Chronic Progressive External Ophthalmoplegia
Conditions
Brief summary
The purpose of this study is to investigate the fraction of fat on a MRI scan of lower bag muscles, thighs and calves in patients with the mitochondrial disease chronic progressive external ophthalmoplegia (CPEO). Additionally an investigation of the volume of the eye muscles will be done and compared to the patient's clinical presentation of ptosis and ophthalmoplegia.
Detailed description
The lack of energy and fatigue seen in patients with mitochondrial diseases have been assumed to be caused by an energy defect because of a genetic defect in the mitochondrial DNA. The investigators have analyzed a few MRI scans of muscles from patients with CPEO and have seen an extended amount of fat in their muscles, which seems to progress with age. The patient's symptoms might be caused by the extended amount of fat and thereby a less amount of active muscle instead of the energy defect. This will be investigated in a group of patients with CPEO and the results will be compared with results from a group of healthy controls.
Interventions
OTHERMagnetic Resonance Imaging
MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.
Sponsors
Rigshospitalet, Denmark
Study design
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
Yes
Inclusion criteria
* Danish patients with verified single large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.
Exclusion criteria
* Patients who have metal implants in the body, for instance surgical clips, cochlear implant, pacemaker etc. * Patients who are pregnant or breast-feeding. * Patients who are claustrophobic
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Fat fraction in the muscles of the lower bag, thighs and calves | 1 day | The investigators will make a 3-point Dixon scan of the muscles of the lower bag, thighs and calves and measure the fraction of fat in these muscles once per patient or control. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Isokinetic muscle dynamometry of ankle flexion | 1 day | Isokinetic muscle dynamometry of ankle flexion. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans. |
| Isokinetic muscle dynamometry of ankle extension | 1 day | Isokinetic muscle dynamometry of ankle extension. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans. |
| Isokinetic muscle dynamometry of knee flexion. | 1 day | Isokinetic muscle dynamometry of knee flexion. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans. |
| Isokinetic muscle dynamometry of knee extension | 1 day | Isokinetic muscle dynamometry of knee extension. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans. |
Other
| Measure | Time frame | Description |
|---|---|---|
| MRI T1 scan of eye muscles | 1 day | Investigation of the volume of the eye muscles on a MRI scan and compare these with the patients clinical presentation of ptosis and ophthalmoplegia. The MRI scan is done once per patient or control and at the same day as the other MRI scans. |
Countries
Denmark
Outcome results
None listed