Publications by authors named "Helena T M Boon"
Article Synopsis
- FSHD is a genetic muscle disorder that can start in childhood, affecting about 20% of patients early on. Understanding its progression and outcomes is important for care and research.
- A study followed 20 childhood-onset FSHD patients over 5 years, assessing muscle function and disease severity with various tests. Most participants did not notice changes in their condition, despite measurable progression.
- Results showed variable disease progression, with improvements in quality of life and decreased fatigue. The study emphasizes the need for more sensitive outcome measures and larger international studies in future pediatric research.
Background And Objectives: Quality of life (QoL) in children with facioscapulohumeral dystrophy (FSHD) seems plausible decreased. Little is known about factors influencing QoL in children with FSHD. Our objective is to explore factors contributing to the QoL of children, adolescents, and young adults with FSHD, to describe how they experience life with FSHD, and to report their support needs.
View Article and Find Full Text PDFBackground: The slow channel syndrome is a rare hereditary disorder caused by a dominant gain-of-function variant in one of the subunits of the acetylcholine receptor at the neuromuscular junction. Patients typically experience axial, limb and particularly extensor finger muscle weakness.
Objective: Age at diagnosis is variable and although the long-term prognosis is important for newly diagnosed patients, extensive follow-up studies are rare.