TY - JOUR
T1 - A multinational study on motor function in early-onset FSHD
AU - Mah, Jean K.
AU - Feng, Jia
AU - Jacobs, Marni B.
AU - Duong, Tina
AU - Carroll, Kate
AU - De Valle, Katy
AU - Carty, Cara L.
AU - Morgenroth, Lauren P.
AU - Guglieri, Michela
AU - Ryan, Monique M.
AU - Clemens, Paula R.
AU - Thangarajh, Mathula
AU - Webster, Richard
AU - Smith, Edward
AU - Connolly, Anne M.
AU - McDonald, Craig M.
AU - Karachunski, Peter
AU - Tulinius, Mar
AU - Harper, Amy
AU - Cnaan, Avital
AU - Chen, Yi Wen
N1 - Publisher Copyright:
© 2018 American Academy of Neurology.
PY - 2018/4/10
Y1 - 2018/4/10
N2 - Objectives 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. Methods 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. Results 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). Conclusion 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.
AB - Objectives 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. Methods 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. Results 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). Conclusion 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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U2 - 10.1212/WNL.0000000000005297
DO - 10.1212/WNL.0000000000005297
M3 - Article
C2 - 29540582
AN - SCOPUS:85054060480
SN - 0028-3878
VL - 90
SP - e1333-e1338
JO - Neurology
JF - Neurology
IS - 15
ER -