1887

Abstract

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder-affecting males, exclusively. DMD has a worldwide reported incidence of 1 per 3500–9000 male children. Although very rare, some cases have been observed in carrier females. DMD is caused by deletions, duplications and point mutations in the DMD gene. However, most of the molecular mutations are deletions in DMD gene that encodes dystrophin, the altered protein in Duchenne and Becker muscular dystrophy. The affected patients have progressive muscle weakness and will be wheelchair bound before or during their teens and eventually develop respiratory and cardiac dysfunction. In addition to the standard supportive therapy, recently there are many emerging genetic therapies for DMD targeting repair of the primary genetic defect. The purpose of this talk is to present the phenotypic and genetic spectrum of DMD patients in Qatar and highlight some of the genetic counseling aspects pertinent to the Qatari population.

Loading

Article metrics loading...

/content/papers/10.5339/qproc.2020.NMD.15
2020-09-15
2020-09-27
Loading full text...

Full text loading...

http://instance.metastore.ingenta.com/content/papers/10.5339/qproc.2020.NMD.15
Loading
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error