Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy.

ABSTRACT:

Background

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in the pediatric population. The manifestations of this disease include progressive muscle weakness, gait dysfunction, and motor impairment, leading to a loss of ambulation by the age of 13 years. Molecular diagnosis is the standard diagnostic tool for DMD. This study aimed to investigate disease progression and genetic patterns in Iranian ambulant boys and to find the correlation between genotypes and motor function phenotypes.

Methods

This study was performed on 152 DMD patients. Clinical history, including the disease phenotype, steroid therapy, and the North Star Ambulatory Assessment (NSAA) score, was taken for all the patients. Molecular diagnoses were confirmed by multiplex ligation-dep

SUBMITTER: Zamani G 

PROVIDER: S-EPMC9059913 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature