Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.

ABSTRACT:

Background

Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a tertiary hospital in Riyadh, Saudi Arabia.

Methods

We reviewed the medical records of patients with hereditary myopathy who were evaluated between January 2018 and December 2022.

Results

Eighty-seven patients (78 families) were included, two-thirds were men with a mean age of 35 (SD 14.2) years. Limb-girdle muscular dystrophy (LGMD) was the most prevalent clinical diagnosis (25 cases; 29%), of whom, a genetic diagnosis was achieved in 15 of 22 patients tested (68%). In genetically confirmed LGMD, the most prevalent di

SUBMITTER: Alhammad RM 

PROVIDER: S-EPMC11373090 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature