Table 1.
Clinical characteristics and immunotyping of cases with congenital muscular dystrophy
| Parameter | Merosin deficient CMD (n=15, 26.3%) | Ullrich CMD (n=11, 19.2%) | α-Dystroglycanopathy (n=7, 12.3%) | Uncharacterized (n=24, 42.2%) |
|---|---|---|---|---|
| Mean age at presentation | 3.7 years | 5.3 years | 6.3 years | 7.2 years |
| M: F ratio | 1.5:1 | 1.2:1 | 1.3:1 | 1.6:1 |
| Mean creatinine kinase | 1657 U/L | Normal | 2371 U/L | 1233 U/L |
| MRI * | White matter hyperintensities-8/8 | Normal-2/2 | pachygyria, lissencephaly. and cerebellar cyst-1/1 (WWS) | White matter hyperintensities-3/3 |
| Positive family history * | 2/3 | 2/2 | NA | 2/6 |
| Hypotonia | 15 | 11 | 7 | 22 |
| Motor delay | 14 | 9 | 4 | 17 |
| Myopathic facies | 8 | 5 | 4 | 10 |
| Soft velvety palms & soles | 0 | 9 | 4 | 8 |
| Multiple contractures | 11 | 7 | 6 | 19 |
| Distal joint hyperextensibility | 1 | 9 | 1 | 12 |
| Prominent calcaneum | 2 | 4 | 3 | 5 |
| Seizures | 0 | 0 | 1 | 0 |
| Laminin α2 | Complete loss-15 | Preserved | Reduced-3 Preserved-4 | Preserved |
| Laminin α5 | Overexpression-7 | Limited to blood vessels | Limited to blood vessels | Limited to blood vessels- 22 Overexpression-2 |
| Laminin β1 | Reduced-6 | Preserved | Preserved | Preserved |
| Laminin γ1 | Preserved | Preserved | Preserved | Preserved |
| Collagen VI (A1,2,3) | Preserved | Complete loss-8 Sarcolemmal specific loss-3 | Preserved | Preserved |
| α-DG | Absent-5 Reduced-2 | Preserved | ||
| POMT1 | Absent-1 (WWS) | Preserved |
* Denominator indicates the total number in which data was available, DG: Dystroglycan, CMD: Congenital muscular dystrophy, NA: Not available, WWS—Walker–Warburg syndrome