Autosomal recessive congenital muscular dystrophy.
Clinical synopsis
neonatal muscle weakness.
multiple neonatal proximal joint contractures
limited spine motion
hyperextensible distal joints
hip dislocation.
hyperhidrosis
clumsy gait
difficulty climbing stairs
generalized muscle weakness
hypermobility of distal joints in conjunction with variable contractures of more proximal joints
normal intellectual development
Immunochemistry
abnormal immunoreactivity for collagen VI on muscle biopsies
ULtrastructure
ultrastructural abnormalities in skin biopsies (15616974)
- alterations of collagen fibril morphology (variation in size and composite fibers) (15616974)
- increase in ground substance (resemble those seen in Ehlers-Danlos syndrome) (15616974)
Etiology
Recessive or dominant mutations in the three collagen VI genes (COL6s) ((12840783, 15563506)
- COL6A1 (MIM.120220) (12840783)
- COL6A2 (MIM.120240)
- COL6A3 (MIM.120250)
