January 11, 2022ChildrenOpen Access

Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients

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Why the study?

The study aimed to correlate D4Z4 repeat array fragment size with the orofacial muscle weakening observed in patients with a genetically supported diagnosis of facioscapulohumeral muscular dystrophy.

Does D4Z4 repeat array fragment size correlate with orofacial muscle weakening in patients with Facioscapulohumeral muscular dystrophy?

Structured PICO

Does D4Z4 repeat array fragment size correlate with orofacial muscle weakening in patients with Facioscapulohumeral muscular dystrophy?

Population

52 patients (27 female, 25 male) with a genetically supported diagnosis of Facioscapulohumeral muscular dystrophy (FSHD), including 36 with autosomal dominant pedigrees and 16 with sporadic or unknown family status.

Intervention

Molecular genetic analysis of D4Z4 repeat array fragment size using southern blotting

Outcome

Correlation between D4Z4 repeat array fragment size and the degree of muscle weakening in the forehead, periocular, and perioral musclessurrogate

D4Z4 repeat array fragment size has only a weak to moderate, non-significant correlation with orofacial muscle weakening in FSHD patients, limiting its utility as a prognostic biomarker.

Limitations

Small sample size

Implication

D4Z4 size should not guide orofacial prognosis in FSHD; leaves open validation of reliable biomarkers.

Abstract

BACKGROUND: Facioscapulohumeral muscular dystrophy is the third most commonly found type of muscular dystrophy. The aim of this study was to correlate the D4Z4 repeat array fragment size to the orofacial muscle weakening exhibited in a group of patients with a genetically supported diagnosis of FSHD. METHODS: Molecular genetic analysis was performed for 52 patients (27 female and 25 male) from a group that consisted of 36 patients with autosomal dominant pedigrees and 16 patients with either sporadic or unknown family status. The patients were tested with the southern blotting technique, using EcoRI/Avrll double digestion, and fragments were detected by a p13E-11 telomeric probe. Spearman's correlation was used to compare the fragment size with the degree of muscle weakening found in the forehead, periocular and perioral muscles. RESULTS: = 0.085) muscles. CONCLUSIONS: Although FSHD patients exhibited a decrease in muscular activity related to the forehead, perioral, and periocular muscles the genotype-phenotype associations confirmed a weak to moderate non-significant correlation between repeat size and the severity of muscle weakness. Orofacial muscle weakening and its association with a D4Z4 contraction alone may not have the significance to serve as a prognostic biomarker, due to the weak to moderate association. Further studies with larger sample sizes are needed to determine the degree of genetic involvement in the facial growth in FSHD patients.