Family | A | B | C | D | E |
---|---|---|---|---|---|
No | 7 | 5 | 7 | 5 | 6 |
Symptoms at onset: | |||||
Delayed motor milestones | 2 | 0 | 0 | 0 | 1 |
Gait disturbance | 6 | 4 | 6 | 4 | 6 |
Stiffness of lower limbs | 5 | 5 | 7 | 5 | 6 |
Poor balance | 6 | 1 | 4 | 1 | 4 |
Problems going down stairs | 4 | 4 | 6 | 3 | 4 |
Rapidly worn out shoes | 6 | 5 | 5 | 5 | 5 |
Poor athletic performance | 1 | 0 | 5 | 2 | 4 |
Low backache | 4 | 3 | 3 | 2 | 2 |
Signs (UL LL): | |||||
Weakness | 0/7 7/7 | 1/5 5/5 | 1/7 7/7 | 0/5 5/5 | 1/6 5/6 |
Spasticity | 0/7 7/7 | 2/5 5/5 | 2/7 7/7 | 1/5 5/5 | 1/6 6/6 |
Hyperreflexia | 4/7 7/7 | 5/5 5/5 | 2/7 7/7 | 3/5 5/5 | 5/6 6/6 |
Amyotrophy | 0/7 4/7 | 0/5 2/4 | 0/7 2/7 | 1/5 2/5 | 1/6 3/6 |
Vibration sense decreased | 0/7 2/7 | 1/5 1/5 | 0/7 4/7 | 0/5 3/5 | 0/5 2/5 |
Dysdiadochokinesia | 1/7 1/7 | 0/5 0/5 | 3/7 0/7 | 0/5 0/3 | 3/6 1/5 |
Nystagmus (horizontal) | 3/7 | 1/5 | 3/7 | 0/5 | 0/6 |
Dysarthria | 0/7 | 0/5 | 1/7 | 0/5 | 2/6 |
Urinary symptoms | 4/7 | 0/5 | 5/7 | 0/5 | 4/6 |
Pes cavus | 7/7 | 5/5 | 4/7 | 4/5 | 4/6 |
UL=upper limbs; LL=lower limbs.