Expert Reviewed By: Dr. Brandon Colby MD
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder that affects the nerve cells responsible for controlling voluntary muscle movement. The disease is characterized by the gradual degeneration and death of motor neurons, leading to muscle weakness, paralysis, and eventually, respiratory failure. ALS can be sporadic or familial, with the latter having a genetic basis. In this article, we will delve into the recessive nature of ALS, the importance of understanding and diagnosing the disease, and the role of genetic testing in managing this disorder.
Understanding Recessive ALS
Recessive ALS is a form of the disease caused by an autosomal recessive genetic variant, meaning that both copies of a gene in an individual must have the mutation for the individual to be affected. This type of ALS is relatively rare compared to the more common sporadic and dominant forms of the disease. However, understanding recessive ALS is crucial for providing accurate diagnoses, appropriate treatment, and genetic counseling for affected individuals and their families.
A Mutation in Sigma 1 Receptor Causes Juvenile ALS
A study published in Annals of Neurology describes a consanguineous family with juvenile ALS caused by an autosomal recessive genetic variant. The researchers identified a mutation in the sigma 1 receptor (SIGMAR1) gene, which is involved in several cellular processes, including calcium signaling and protein folding. This discovery highlights the importance of genetic testing in diagnosing recessive forms of ALS and provides insight into the molecular mechanisms underlying the disease.
Diagnosing Recessive ALS
Diagnosing ALS, particularly its recessive form, can be challenging due to the heterogeneity of the disease and the overlap of symptoms with other neurodegenerative disorders. Genetic testing plays a vital role in confirming the diagnosis and identifying the specific genetic variant responsible for the disease.
De Novo Pathogenic Variant in SETX Causes a Rapidly Progressive Neurodegenerative Disorder
Researchers in a study published in Acta Neuropathologica Communications identified two unrelated patients with the same de novo SETX variant, causing a severe early-onset neurodegenerative disorder. This finding underscores the importance of genetic testing in diagnosing recessive ALS and related disorders, as well as the need for further research to uncover additional genetic variants associated with these diseases.
Using Genetic Testing for Recessive ALS
Genetic testing is a valuable tool for diagnosing and managing recessive ALS. It can help confirm the diagnosis, identify the specific genetic variant responsible for the disease, and provide information on the prognosis and potential treatment options.
The Genetics of Amyotrophic Lateral Sclerosis: Current Insights
A review published in Degenerative Neurological and Neuromuscular Disease provides an overview of ALS genetics and the pathogenic mechanisms associated with identified genes. The authors emphasize that genetic testing is essential for understanding the disease's genetic basis, which can, in turn, inform treatment strategies and provide valuable information for genetic counseling.
From Hahnemann to the Physiology of the Complex Systems in Practice
A paper in the International Journal of High Dilution Research presents two clinical cases of patients with ALS and Wilson's disease, treated using homeopathic principles based on the Complex Systems Model of Carillo. The authors highlight the importance of considering the patient's genetic background and using genetic testing to inform treatment decisions, particularly in the context of personalized medicine.
In conclusion, understanding, diagnosing, and using genetic testing for recessive ALS is crucial for providing accurate diagnoses, appropriate treatment, and genetic counseling for affected individuals and their families. As research continues to uncover the genetic basis of ALS and related disorders, genetic testing will undoubtedly remain a vital tool in managing these devastating diseases.
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)