Skip to main content

Table 2 Results of clinical and neurological examination

From: Childhood Pompe disease: clinical spectrum and genotype in 31 patients

  Number of patients (Total 31)
Clinical findings  
 Low/absent reflexes 22 (71 %)
 Weakness facial muscles 16 (52 %)
 Scoliosis 16 (52 %)
 Muscle tone decreased 13 (42 %)
 Scapular winging 12 (39 %)
 Muscle atrophy 11 (35 %)
 Contractures 9 (29 %)
 Low body weight 9 (29 %)
 Ptosis 0 (0 %)
Physical limitations  
 Standing up from supine position 18 (58 %)
 Flexing the neck in supine position 17 (55 %)
 Standing up from sitting on heels 13 (42 %)
 Climbing stairs 13 (42 %)
 Rising from a chair 10 (32 %)
 Erecting back in prone position 8 (26 %)
  1. Four deep tendon reflexes were tested: the biceps reflex, the triceps reflex, the knee-jerk reflex, and the ankle-jerk reflex