The importance of diagnosing muscular diseases and conducting genetic examinations is a key question in the modern medical field.

Muscular diseases are a group of heterogeneous diseases that damage the function of muscles directly and result in movement disorders. A common symptom is disability, including of the eyes, medulla oblongata, and respiratory and/or cardiac muscles. Due to such heterogeneity, diagnosis is very difficult, and disease onset can occur at any stage from infancy to elderly stage.

Due to similarities of clinical manifestations, diseases are difficult to diagnose, therefore genetic testing has played a crucial role and become the latest approach to determining the muscular disease type and sub-type; it is critical for confirming the treatment strategy and prognosis for diseases, and promoting eugenics for a healthy next generation.

Next Generation Sequencing (NGS) currently applied in the hospital can rapidly and simultaneously support the huge demands for genetic testing. This is extremely important for muscular diseases with multiple genes involved. Whole exome sequence (WES) testing is a NGS-applied genetic test which is helpful for screening and testing genetic mutations. Therefore, NGS technology is becoming more important for disease diagnosis. Its cost-effectiveness and high efficiency have allowed it to become the top-selected diagnostic tool. In the era of NGS, the diagnosis of muscular diseases will be more rapid and accurate, replacing traditional diagnostic methods and providing a basis for treatment strategies and genetic counseling.

Two sixty-year-old sisters, sitting in wheelchairs, visited the Tri-Service General Hospital. They encountered the onset of disease in their childhood without knowing the root cause. Some doctors believe that they contracted polio, and others said they had a genetic illness. Through WES genetic testing, the root cause was identified as a rare form of muscle disease, the limb-girdle muscular dystrophy. The sisters finally learned what happened to them.

Though there is no effective drug to treat limb-girdle muscular dystrophy, the discussion earlier about SMA treatment medications has opened up avenues for treating muscular dystrophy. Despite some patients thinking they don’t need to be aggressive or waste money on a diagnosis if there is no treatment available, performing genetic testing has the following advantages:

1.Protects the next generation of your family, as genetic illnesses could be rare inherited diseases that future technology may be able to treat.

2.Increases patient numbers in the rare disease registration system to fight for the opportunity to hold clinical trials and elevate new drug development opportunities for pharmaceutical companies.

3.Avoids unnecessary surgery as the diagnosis reduces the need for unnecessary medical procedures.

Dr. Yen-Lin, Chen, Director of the Center for Precision Medicine and Genomics