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April 10, 2018; 90 (15) Article

A multinational study on motor function in early-onset FSHD

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, For the Cooperative International Neuromuscular Research Group (CINRG) Investigators
First published March 14, 2018, DOI: https://doi.org/10.1212/WNL.0000000000005297
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Abstract

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.

Glossary

BMI=
body mass index;
CINRG=
Cooperative International Neuromuscular Research Group;
CSS=
clinical severity score;
4SC=
4-step climb test;
FSHD=
facioscapulohumeral dystrophy;
MMT=
manual muscle testing;
QMT=
quantitative muscle testing;
ROM=
range of motion;
SA=
serratus anterior;
6MWT=
6-minute walk test;
SS=
stand from supine test;
10MWR=
10-m walk/run test

Footnotes

  • Received August 1, 2017.
  • Accepted in final form January 11, 2018.
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