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

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Fältnamn	Indikatorer	Metadata
000		03150naa a2200505 4500
001		oai:gup.ub.gu.se/266759
003		SwePub
008		240528s2018 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/2667592 URI
024	7	a https://doi.org/10.1212/WNL.00000000000052972 DOI
040		a (SwePub)gu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Mah, Jean K4 aut
245	1 0	a A multinational study on motor function in early-onset FSHD.
264	1	c 2018
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
700	1	a Feng, Jia4 aut
700	1	a Jacobs, Marni B4 aut
700	1	a Duong, Tina4 aut
700	1	a Carroll, Kate4 aut
700	1	a de Valle, Katy4 aut
700	1	a Carty, Cara L4 aut
700	1	a Morgenroth, Lauren P4 aut
700	1	a Guglieri, Michela4 aut
700	1	a Ryan, Monique M4 aut
700	1	a Clemens, Paula R4 aut
700	1	a Thangarajh, Mathula4 aut
700	1	a Webster, Richard4 aut
700	1	a Smith, Edward4 aut
700	1	a Connolly, Anne M4 aut
700	1	a McDonald, Craig M4 aut
700	1	a Karachunski, Peter4 aut
700	1	a Tulinius, Mar,d 1953u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences4 aut0 (Swepub:gu)xtulim
700	1	a Harper, Amy4 aut
700	1	a Cnaan, Avital4 aut
700	1	a Chen, Yi-Wen4 aut
710	2	a Göteborgs universitetb Institutionen för kliniska vetenskaper4 org
773	0	t Neurologyg 90:15q 90:15x 1526-632X
856	4 8	u https://gup.ub.gu.se/publication/266759
856	4 8	u https://doi.org/10.1212/WNL.0000000000005297

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Neurologi

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