MR in Patients With Neuromuscular Diseases
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Bethlem Myopathy
- Sponsor
- Ruth Salim
- Enrollment
- 20
- Locations
- 1
- Primary Endpoint
- Muscle fat fraction
- Last Updated
- 7 years ago
Overview
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
Investigators
Ruth Salim
Medical student
Rigshospitalet, Denmark
Eligibility Criteria
Inclusion Criteria
- •confirmed Bethlem myopathy or Ulrich disease
Exclusion Criteria
- •All contraindications for undergoing an MRI scan
Outcomes
Primary Outcomes
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
Secondary Outcomes
- Muscle strength(Exam lasts approximately 40-60 min)