Ullrich congenital muscular dystrophy 1C

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 or

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 or heterozygous mutation in the COL6A3 gene on chromosome 2q37.

Signs and symptoms

• Distal joint hypermobility
• Hypotonia
• Hip contracture
• Pelvic girdle muscle weakness
• Shoulder girdle muscle weakness
• Neck flexor weakness
• Delayed ability to walk
• Ankle contracture
• Knee contracture
• Kyphoscoliosis