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.
Study Type
OBSERVATIONAL
Enrollment
133
MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.
Neuromuscular Research Unit
Copenhagen, Denmark
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.
Time frame: 1 day
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.
Time frame: 1 day
Isokinetic muscle dynamometry of ankle extension
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.
Time frame: 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.
Time frame: 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.
Time frame: 1 day
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.