Decoding Myotonia Levior: Genetic Testing for a Better Understanding
Because it overlaps with myotonia congenita and paramyotonia congenita, CLCN1 findings are what separate myotonia levior from Thomsen and Becker disease.
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
Neonatal Death: What Genetic Testing Can and Cannot Show
Most full-term stillbirths and early neonatal deaths in one Danish study had no known cause; exome sequencing found a BRAT1 variant behind one lethal seizure syndrome.
Unlocking the Mysteries of Neonatal Encephalopathy: The Power of Genetic Testing
Seizures, feeding difficulty and abnormal muscle tone can follow disturbed brain function in newborns; a Chinese cohort found pathogenic variants in 11.7% of cases.
Decoding Nephrotic Range Proteinuria: Genetic Testing for Clarity and Treatment
Nephrotic range proteinuria means abnormally high urine protein from damaged glomeruli, a key sign of nephrotic syndrome; PLCE1 mutations are one genetic cause.
Normal Pregnancy: Genetic Testing and Pregnancy Loss
Chromosome 20 mosaicism, whole exome sequencing for pregnancy loss and homocysteine levels in preeclampsia are the studies summarized for pregnancy and recurrent loss.
Shedding Light on Optic Nerve Hypoplasia: Understanding, Diagnosing, and Using Genetic Testing
Vision impairment from an underdeveloped optic nerve makes ONH one of the leading causes of blindness in the United States; imaging and DNA testing help confirm it.
Decoding the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Ovarian Dysgenesis
Absent menstruation, infertility and early menopause can follow disordered ovarian development; BMP15 variants and next-generation sequencing panels are discussed.
Unraveling the Enigma of Pain Insensitivity: A Journey Through Genetic Testing
Discover the importance of genetic testing in diagnosing congenital insensitivity to pain (CIPA), its underlying mutations, and how early intervention can improve lives.