Myotonic Dystrophy 1

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Myotonic dystrophy type 1 (DM1) (Steinert disease) is the most common adult muscular dystrophy and is caused by an unstable CTG trinucleotide repeat expansion in the 3’ untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene.  In general, affected patients with larger CTG expansions have more severe clinical phenotypes and earlier onset.

Molecular genetic testing of DMPK is required to confirm clinical diagnosis of DM1 in suspected individuals with characteristic muscle weakness. Early diagnosis of at-risk family members of DM1 patients would allow early intervention and management with medication for symptoms such as cardiac manifestations, diabetes mellitus, and cataracts.

 

Brochure for download here

 

 

Changing the Landscape for Myotonic Dystrophy Testing

The FastDM1™ kits are a complete suite of robust molecular diagnostic kits which will provide a comprehensive way to meet your testing needs. Please click on the respective product profiles for more information about the various test kits.

 

 

 

 

 

 

 

     DMPK Identification Kit                                                                                 DMPK Sizing Kit

 

 

 

Potential Use for FastDM1™ 

 

The CTG repeat mutation in the DMPK gene is responsible for muscle weakness in affected individuals and a range of symptoms including cardiac manifestations, cataracts and diabetes mellitus.  FastDM1™ DMPK analysis kits allow high throughput sample processing without compromising sensitivity.