Bethlem Myopathy, Ullrich Disease
Conditions
Brief summary
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.
Detailed description
See above
Interventions
OTHERObserveational
No intervention, observational
Sponsors
Ruth Salim
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* confirmed Bethlem myopathy or Ulrich disease
Exclusion criteria
* All contraindications for undergoing an MRI scan
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Muscle fat fraction | One MRI scan pr subject (exam lasts approximately 60 min) | The Dixon MRI will be used to quantify the fat fraction in skeletal muscle |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Muscle strength | Exam lasts approximately 40-60 min | MRC in order to test specific muscles in the subjects |
Countries
Denmark
Contacts
Primary ContactRuth Salim, stud.med
Backup ContactJulia Dahlqvist, MD
Outcome results
None listed