According to a study published in the Journal of Clinical Investigation, researchers have developed a new catalog to help doctors diagnose limb-girdle muscular dystrophy more precisely. There are dozens of subtypes of limb-girdle muscular dystrophy, a rare, genetic muscle disease characterized by weakness in the hips and shoulders that makes walking and lifting the arms difficult.

In the past, identifying the subtype of a patients condition was not essential in providing care as no treatments were available for specific subtypes. However, with the development of gene therapies and therapies being tailored to particular genetic variations, identifying the genetic origins of every patients illness has gained renewed importance.

In the study, researchers from Washington University have developed a new catalog that could help resolve inconclusive diagnoses. They created a protein from the command given by a known gene associated with the condition. 

They then created variants using this protein by swapping one amino acid for another. They analyzed the functions of the new variants and classified each as harmful or benign. 

Now, doctors can determine the pathogenicity of the variants by using the new catalog as a reference. The researchers noted that this approach utilized to resolve variants of unknown significance for genes linked with limb-girdle muscular dystrophy could be applied to many other genes. 

(Source:https://theprint.in/science/new-approach-has-improved-diagnosis-of-rare-genetic-muscle-disease-study/1628085/ )