Family | Family 1 | Family 2 | ||||||
---|---|---|---|---|---|---|---|---|
Individual | II-2 | II-3 | II-7 | III-1 | III-4 | III-5 | II-1 | |
Gender | M | F | M | M | M | F | M | |
Age at onset | 18 | 7 | 45 | 35 | 36 | 32 | 22 | |
Disease duration | 44 | 64 | 22 | 15 | 8 | 8 | 32 | |
Age at investigation | 72 | 71 | 67 | 50 | 44 | 40 | 54 | |
Muscle wasting1 | ||||||||
Underarm | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Hand | 2 | 0 | 0 | 0 | 0 | 0 | 2/1 | |
Thigh | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Leg | 0 | 0 | 1 | 1 | 0 | 0 | 1 | |
Feet | 2 | 2 | 1 | 1 | 1 | 1 | 2 | |
Muscle weaknessNIS | ||||||||
Elbow flexion | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
Wrist extension | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
Finger flexion | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Finger spread | 0 | 0 | 0 | 0 | 0 | 0 | 2/1a | |
Thumb abduction | 3.25/3a | 0 | 0/1a | 0 | 0 | 0 | 3.25/1a | |
Knee flexion | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Knee extension | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Ankle dorsiflexors | 3 | 2 | 3.5 | 1 | 1 | 0 | 3.25 | |
Ankle plantar flexors | 2 | 2 | 3.5 | 1 | 0 | 0 | 3.25 | |
Toe extensors | 3.75 | 2/3.25 | 3.5 | 3.5 | 1 | 0 | 3,5 | |
Toe flexors | 3.25 | 2 | 3.5 | 1 | 1 | 0 | 3.5 | |
Sensory loss | ||||||||
Touch1 | Leg | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
Feet | 1 | 0 | 0 | 0 | 0 | 0 | 1 | |
Arm, hand | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Pain1 | Overarm | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Underarm | 0 | 0 | 0 | 0 | 0 | 1 | 0 | |
Hand | 0 | 0 | 0 | 0 | 0 | 1 | 1 | |
Thigh | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
Leg | 2 | 0 | 0 | 1 | 1 | 0 | 1 | |
Feet | 2 | 0/1a | 0 | 1 | 1 | 0 | 1/2 | |
Vibration1 | Hand | 2 | 1 | 2 | 0 | 0 | 1 | 0 |
2. finger | 2 | 1 | 2 | 0 | 0 | 1 | 0 | |
Knee | 2 | 2 | 2 | 0 | 1 | 1 | 0 | |
Ankle | 2 | 2 | 2 | 0/1a | 2 | 1 | 2 | |
1. metatarsal | 2 | 2 | 2 | 2 | 2 | 1 | 2 | |
1.toe | 2 | 2 | 2 | 2 | 2 | 1 | 2 | |
Proprioceptive1 | Toe | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Reflexes1 | ||||||||
Biceps | 2 | 2 | 1 | 0 | 0 | 0 | 0 | |
Triceps | 0 | 0 | 1 | 0 | 0 | 0 | 0 | |
Brachioradialis | 2 | 2 | 1 | 0 | 0 | 0 | 0 | |
Patellar | 2 | 2 | 1 | 0 | 2 | 0 | 0 | |
Achilles | 2 | 2 | 2 | 2 | 2 | 1 | 2 | |
Romberg1 | 2 | 2 | 2 | 0 | 0 | 0 | 1 | |
Deformities1 | ||||||||
Pes cavus | 2 | 1 | 1 | 1 | 1 | 0 | 1 | |
Hammertoes | 0 | 1 | 0 | 1 | 0 | 0 | 0 | |
Pes planus | 0 | 0 | 0 | 0 | 0 | 1 | 0 | |
Scoliosis | 0 | 0 | 0 | 0 | 1 | 1 | 0 | |
NIS score | 66,25 | 38.25 | 47 | 19 | 20 | 10 | 50.5 |