Debrancher deficiency myopathy: characteristics of distinct clinical phenotypes (n=83)
| Phenotype | n (%) | Male:female ratio | CK (x normal) | Slow NCV (%) | CMP [Severe CMP] | Liver disease [Severe LD] | Response to therapy |
|---|---|---|---|---|---|---|---|
| Distal myopathy | 8 (10%) | 3:1 | 6–33 | 7 (88) | 6 (75%) [n=0] | 3 (50%) [n=0] | N/A |
| Generalised myopathy: | |||||||
| Juvenile onset | 24 (29%) | 2:1 | 2—33 | 2 (8) | 12 (80%) [n=0] | 18 (90%) [n=1] | ++ |
| Adult onset | 16 (19%) | 4:1 | 10–45 | 6 (37) | 9 (100%) [n=0] | 8 (67%) [n=2] | (+) |
| Myopathy of respiratory muscles | 1 (1%) | 0:1 | 5 | 0 | 1 (100%) [n=1] | 0 | ++ |
| Minimal variant myopathy | 34 (41%) | 3:1 | 5–15 | 4 (12) | 16 (76%) [n=3] | 31 (94%) [n=3] | N/A |
CK=creatine kinase; NCV=nerve conduction velocity; CMP=cardiomyopathy (pathological electrocardiogram and/ or echocardiography; severe CMP=heart failure; LD=liver disease; severe LD=cirrhosis; NA=data not available.