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Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study

Jildou N Dijkstra1, Helena T M Boon1, Anne Koekkoek1

  • 1From the Department of Neurology (J.N.D., H.T.M.B., N.V.A., B.G.M.V.E., N.C.V.); Department of Pediatric Neurology (J.N.D., H.T.M.B., A.K., C.E.E.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Neurology (R.J.M.G.), Jönköping, and Department of Biomedical and Clinical Sciences, Linköping University, Sweden; Department of Rehabilitation (M.M.P., S.L.S.H.), Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital; and Department of Neurology (N.V.A.), Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Neurology
|December 17, 2024
PubMed

Insights

Childhood facioscapulohumeral dystrophy (FSHD) shows variable progression, often unnoticed by patients. Sensitive outcome measures like FSHD-CS and muscle ultrasonography are key for tracking disease in pediatric trials.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Facioscapulohumeral dystrophy (FSHD) is an inherited muscle disorder with a significant proportion of childhood-onset cases.
  • Understanding the natural history and identifying reliable outcome measures for pediatric FSHD is critical for effective clinical management and therapeutic development.

Purpose of the Study:

  • To investigate the natural history of childhood-onset facioscapulohumeral dystrophy (FSHD) over a 5-year period.
  • To identify sensitive clinical and functional outcome measures for pediatric FSHD.

Main Methods:

  • A prospective, nationwide cohort study (iFocus) involving 20 patients with childhood-onset FSHD.
  • Regular assessments included manual muscle testing, functional muscle tests, FSHD clinical score (FSHD-CS), FSHD clinical severity scale (FSHD-CSS), and muscle ultrasonography (MUS) over 5 years.

Main Results:

  • Eighteen patients completed the 5-year follow-up, revealing variable disease progression with a mean FSHD-CS increase of 1.6.
  • Despite objective progression, 89% of participants did not perceive any change in their condition.
  • The most sensitive outcome measures identified were FSHD-CS (SRM 1.07), FSHD-CSS (SRM 0.92), and MUS (SRM 0.68).

Conclusions:

  • Disease progression in childhood FSHD is variable and often clinically unperceived, emphasizing the need for sensitive outcome measures.
  • Quality of life improved, and fatigue decreased over the study period.
  • Future pediatric FSHD studies should utilize larger cohorts, incorporate reachable workspace assessments, muscle ultrasonography, and the FSHD functional composite outcome measure (FSHD-COM).
Abstract

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