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A multinational study on motor function in early-onset FSHD.

Journal article
Authors Jean K Mah
Jia Feng
Marni B Jacobs
Tina Duong
Kate Carroll
Katy de Valle
Cara L Carty
Lauren P Morgenroth
Michela Guglieri
Monique M Ryan
Paula R Clemens
Mathula Thangarajh
Richard Webster
Edward Smith
Anne M Connolly
Craig M McDonald
Peter Karachunski
Mar Tulinius
Amy Harper
Avital Cnaan
Yi-Wen Chen
Published in Neurology
Volume 90
Issue 15
Pages e1333-e1338
ISSN 1526-632X
Publication year 2018
Published at Institute of Clinical Sciences
Pages e1333-e1338
Language en
Subject categories Neurology


To investigate motor function associations with age, sex, and D4Z4 repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age.We collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers. To measure associations, we used linear regression models adjusted for sex, evaluation age, age at onset of weakness, and D4Z4 repeats.Among 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older enrollment age was associated with greater CSSs (p = 0.003). When adjusted for enrollment age, sex, and D4Z4 repeats, younger age at onset of facial weakness was associated with greater CSSs, slower velocities in timed function tests, and lower MMT scores (p < 0.05).Significant clinical variability was observed in early-onset FSHD. Earlier age at onset of facial weakness was associated with greater disease severity. Longitudinal assessments are needed to determine the rate of disease progression in this population.

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