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Functional Near Infrared Spectroscopy of the Sensory and Motor Brain Regions with Simultaneous Kinematic and EMG Monitoring During Motor Tasks
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A multinational study on motor function in early-onset FSHD.

Jean K Mah1, Jia Feng2, Marni B Jacobs2

  • 1From the University of Calgary (J.K.M.), Alberta Children's Hospital, Canada; Children's National Medical Center (J.F., M.B.J., C.L.C., L.M., M.T., A.C., Y.-W.C.), Washington, DC; Stanford University (T.D.), CA; Royal Children's Hospital (K.C., K.d.V., M.M.R.), Melbourne, Australia; Newcastle Upon Tyne Hospitals (M.G.), UK; University of Pittsburgh (P.R.C.) and the Department of Veteran Affairs Medical Center, PA; Children's Hospital at Westmead (R.W.), Sydney, Australia; Duke Medical Center (E.S.), Durham, NC; Washington University (A.M.C.), St. Louis, MO; University of California at Davis Medical Center (C.M.M.), Sacramento; University of Minnesota (P.K.), Minneapolis; Gothenburg University (M.T.), Queen Silvia Children's Hospital, Sweden; Carolinas Medical Center (A.H.), Charlotte, NC; and Therapeutic Research in Neuromuscular Disorders Solutions (L.P.M.), LLC, Kensington, MD. jkmah@ucalgary.ca.

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|March 16, 2018
PubMed
Summary
This summary is machine-generated.

Early-onset facioscapulohumeral muscular dystrophy (FSHD) shows significant variability. Younger age at facial weakness onset correlates with increased disease severity and poorer motor function in FSHD patients.

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Area of Science:

  • Neurology
  • Genetics
  • Muscular Dystrophy Research

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is a progressive genetic disorder affecting skeletal muscles.
  • Early-onset FSHD presents unique challenges in understanding disease progression and variability.
  • The D4Z4 repeat region is a key genetic factor associated with FSHD.

Purpose of the Study:

  • To investigate associations between motor function and factors like age, sex, and D4Z4 repeats in early-onset FSHD type 1.
  • To identify predictors of disease severity in young individuals diagnosed with FSHD.

Main Methods:

  • Collected standardized motor assessments (MMT, quantitative muscle testing, functional tests, CSS) from 52 early-onset FSHD participants.
  • Utilized linear regression models to analyze associations, adjusting for age, sex, and D4Z4 repeat counts.
  • Data gathered from 12 Cooperative International Neuromuscular Research Group centers.

Main Results:

  • Weakness predominantly affected shoulder and abdominal muscles.
  • Older enrollment age correlated with higher clinical severity scores (CSSs).
  • Younger age at facial weakness onset was linked to greater CSSs, slower functional test velocities, and lower MMT scores, even after adjustments.

Conclusions:

  • Early-onset FSHD exhibits considerable clinical variability.
  • An earlier onset of facial weakness is a significant indicator of increased disease severity.
  • Further longitudinal studies are essential to track disease progression in this population.