New genetic tests and targeted treatments are improving diagnosis and care for muscle diseases, even though most therapies currently manage rather than cure the conditions, according to a recent review published in the International Journal of Molecular Sciences.
There are many different muscle diseases, including Duchenne muscular dystrophy, dermatomyositis and thymidine kinase 2 deficiency (TK2d). These conditions all affect the muscles but are very different from one another. In the past, doctors mostly grouped them based on symptoms and what muscle tissue looked like under a microscope, which made it difficult to distinguish between different conditions. Today, scientists understand much more about what happens at the genetic and cellular level in different muscle diseases.
We now know that myopathies can be inherited or develop later in life. They may be linked to problems with muscle structure, energy use, inflammation, hormones, or — like TK2d — mitochondria (the parts of cells that make energy).
New genetic testing methods, such as advanced DNA sequencing, have helped doctors find the exact cause in many patients. Over 250 genes encoded in nuclear DNA have been tied to mitochondrial myopathies alone, among them the TK2 gene that causes TK2d.
Scientists have also discovered “biomarkers,” which are measurable signs in the blood or body that help track how a disease is progressing.
This deeper understanding has led to new treatments. Some therapies aim to fix or adjust faulty genes. Others target the immune system, support energy production, improve calcium balance, or help muscles repair themselves. While many treatments cannot cure myopathies yet, they may slow the disease or ease symptoms.
Read more about TK2d treatment and care
Even with these advances, myopathies remain complex. People with the same diagnosis can have different symptoms and responses to treatment. Because of this, doctors are moving toward “precision medicine,” where care is tailored to each person.
“Looking ahead, the integration of artificial intelligence, bioinformatics, and novel biomarkers promises to accelerate precision medicine, providing adaptive and personalized strategies for patient care,” the researchers said.
Sign up here to get the latest news, perspectives, and information about TK2d sent directly to your inbox. Registration is free and only takes a minute.