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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