MR in Patients With Collagen VI Related Myopathies
MR in Patients With Collagen VI Related Myopathies
Collagen VI-related diseases include Bethlem myopathy and Ulrich dystrophy. They are both
 caused by decreased levels or a lack of collagen VI. The first symptoms can be present at
 birth as joint laxity and hypotonic muscles; often seen with luxation of the hip and
 scoliosis. During childhood, patients may develop contractures of fingers, wrists, elbows and
 ankles. Muscle weakness often appears in childhood to early adulthood and is progressive. It
 often results in walking difficulties.

 There is no treatment available for Behtlem and Ulrich dystrophies.

 The primary aim of this study is to investigate the pattern of involved muscles, the function
 and quality of the muscles and the disease severity using MRI.
See above
Inclusion Criteria:

 -  confirmed Bethlem myopathy or Ulrich disease

 Exclusion Criteria:

 -  All contraindications for undergoing an MRI scan