Table 3

Symptoms and signs in 30 affected persons (ADPSP index 3) in the five families

FamilyABCDE
No75756
Symptoms at onset:
 Delayed motor milestones20001
 Gait disturbance64646
 Stiffness of lower limbs55756
 Poor balance61414
 Problems going down stairs44634
 Rapidly worn out shoes65555
 Poor athletic performance10524
 Low backache43322
Signs (UL LL):
 Weakness0/7 7/71/5 5/51/7 7/70/5 5/51/6 5/6
 Spasticity0/7 7/72/5 5/52/7 7/71/5 5/51/6 6/6
 Hyperreflexia4/7 7/75/5 5/52/7 7/73/5 5/55/6 6/6
 Amyotrophy0/7 4/70/5 2/40/7 2/71/5 2/51/6 3/6
 Vibration sense decreased0/7 2/71/5 1/50/7 4/70/5 3/50/5 2/5
 Dysdiadochokinesia1/7 1/70/5 0/53/7 0/70/5 0/33/6 1/5
 Nystagmus (horizontal)3/71/53/70/50/6
 Dysarthria0/70/51/70/52/6
 Urinary symptoms4/70/55/70/54/6
 Pes cavus7/75/54/74/54/6
  • UL=upper limbs; LL=lower limbs.