ARE NEUROMUSCULAR DISORDERS GENETIC?
Patients and families often ask their healthcare providers about whether neuromuscular disorders are genetic. The short answer is yes – many neuromuscular disorders are caused by genetic mutations that affect the nerves and muscles. This blog will dive deeper into this topic and explain how genetic testing can help diagnose and inform treatment for these conditions.
Neuromuscular disorders are a group of conditions that affect the nerves that control voluntary muscles. There are many different types of neuromuscular disorders, but some of the most well-known ones include muscular dystrophy, congenital myopathies, and Charcot-Marie-Tooth disease. These conditions can be caused by mutations in specific genes that affect the function of the nervous system or the muscles themselves.
It’s important to note that not all neuromuscular disorders are genetic. Some may be caused by factors such as autoimmune diseases, infections, or injuries to the nervous system or muscles. However, many neuromuscular disorders do have a known genetic cause, and understanding the genetic basis of these conditions is important for diagnosis and treatment.
Genetic Sequencing for Diagnosing Neuromuscular Disorders
Genetic sequencing is one method that can be used to diagnose neuromuscular disorders. Baylor Genetics offers a Neuromuscular Disorders Panel that assesses many genes based on a single clinical indication. This panel analyzes 142 well-studied, actionable genes related to many neuromuscular disorders, including congenital myopathies, distal myopathies, congenital muscular dystrophies, and limb girdle muscular dystrophies. This thorough analysis can help clinicians and their patients achieve an accurate diagnosis sooner, leading to a better understanding of the prognosis and anticipated disease progression.
Genetic testing can also help inform family planning and neonatal care. For example, if a person is pregnant and having an ultrasound, certain neuromuscular conditions may be visible, such as arthrogryposis or joint contractures. This may prompt prenatal diagnosis so families can be prepared for the birth of a child who may need extra support and care.
While genetic testing is accurate, there are limitations. Some tests reveal variants of uncertain significance, indicating a change in an individual’s DNA was found, however there is not enough scientific or clinical information to determine whether this change is related to disease or symptoms. A negative result may also be uninformative, as not all genes related to a condition or symptoms are present on a specific test.
The Longer-Term Significance of Genetic Sequencing for Neuromuscular Disorders
In the long term, genetic testing can identify variants that contribute not only to an individual patient’s health outcome but also to a better clinical understanding of neuromuscular disorders in general. The more people that have genetic testing, the more data researchers have available to gain a better understanding of the causes of disease. This can help identify new genes, disease subtypes, and potential therapies for people with neuromuscular conditions.
In conclusion, while not all neuromuscular disorders are genetic in nature, many are caused by genetic mutations that affect the nerves and muscles. Genetic testing, such as Baylor Genetics’ Neuromuscular Disorders Panel, can be a valuable tool in diagnosing these conditions and providing patients with a better understanding of their disease progression. As more individuals receive genetic testing, researchers may be able to develop new treatments or even cures for these debilitating conditions.
For more details on Baylor Genetics’ Neuromuscular Disorder Panel and to start a test order, please click here.