biostudies-literatureUnknown2(1)Heskamp LFriends of FSH Research<h4>Background</h4>Facioscapulohumeral dystrophy (FSHD) is a major muscular dystrophy characterized by asymmetric fatty replacement of muscles. We aimed to determine the initiation site and progression profile of the disease in lower extremity muscles of FSHD patients by assessing fat infiltration along their full proximo-distal axis using quantitative MRI.<h4>Methods</h4>Nine patients underwent MRI of lower extremities to assess end-to-end muscle fat fractions (FFs) and inflammatory lesions. Seven patients underwent the same MRI ~3.5 years later. Individual muscles (n = 396) were semi-automatically segmented to calculate average FFs over all slices covering whole muscles. To assess disease progression we determined FF changes in 5 adjacent muscle segments.<h4>Results</h4>We provide evidenCommunications medicine155https://www.ebi.ac.uk/biostudies/studies/S-EPMC9712512biostudies-literatureWhole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy.PMC9712512Heskamp LOgier AHeerschap ABendahan DfalseWhole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy.<h4>Background</h4>Facioscapulohumeral dystrophy (FSHD) is a major muscular dystrophy characterized by asymmetric fatty replacement of muscles. We aimed to determine the initiation site and progression profile of the disease in lower extremity muscles of FSHD patients by assessing fat infiltration along their full proximo-distal axis using quantitative MRI.<h4>Methods</h4>Nine patients underwent MRI of lower extremities to assess end-to-end muscle fat fractions (FFs) and inflammatory lesions. Seven patients underwent the same MRI ~3.5 years later. Individual muscles (n = 396) were semi-automatically segmented to calculate average FFs over all slices covering whole muscles. To assess disease progression we determined FF changes in 5 adjacent muscle segments.<h4>Results</h4>We provide eviden2022-01-01T00:00:00Z2022 Dec2025-04-05T11:51:12.787Z2025-04-05T11:51:12.787ZS-EPMC97125123645086510.1038/s43856-022-00217-1