Expert Reviewed By: Dr. Brandon Colby MD
Understanding Dejerine-Sottas Neuropathy
Dejerine-Sottas neuropathy, also known as autosomal dominant hereditary motor and sensory neuropathy, is a rare genetic disorder that affects the peripheral nerves. These nerves are responsible for transmitting sensory information and controlling muscle movement. The disorder is characterized by progressive muscle weakness, atrophy, and sensory loss, typically beginning in childhood or early adolescence. Early detection and diagnosis are crucial for managing the condition and improving the quality of life for those affected.
Diagnosing Dejerine-Sottas Neuropathy
Diagnosing Dejerine-Sottas neuropathy can be challenging due to the variability in symptoms and the rarity of the condition. A thorough clinical evaluation, including a detailed patient history, physical examination, and neurological tests, is essential for an accurate diagnosis. However, recent advances in genetic testing have made it possible to identify the specific genetic mutations responsible for Dejerine-Sottas neuropathy, providing a definitive diagnosis and helping to guide treatment and management strategies.
Genetic Mutations Linked to Dejerine-Sottas Neuropathy
Several genetic mutations have been identified as the cause of Dejerine-Sottas neuropathy. Some of these include:
- A gene mapped on chromosome 8qter: This mutation was identified in a Dejerine-Sottas neuropathy family, with affected members experiencing progressive weakness, atrophy, and sensory loss.
- Novel compound heterozygous nonsense PRX mutations: These mutations (p.R392X and p.R679X) in the PRX gene were identified as the cause of Dejerine-Sottas neuropathy in a Korean patient.
- Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C: A 1.35 Mb complex structural variation in the UBE3C gene creates a novel gene-intergenic fusion transcript, leading to distal hereditary motor neuropathy, which can be associated with Dejerine-Sottas neuropathy.
Using Genetic Testing for Dejerine-Sottas Neuropathy
Confirming a Diagnosis
Genetic testing can be used to confirm a diagnosis of Dejerine-Sottas neuropathy in individuals with suggestive clinical features. By identifying the specific genetic mutation responsible for the disorder, healthcare providers can provide a definitive diagnosis and offer appropriate treatment and management options.
Carrier Testing
For individuals with a family history of Dejerine-Sottas neuropathy, genetic testing can be used to determine if they carry the mutation responsible for the disorder. This information can be helpful for family planning and understanding the risk of passing the condition on to future generations.
Prenatal Testing
Genetic testing can also be used for prenatal diagnosis in families with a known history of Dejerine-Sottas neuropathy. By testing the fetus for the specific genetic mutation associated with the disorder, healthcare providers can provide valuable information to expectant parents about the potential health of their baby and help them make informed decisions about their pregnancy.
Guiding Treatment and Management
Identifying the specific genetic mutation responsible for Dejerine-Sottas neuropathy can help healthcare providers tailor treatment and management strategies for affected individuals. This personalized approach can lead to improved outcomes and a better quality of life for those living with the disorder.
Conclusion
Advances in genetic testing have greatly improved our understanding of Dejerine-Sottas neuropathy and its underlying genetic causes. By using genetic testing to confirm diagnoses, identify carriers, and guide treatment and management, healthcare providers can help improve the lives of those affected by this rare and debilitating disorder.
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)