Ullrich congenital muscular dystrophy 1B

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 COL6A2 gene on chromosome 21q22.

Signs and symptoms

• Hypotonia
• Hip contracture
• Motor delay
• Ankle contracture
• Increased endomysial connective tissue
• Finger joint hypermobility
• Respiratory failure
• Proximal muscle weakness
• Muscle weakness
• Neck flexor weakness