | CMTNSv2 | Distal weakness LL | Proximal weakness LL | Distal weakness UL | Proximal weakness UL | Vibration LL | Vibration UL | Pinprick LL | Pinprick UL | Central signs | Age of onset |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family 1-II:1 | 30 | 18 | 3,5 | 5,5 | 0,0,0 | 5,5,5 | Abs toes (0/8) | Normal | Reduced ankle | Normal | None | 1 year |
| Family 2-II:1 | 7 | ND | 0,0 | 5,5 | 4,5,5 | 5,5,5 | Normal toes (8/8) | Normal | Normal | Normal | None | 3 years |
| Family 3-II:1 | 14 | ND | 1,4 | 5,5 | 1,2,3 | 5,5,5 | Knee (4/8) | Normal | Reduced ankle | Reduced to wrist, ulnar nerve distribution | Brisk reflexes | 3 years (slow runner) |
| Family 3-I:2 | 49 | ND | 3,4,3 | 5,5 | 4+,5,5 | 5,5,5 | Normal | Normal | Normal | Reduced right ulnar nerve, finger tips left | Brisk reflexes | 29 years (ulnar neuropathy) |
Motor weakness based on MRC scale (0–5). Lower limb distal weakness assessed by anterior tibialis and gastrocnemius; lower limb proximal weakness assessed by ilio psoas and quadriceps; upper limb distal weakness assessed by first dorsal interosseous, abductor pollicis brevis, and adductor digiti minimi, upper limb proximal weakness assessed by deltoids, biceps brachii, and triceps. Vibration based on Rydell tuning fork with ‘5’ on scale of ‘8’ being considered normal. Both motor and sensory evaluations were based on worst score observed of the two limbs. CMTNSv2 scores are separated into <10 (mild), 11–20 (moderate) or >20 (severe) impairment.20 Abs = absent; LL = lower limb; ND = not done; UL = upper limb.