Decoding Sensory Axonal Neuropathy: Genetic Testing Unlocks the Mystery

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Sensory axonal neuropathy is a complex and rare neurological disorder affecting the peripheral nerves. It can cause a wide range of symptoms, including sensory loss, muscle weakness, and autonomic dysfunction. Understanding, diagnosing, and using genetic testing for this disease can help patients and their families navigate the challenges associated with this condition. In this article, we will explore the latest research on sensory axonal neuropathy, highlighting the importance of genetic testing in identifying the underlying causes and guiding treatment strategies.

Understanding Sensory Axonal Neuropathy

Sensory axonal neuropathy is a type of peripheral neuropathy, which refers to damage to the peripheral nerves that transmit sensory, motor, and autonomic signals between the central nervous system and the rest of the body. In sensory axonal neuropathy, the nerve fibers responsible for transmitting sensory information are primarily affected. This can lead to a range of symptoms, including numbness, tingling, pain, and loss of sensation in the affected areas.

There are several known genetic mutations that can cause sensory axonal neuropathy, including those in the dystonin (DST), PRNP, and LRSAM1 genes. These mutations can lead to the development of various forms of the disease, such as axonal Charcot-Marie-Tooth disease, chronic relapsing axonal neuropathy, and neuropathy with autonomic failure.

Diagnosing Sensory Axonal Neuropathy

Diagnosing sensory axonal neuropathy can be challenging due to its rarity and the diversity of its symptoms. A thorough clinical evaluation, including a detailed medical history and physical examination, is essential for identifying the signs and symptoms of the disease. In addition, several tests may be performed to confirm the diagnosis, such as nerve conduction studies, electromyography, and nerve biopsy.

However, genetic testing has emerged as a crucial tool in diagnosing sensory axonal neuropathy. By identifying the specific genetic mutations responsible for the disease, doctors can provide a more accurate diagnosis and tailor treatment plans to the individual needs of the patient.

The Role of Genetic Testing in Sensory Axonal Neuropathy

Genetic testing plays a vital role in understanding, diagnosing, and managing sensory axonal neuropathy. It can help identify the underlying genetic mutations responsible for the disease, guide treatment strategies, and provide valuable information for family planning and counseling.

Identifying Genetic Mutations

Several recent studies have highlighted the importance of genetic testing in identifying the genetic mutations responsible for sensory axonal neuropathy. For example, a study published in Neurology: Genetics identified compound heterozygous mutations in the DST gene as the cause of axonal Charcot-Marie-Tooth disease, emphasizing the essential role of BPAG1 in axonal health.

Another study published in the Journal of Neurology, Neurosurgery, and Psychiatry reported a novel Y163X PRNP truncation mutation causing a distinct phenotype with chronic diarrhea, autonomic failure, and axonal sensory peripheral neuropathy. Additionally, a study in BMC Neurology identified a novel mutation in LRSAM1 causing dominant axonal Charcot-Marie-Tooth disease, suggesting a role for damage of cell bodies in the anterior horn in LRSAM1-associated neuropathies.

Guiding Treatment Strategies

Genetic testing can help guide treatment strategies for sensory axonal neuropathy by identifying the specific genetic mutations responsible for the disease. This information can be used to develop personalized treatment plans that target the underlying cause of the disease and address the specific needs of the patient. Treatment options may include medications to manage symptoms, physical and occupational therapy, and lifestyle modifications to improve overall quality of life.

Family Planning and Counseling

For individuals with a family history of sensory axonal neuropathy, genetic testing can provide valuable information for family planning and counseling. By identifying the genetic mutations responsible for the disease, couples can make informed decisions about their reproductive options and seek appropriate genetic counseling to better understand the risks and implications of passing on the condition to their children.

In conclusion, genetic testing plays a crucial role in understanding, diagnosing, and managing sensory axonal neuropathy. By identifying the specific genetic mutations responsible for the disease, doctors can provide a more accurate diagnosis, tailor treatment plans to the individual needs of the patient, and offer valuable information for family planning and counseling.

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)