Facioscapulohumeral Muscular Dystrophy 1a
Conditions
Brief summary
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy with approximately 500 patients in Denmark. It is characterized by weakness and wasting of the facial muscles, the muscles in the shoulder region and of the legs. The primary aim of this study is to investigate possible links and order between inflammation and fat infiltration in the muscles in patients with FSHD. Approximately 15 patients with FSHD will be recruited for repeated MRI-scans during a year where the inflammation and fat infiltration in the muscles can be quantified.
Interventions
Sponsors
Rigshospitalet, Denmark
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Confirmed FSHD
Exclusion criteria
* All contraindications for undergoing an MRI scan
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Muscle inflammation | One MRI scan per subject (exam lasts approximately 60 min.) | MRI (t2 mapping) will be used to quantify the inflammation in skeletal muscle. |
| Muscle fat fraction | One MRI scan per 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 | One muscle strength test per subject (exam lasts approximately 60 min.) | Isokinetic muscle dynamometry will be used to measure muscle strength. |
Countries
Denmark
Outcome results
None listed