Table 2 Recruited patients with undermined muscle disease
From: Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Clinical presentation | Nbr of patients (pediatric patients) | Proportion of clinical presentations (%) | Proportion of diagnoses (%) |
|---|---|---|---|
Motor delay or generalized hypotonia | 4 (4) | 4/34 (11.8%) | 2/11 (18%) |
Limb-girdle muscle weakness | 17 (1) | 17/34 (50.0%) | 6/11 (55%) |
Proximal and distal limb muscle weakness | 4 (2) | 4/34 (11.8%) | 3/11 (27%) |
Other muscle weakness | 3 (0) | 3/34 (8.8%) | 0/11 (0%) |
Chronic and unexplained hyperCKemia | 6 (0) | 6/34 (17.6%) | 0/11 (0%) |
Total | 34 (7) | 100% | 11/34 (32%) |