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Ullrich congenital muscular dystrophy

MIM.254090

Tuesday 23 September 2003

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)