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Table 2 Clinical characteristics within 22 families a

From: Phenotypical variation within 22 families with Pompe disease

 

Total of families (%)

Presenting symptoms in all siblings (%)

Skeletal muscle weaknessb

13 (59)

Skeletal muscle + bulbar weakness

1 (5)

Variation in first symptomsc

8 (36)

Clinical features (%)

▪ All siblings had a ptosis

4 (18)

▪ All siblings had bulbar weakness

2 (9)

▪ All siblings had scapular winging

1 (5)

Mobility (%)

All siblings were ambulant

11 (50)

One or two siblings were wheelchair-dependentd

10 (45)

All siblings were wheelchair-dependent

1 (5)

Ventilation (%)

▪ None of the siblings was ventilator-dependent

12 (54)

▪ One or two siblings were ventilator-dependentd

9 (41)

▪ All siblings were ventilator-dependent

1 (5)

  1. aData are numbers with percentages. bLimb girdle weakness, delayed motor development. cIn three families one sibling was still asymptomatic. dIn five families consisting of three siblings, one or two siblings were wheelchair or ventilator-dependent, while the other sibling was not.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172