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

Publication ,  Journal Article
Mah, JK; Feng, J; Jacobs, MB; Duong, T; Carroll, K; de Valle, K; Carty, CL; Morgenroth, LP; Guglieri, M; Ryan, MM; Clemens, PR; Thangarajh, M ...
Published in: Neurology
April 2018

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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Published In

Neurology

DOI

EISSN

1526-632X

ISSN

0028-3878

Publication Date

April 2018

Volume

90

Issue

15

Start / End Page

e1333 / e1338

Related Subject Headings

  • Young Adult
  • Severity of Illness Index
  • Range of Motion, Articular
  • Neurology & Neurosurgery
  • Muscular Dystrophy, Facioscapulohumeral
  • Muscle Weakness
  • Motor Activity
  • Male
  • Humans
  • Female
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Mah, J. K., Feng, J., Jacobs, M. B., Duong, T., Carroll, K., de Valle, K., … Cooperative International Neuromuscular Research Group (CINRG) Investigators, . (2018). A multinational study on motor function in early-onset FSHD. Neurology, 90(15), e1333–e1338. https://doi.org/10.1212/wnl.0000000000005297
Mah, Jean K., Jia Feng, Marni B. Jacobs, Tina Duong, Kate Carroll, Katy de Valle, Cara L. Carty, et al. “A multinational study on motor function in early-onset FSHD.Neurology 90, no. 15 (April 2018): e1333–38. https://doi.org/10.1212/wnl.0000000000005297.
Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, de Valle K, et al. A multinational study on motor function in early-onset FSHD. Neurology. 2018 Apr;90(15):e1333–8.
Mah, Jean K., et al. “A multinational study on motor function in early-onset FSHD.Neurology, vol. 90, no. 15, Apr. 2018, pp. e1333–38. Epmc, doi:10.1212/wnl.0000000000005297.
Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, de Valle K, Carty CL, Morgenroth LP, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith E, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Cnaan A, Chen Y-W, Cooperative International Neuromuscular Research Group (CINRG) Investigators. A multinational study on motor function in early-onset FSHD. Neurology. 2018 Apr;90(15):e1333–e1338.

Published In

Neurology

DOI

EISSN

1526-632X

ISSN

0028-3878

Publication Date

April 2018

Volume

90

Issue

15

Start / End Page

e1333 / e1338

Related Subject Headings

  • Young Adult
  • Severity of Illness Index
  • Range of Motion, Articular
  • Neurology & Neurosurgery
  • Muscular Dystrophy, Facioscapulohumeral
  • Muscle Weakness
  • Motor Activity
  • Male
  • Humans
  • Female