Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.

Dora Batia Dyne SteelMarion MainAdnan ManzurFrancesco MuntoniPinki Munot

Published in: Developmental medicine and child neurology (2019)

Young children often present with non-muscular pathology in facioscapulohumeral dystrophy type 1 (FSHD1), especially hearing loss. Age at onset in paediatric FSHD1 appears bimodal: under 5 years or in adolescence. Prolonged delays to diagnosis are common. Children with very early-onset FSHD1 may require nutritional and/or respiratory support. Developmental and psychiatric comorbidities are common.

Keyphrases

muscular dystrophy
early onset
late onset
hearing loss
duchenne muscular dystrophy
young adults
intensive care unit
mental health
depressive symptoms
emergency department
resistance training
childhood cancer