FSHD - Facioscapulohumeral Muscular Dystrophy
Conditions
Keywords
FSHD, MRI, Disease progression
Brief summary
An investigation of disease progression in adult danish patients with facioscapulohumeral muscular dystrophy. The disease progression is followed for a year with two test-days, including functional muscle tests and a MRI scan of muscles in the back and legs.
Detailed description
A cohort of adult danish patients with facioscapulohumeral muscular dystrophy is invited to perform a MRI scan to describe the relation between backpain and disease affection in back muscles. After one year they are re-invited to perform another MRI scan to follow the disease progression. The MRI scan is done to measure the quantity and quality of the muscles in the back, thigh and calf. Further, investigators investigate the muscle function by measuring of muscle strength in legs and in the back together with three functional tests. A walking test (6MWT), a stair test (14SST), and a chair test (5-TSTST). Self-assessment of back pain is measured by a standardized questionnaire about backpain.
Interventions
OTHERMRI
MRI scan of muscles in the back and legs. Including T1, DIXON and STIR images.
Sponsors
Grete Andersen, MD
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
* Diagnosed with FSHD type 1
Exclusion criteria
* Pregnant or breastfeeding women. * Patients with claustrophobia. * Patients with implanted metallic parts in the body.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Fat infiltration | 1 year | Change in the distribution of fat infiltration in back, thigh and calves muscles seen at the MRI images. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Muscle structure | 1 year | Muscle structure is evaluated with a four-point semi-quantitative visual scale. Two observers evaluate images independently. Changes in evaluation between 1st and 2nd scan are the outcome measure. |
| Muscle strength | 1 year | Changes in muscle strength between 1st. and 2nd MRI-scan. |
| Back pain | 1 year | Changes in self-assessed back-pain between 1st. and 2nd scan. |
| Muscle function | 1 year | Changes in muscle function between 1st and 2nd MRI-scan, measured by a 6 minute walk test, a 14-step-stair test and a 5-times-sit-to-stand-test. |
Countries
Denmark
Outcome results
None listed