A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type1.

ABSTRACT:

Rationale

Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 and shoulder weakness before the age of 10. Early-onset facioscapulohumeral muscular dystrophy is relatively rare in the clinic. This onset is relatively early, the symptoms are serious, and it is likely to be accompanied by retinal vascular disease, sensorineural deafness, epilepsy and other extramuscular multisystem diseases. We report the clinical characteristics of 2 patients with early-onset facial and shoulder brachial muscular dystrophy to improve clinicians' understanding of this particular condition.

Patient concerns

We report 2 pediatric patients with FSHD type 1. Patient 1 is an 11-year-old boy with reduced facial expression for 9 years and proxima

SUBMITTER: Xiao T 

PROVIDER: S-EPMC8615324 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature