Walking alone milestone combined reading-frame rule improves early prediction of Duchenne muscular dystrophy.

ABSTRACT:

Objective

To explore the potential of walking alone milestone combined reading-frame rule to improve the early diagnosis of Duchenne muscular dystrophy (DMD).

Method

To retrospectively describe the genotype and phenotype of Duchenne and Becker muscular dystrophies (BMD) patients with deletions and duplicates in the dystrophin gene. The sensitivity and specificity of the reading frame rule were calculated and compared to that of the combined reading frame rule and walking alone milestone. The diagnostic coincidence rate of two different methods was analyzed.

Result

One hundred sixty-nine male DMD/BMD patients were enrolled, including 17 cases of BMD and 152 cases of DMD. The diagnostic coincidence rate, diagnostic sensitivity, and specificity of the reading-frame rule

SUBMITTER: Ma YL 

PROVIDER: S-EPMC9417149 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature