TY - JOUR

T1 - MRI as outcome measure in facioscapulohumeral muscular dystrophy

T2 - 1-year follow-up of 45 patients

AU - Andersen, Grete

AU - Dahlqvist, Julia R

AU - Vissing, Christoffer R

AU - Heje, Karen

AU - Thomsen, Carsten

AU - Vissing, John

PY - 2017

Y1 - 2017

N2 - There is no effective treatment available for facioscapulohumeral muscular dystrophy type 1 (FSHD1), but emerging therapies are under way that call for a better understanding of natural history in this condition. In this prospective, longitudinal study, we used quantitative MRI to assess yearly disease progression in patients with FSHD1. Ambulatory patients with confirmed diagnosis of FSHD1 (25/20 men/women, age 20-75 years, FSHD score: 0-12) were tested with 359-560-day interval between tests. Using the MRI Dixon technique, muscle fat replacement was evaluated in paraspinal, thigh, and calf muscles. Changes were compared with those in FSHD score, muscle strength (hand-held dynamometry), 6-minute-walk-distance, 14-step-stair-test, and 5-time-sit-to-stand-test. Composite absolute fat fraction of all assessed muscles increased by 0.036 (CI 0.026-0.046, P < 0.001), with increases in all measured muscle groups. The clinical severity FSHD score worsened (10%, P < 0.05), muscle strength decreased over the hip (8%), neck (8%), and back (17%) (P < 0.05), but other strength measures, 6-minute-walk-distance, 5-times-sit-to-stand-test, and 14-step-stair-test were unchanged. Changes in muscle strength, FSHD score, and fat fraction did not correlate. This first study to systemically monitor quantitative fat replacement longitudinally in FSHD1 shows that MRI provides an objective measure of disease progression, often before changes can be appreciated in strength and functional tests. The study indicates that quantitative MRI can be a helpful end-point in follow-up and therapeutic trials of patients with FSHD1.

AB - There is no effective treatment available for facioscapulohumeral muscular dystrophy type 1 (FSHD1), but emerging therapies are under way that call for a better understanding of natural history in this condition. In this prospective, longitudinal study, we used quantitative MRI to assess yearly disease progression in patients with FSHD1. Ambulatory patients with confirmed diagnosis of FSHD1 (25/20 men/women, age 20-75 years, FSHD score: 0-12) were tested with 359-560-day interval between tests. Using the MRI Dixon technique, muscle fat replacement was evaluated in paraspinal, thigh, and calf muscles. Changes were compared with those in FSHD score, muscle strength (hand-held dynamometry), 6-minute-walk-distance, 14-step-stair-test, and 5-time-sit-to-stand-test. Composite absolute fat fraction of all assessed muscles increased by 0.036 (CI 0.026-0.046, P < 0.001), with increases in all measured muscle groups. The clinical severity FSHD score worsened (10%, P < 0.05), muscle strength decreased over the hip (8%), neck (8%), and back (17%) (P < 0.05), but other strength measures, 6-minute-walk-distance, 5-times-sit-to-stand-test, and 14-step-stair-test were unchanged. Changes in muscle strength, FSHD score, and fat fraction did not correlate. This first study to systemically monitor quantitative fat replacement longitudinally in FSHD1 shows that MRI provides an objective measure of disease progression, often before changes can be appreciated in strength and functional tests. The study indicates that quantitative MRI can be a helpful end-point in follow-up and therapeutic trials of patients with FSHD1.

KW - Adipose Tissue

KW - Adult

KW - Aged

KW - Clinical Trials as Topic

KW - Disease Progression

KW - Female

KW - Follow-Up Studies

KW - Humans

KW - Image Interpretation, Computer-Assisted/methods

KW - Longitudinal Studies

KW - Magnetic Resonance Imaging/methods

KW - Male

KW - Middle Aged

KW - Muscle Strength

KW - Muscle, Skeletal/diagnostic imaging

KW - Muscular Dystrophy, Facioscapulohumeral/diagnostic imaging

KW - Outcome Assessment (Health Care)/methods

KW - Prospective Studies

KW - Severity of Illness Index

KW - Young Adult

U2 - 10.1007/s00415-016-8361-3

DO - 10.1007/s00415-016-8361-3

M3 - Journal article

C2 - 28000006

VL - 264

SP - 438

EP - 447

JO - Deutsche Zeitschrift fur Nervenheilkunde

JF - Deutsche Zeitschrift fur Nervenheilkunde

SN - 0939-1517

IS - 3

ER -