Unlocking the Mystery of Autosomal Recessive Dejerine-Sottas Syndrome

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Dejerine-Sottas Syndrome (DSS) is a rare genetic disorder that affects the peripheral nervous system, causing muscle weakness, sensory loss, and other debilitating symptoms. While there are different forms of DSS, this article focuses on the autosomal recessive form, which is caused by mutations in both copies of a specific gene. Understanding, diagnosing, and using genetic testing for this disease is crucial for proper management and care. This article aims to provide a comprehensive overview of autosomal recessive Dejerine-Sottas Syndrome, with a focus on the importance of genetic testing.

Understanding Autosomal Recessive Dejerine-Sottas Syndrome

Dejerine-Sottas Syndrome is a hereditary peripheral neuropathy characterized by progressive muscle weakness, sensory loss, and decreased nerve conduction velocities. It typically presents in infancy or early childhood, and its severity can vary greatly between individuals. Some patients may experience severe disability and require the use of a wheelchair, while others may have milder symptoms and maintain their mobility throughout adulthood (Dejerine–Sottas syndrome grown to maturity).

Autosomal recessive Dejerine-Sottas Syndrome is a distinct genetic entity that occurs when both parents carry a mutated copy of a specific gene, and their child inherits both mutated copies. Research has shown that this form of DSS is not always linked to mutations in the PMP22, MPZ, and Cx32 genes, which are typically associated with other forms of the disorder (Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome). Instead, autosomal recessive DSS has been associated with mutations in other genes, such as EGR2 (Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype).

Diagnosing Autosomal Recessive Dejerine-Sottas Syndrome

Diagnosing Dejerine-Sottas Syndrome can be challenging due to its rarity and the wide range of symptoms it can present. A thorough clinical examination, including a detailed family history, is essential for identifying potential cases of DSS. In addition, nerve conduction studies, electromyography, and nerve biopsy may be performed to assess the extent of nerve damage and confirm the diagnosis.

However, definitive diagnosis of autosomal recessive DSS requires genetic testing to identify the specific gene mutations responsible for the disorder. This can be particularly helpful for distinguishing between different forms of DSS and guiding appropriate treatment and management strategies.

Uses of Genetic Testing for Autosomal Recessive Dejerine-Sottas Syndrome

Genetic testing plays a crucial role in the diagnosis and management of autosomal recessive Dejerine-Sottas Syndrome. Some of the key uses of genetic testing for this disorder include:

1. Confirming the diagnosis: Identifying the specific gene mutations responsible for autosomal recessive DSS can provide definitive confirmation of the diagnosis, allowing for appropriate treatment and management strategies to be implemented.
2. Distinguishing between different forms of DSS: Genetic testing can help differentiate autosomal recessive DSS from other forms of the disorder, such as those caused by mutations in the PMP22, MPZ, and Cx32 genes (Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene).
3. Carrier testing and family planning: For couples with a family history of DSS, genetic testing can determine if they are carriers of the mutated gene responsible for the disorder. This information can be invaluable for family planning and assessing the risk of passing the disorder onto future children.
4. Prenatal testing: In families with a known history of autosomal recessive DSS, prenatal genetic testing can be performed to determine if the fetus has inherited the mutated genes. This information can help guide decisions regarding pregnancy management and prepare families for the potential challenges of raising a child with DSS.

In conclusion, understanding, diagnosing, and using genetic testing for autosomal recessive Dejerine-Sottas Syndrome is essential for providing the best possible care for individuals affected by this rare and complex disorder. Genetic testing not only aids in confirming the diagnosis but also plays a vital role in differentiating between different forms of DSS, carrier testing, and prenatal testing. By raising awareness and promoting the use of genetic testing, we can improve the lives of those living with autosomal recessive Dejerine-Sottas Syndrome.

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)