Decoding the Enigma of Late-Onset Axial Myopathy: A Comprehensive Guide

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Understanding Late-Onset Axial Myopathy

Late-onset axial myopathy is a rare neuromuscular disorder characterized by progressive muscle weakness and atrophy, primarily affecting the axial muscles, which include the muscles of the trunk, neck, and shoulders. Patients with this condition often experience difficulties in maintaining an upright posture, dropped head syndrome, and scoliosis. Although the exact cause of late-onset axial myopathy remains unknown, recent studies have provided valuable insights into its clinical presentation, diagnosis, and the potential role of genetic testing in its management.

Diagnosing Late-Onset Axial Myopathy

Diagnosing late-onset axial myopathy can be challenging, as its symptoms may overlap with other neuromuscular disorders. However, a combination of clinical examination, imaging studies, and muscle biopsy can help confirm the diagnosis. In a recent case report of spinal surgery for a late-onset axial myopathy, the authors describe the successful surgical management of a patient with late-onset scoliosis and dropped head syndrome, highlighting the importance of early diagnosis and appropriate intervention to improve the patient’s quality of life.

Exploring the Role of Genetic Testing in Late-Onset Axial Myopathy

Although late-onset axial myopathy is not considered a hereditary disease, recent studies have identified genetic mutations associated with similar neuromuscular disorders, such as late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) and sporadic late-onset nemaline myopathy (SLONM).

Unraveling the Genetic Basis of Late-Onset MADD

In a study on diagnostic challenges in late-onset MADD, the authors explore the clinical, morphological, and genetic aspects of this disorder of fatty acid oxidation. By analyzing the genetic data of patients with late-onset MADD, the researchers identified specific mutations in the ETFDH gene that could be responsible for the disease. This discovery not only sheds light on the genetic basis of late-onset MADD but also highlights the potential application of genetic testing in the diagnosis and management of similar neuromuscular disorders, such as late-onset axial myopathy.

Investigating the Genetic Landscape of SLONM

Another study examining inflammatory features in SLONM suggests that this rare adult-onset non-hereditary disease may have a genetic component. The researchers found that patients with SLONM often presented with monoclonal gammopathy, a condition characterized by the abnormal production of a single type of antibody by the immune system. Although the exact relationship between SLONM and monoclonal gammopathy remains unclear, this finding underscores the potential role of genetic factors in the development of SLONM and, by extension, late-onset axial myopathy.

Genetic Testing as a Diagnostic and Prognostic Tool

Genetic testing can be a valuable diagnostic tool in the evaluation of patients with late-onset axial myopathy, especially when clinical and imaging findings are inconclusive. By identifying specific genetic mutations associated with related neuromuscular disorders, such as late-onset MADD and SLONM, genetic testing can potentially help confirm the diagnosis and guide treatment decisions. Furthermore, genetic testing may also provide prognostic information, enabling physicians to predict the disease course and tailor management strategies accordingly.

Conclusion

As our understanding of the genetic landscape of late-onset axial myopathy and related neuromuscular disorders continues to evolve, the role of genetic testing in the diagnosis and management of these conditions is becoming increasingly apparent. By integrating genetic testing into the diagnostic algorithm, clinicians can make more informed decisions about treatment options and improve the quality of life for patients with late-onset axial myopathy.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)