Science News: Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-Up 4/19/2022
This is a small 2-year follow-up study of genetically confirmed facioscapulohumeral dystrophy (FSHD) cases from the Netherlands. On clinical examination, facial weakness was observed as a sign of disease progression. FSHD clinical score 0-15 and muscle ultrasound Z score appeared to be most promising outcome measures of progression. Despite disease progression, children may still notice improvement in functional capacity, including the 6-minute walk test. Pain, fatigue, and decreased quality of life were common symptoms during follow-up.