Ullrich congenital muscular dystrophy 1A

An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, c

An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.

Signs and symptoms

• Spinal rigidity
• Joint hypermobility
• Scoliosis
• Reduced muscle collagen VI
• Facial palsy
• Recurrent lower respiratory tract infections
• Flexion contracture
• Distal joint hypermobility
• Motor delay
• Wrist hypermobility