Kennedy disease is an inherited neuromuscular disorder that is characterized by progressive muscle wasting and weakness. It typically starts with muscle spasms and tremors in the arms, followed by muscle weakness and atrophy of muscles in the arms and legs. The facial and bulbar muscles are also involved. However, the muscle involvement pattern has not been investigated systemically in Kennedy disease. The primary aim of the study is to investigate the muscle involvement in patients with Kennedy disease using MRI. Secondary aims are to examine disease severity and to test MRI as a potential outcome measure for future clinical trials in Kennedy disease. Approximately 40 patients with Kennedy disease and 20 gender and age matched healthy voluntary controls will be recruited. The study consists of one visit per subject lasting 4-5 hours.
Study Type
OBSERVATIONAL
Enrollment
53
Copenhagen Neuromuscular Center
Copenhagen, Denmark
Muscle fat fraction
The Dixon MRI will be used to quantify the fat fraction in skeletal muscle.
Time frame: One MRI scan per subject (exam lasts approximately 60 min.)
Muscle strength
Isokinetic muscle dynamometry will be used to measure muscle strength.
Time frame: One muscle strength test per subject (exam lasts approximately 60 min.)
Minimal dataset for data collection in Kennedy disease
The 'minimal dataset for data collection in Kennedy disease' will be used to investigate the clinical spectrum of Kennedy disease.
Time frame: Data will be collected once for patients with Kennedy disease (exam lasts approximately 90 min.)
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