MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants

This study uses MRI imaging to document and map muscle patterns in people who have two abnormal (pathogenic) variants in the anoctamin-5 (ANO5) gene — a genetic cause of a type of muscular dystrophy. The goal is to understand which muscles are affected and how the disease progresses over time. You may be eligible if: • You have two identified pathogenic (disease-causing) variants in the anoctamin-5 gene • You have or can obtain T1-weighted MRI images of your lower back and leg muscles You may NOT be eligible if: • You have another condition that also causes muscle wasting, such as a nerve disorder (polyneuropathy), another muscle disease, or prolonged critical illness Talk to your doctor to see if this trial is right for you.