Table 1
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Clinical features of CADM3 patients

IndividualsAge at exam, yearsCMTNSv2Distal weakness LLProximal weakness LLDistal weakness ULProximal weakness ULVibration LLVibration ULPinprick LLPinprick ULCentral signsAge of onset
Family 1-II:130183,55,50,0,05,5,5Abs toes (0/8)NormalReduced ankleNormalNone1 year
Family 2-II:17ND0,05,54,5,55,5,5Normal toes (8/8)NormalNormalNormalNone3 years
Family 3-II:114ND1,45,51,2,35,5,5Knee (4/8)NormalReduced ankleReduced to wrist, ulnar nerve distributionBrisk reflexes3 years (slow runner)
Family 3-I:249ND3,4,35,54+,5,55,5,5NormalNormalNormalReduced right ulnar nerve, finger tips leftBrisk reflexes29 years (ulnar neuropathy)
IndividualsAge at exam, yearsCMTNSv2Distal weakness LLProximal weakness LLDistal weakness ULProximal weakness ULVibration LLVibration ULPinprick LLPinprick ULCentral signsAge of onset
Family 1-II:130183,55,50,0,05,5,5Abs toes (0/8)NormalReduced ankleNormalNone1 year
Family 2-II:17ND0,05,54,5,55,5,5Normal toes (8/8)NormalNormalNormalNone3 years
Family 3-II:114ND1,45,51,2,35,5,5Knee (4/8)NormalReduced ankleReduced to wrist, ulnar nerve distributionBrisk reflexes3 years (slow runner)
Family 3-I:249ND3,4,35,54+,5,55,5,5NormalNormalNormalReduced right ulnar nerve, finger tips leftBrisk reflexes29 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.

Table 1
Open in new tab

Clinical features of CADM3 patients

IndividualsAge at exam, yearsCMTNSv2Distal weakness LLProximal weakness LLDistal weakness ULProximal weakness ULVibration LLVibration ULPinprick LLPinprick ULCentral signsAge of onset
Family 1-II:130183,55,50,0,05,5,5Abs toes (0/8)NormalReduced ankleNormalNone1 year
Family 2-II:17ND0,05,54,5,55,5,5Normal toes (8/8)NormalNormalNormalNone3 years
Family 3-II:114ND1,45,51,2,35,5,5Knee (4/8)NormalReduced ankleReduced to wrist, ulnar nerve distributionBrisk reflexes3 years (slow runner)
Family 3-I:249ND3,4,35,54+,5,55,5,5NormalNormalNormalReduced right ulnar nerve, finger tips leftBrisk reflexes29 years (ulnar neuropathy)
IndividualsAge at exam, yearsCMTNSv2Distal weakness LLProximal weakness LLDistal weakness ULProximal weakness ULVibration LLVibration ULPinprick LLPinprick ULCentral signsAge of onset
Family 1-II:130183,55,50,0,05,5,5Abs toes (0/8)NormalReduced ankleNormalNone1 year
Family 2-II:17ND0,05,54,5,55,5,5Normal toes (8/8)NormalNormalNormalNone3 years
Family 3-II:114ND1,45,51,2,35,5,5Knee (4/8)NormalReduced ankleReduced to wrist, ulnar nerve distributionBrisk reflexes3 years (slow runner)
Family 3-I:249ND3,4,35,54+,5,55,5,5NormalNormalNormalReduced right ulnar nerve, finger tips leftBrisk reflexes29 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.

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