Congenital Myasthenic Syndrome 3B: Unraveling the Genetic Threads
Weakness that worsens with exertion may begin in infancy or later in childhood. RAPSN testing gives CMS 3B a genetic label and explains some of its clinical variability.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He 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 from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. 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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Charting the Course of Congenital Myasthenic Syndrome 3C: The Promise of Genetic Testing
Defective assembly of acetylcholine receptors underlies CMS 3C. Testing for RAPSN mutations confirms the diagnosis, guides therapy and informs carrier assessment.
Cracking the Code: Understanding Congenital Myasthenic Syndrome 4B Through Genetic Testing
When rapsyn cannot cluster acetylcholine receptors, nerve-to-muscle signals falter. CMS 4B brings ptosis, facial weakness and swallowing trouble that testing can confirm.
Cracking the Code: The Role of Genetic Testing in Understanding Congenital Myasthenic Syndrome 9
SLC5A7 moves choline into nerve cells so acetylcholine can be made. CMS9 disrupts that step; testing confirms the mutation behind weakness, ptosis and breathing trouble.
Congenital Stationary Night Blindness 1G: Shedding Light on Genetic Testing
Sixty-five variants have been tied to this retinal disorder; high myopia and strabismus prompt closer eye exams, while variant interpretation in CSNB1G remains difficult.
Understanding DeSanto-Shinawi Syndrome Due to WAC Point Mutation
Whole-exome sequencing and targeted panels can pinpoint the WAC point mutation behind the syndrome, separating it from other developmental disorders that look similar.
DEE29: The PACS2 p.Glu209Lys Variant and Diagnosis
Frequent seizures, cognitive impairment and developmental delay make up DEE29, which a study of 30 affected individuals tied to the PACS2 p.Glu209Lys variant.
Decoding Developmental and Epileptic Encephalopathy, 30: The Role of Genetic Testing
Infants with DEE30 may plateau or regress in motor and cognitive skills alongside refractory seizures; the PACS2 p.Glu209Lys variant guides drug choice and testing.