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.
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 Bethlem 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.
- Muscle fat fraction [ Time Frame: One MRI scan pr subject (exam lasts approximately 60 min) ]
- The Dixon MRI will be used to quantify the fat fraction in skeletal muscle
- Muscle strength [ Time Frame: Exam lasts approximately 40-60 min ]
- MRC in order to test specific muscles in the subjects
Ages Eligible for Study: 18 Years and older (Adult, Older Adult)
Sexes Eligible for Study: All
Accepts Healthy Volunteers: Yes
Confirmed Bethlem myopathy or Ulrich disease
All contraindications for undergoing an MRI scan
Copenhagen Neuromuscular Center
Copenhagen, Østerbro, Denmark, 2100
John Vissing, Prof., MD
Contact: Ruth Salim, stud.med
Phone: +45 24 64 84 87