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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Patients with verified singe large-scale mtDNA deletions and chronic progressive external ophthalmoplegia. |
| |
| Controls | Healthy controls matched for age and gender. |
| |
| Patient group as Controls | Patients with mitochondrial DNA 3243A>G mutations |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Magnetic Resonance Imaging | Other | MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Fat fraction in the muscles of the lower bag, thighs and calves | 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. | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Isokinetic muscle dynamometry of ankle flexion | 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. | 1 day |
| Isokinetic muscle dynamometry of ankle extension |
| Measure | Description | Time Frame |
|---|---|---|
| MRI T1 scan of eye muscles | 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. | 1 day |
Inclusion Criteria:
Exclusion Criteria:
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Danish patients with verified single large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Neuromuscular Research Unit | Copenhagen | 2100 | Denmark |
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| ID | Term |
|---|---|
| D017246 | Ophthalmoplegia, Chronic Progressive External |
| ID | Term |
|---|---|
| D017240 | Mitochondrial Myopathies |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009886 | Ophthalmoplegia |
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| ID | Term |
|---|---|
| D009682 | Magnetic Resonance Spectroscopy |
| ID | Term |
|---|---|
| D013057 | Spectrum Analysis |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |
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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. |
| 1 day |
| Isokinetic muscle dynamometry of knee flexion. | 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. | 1 day |
| Isokinetic muscle dynamometry of knee extension | 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. | 1 day |
| D015835 |
| Ocular Motility Disorders |
| D003389 | Cranial Nerve Diseases |
| D009422 | Nervous System Diseases |
| D010243 | Paralysis |
| D009461 | Neurologic Manifestations |
| D009468 | Neuromuscular Diseases |
| D005128 | Eye Diseases |
| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D002908 | Chronic Disease |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D012816 | Signs and Symptoms |