
Motor Tics: Genetic Research, Diagnosis and Tourette's
Sudden involuntary movements such as eye blinking or head jerking may be simple or complex; secondary causes, Tourette's syndrome and the limits of testing are weighed.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.

Sudden involuntary movements such as eye blinking or head jerking may be simple or complex; secondary causes, Tourette's syndrome and the limits of testing are weighed.

Umbrella term for conditions affecting several organ systems, illustrated with GNB5 bradycardia, Primary Familial Brain Calcification and Tuberous Sclerosis Complex.

Prolonged opening of acetylcholine receptor channels causes the weakness and fatigue of SCCMS; sequencing has identified CHRND, CHRNE and CHRNA1 variants in patients.

Continuous fine muscle twitching can be benign or point to a nerve disorder; a KCNQ2 variant was reported in familial myokymia with peripheral nerve hyperexcitability.

White blood cells called eosinophils invade muscle, causing pain and swelling, and CAPN3 testing can reveal limb girdle muscular dystrophy type 2A instead.

Stiffness, pain and weakness follow when muscles cannot relax after contracting; ion channel genes including SCN4A, CLCN1 and CHRNE are described here.

A large genotype-driven study uncovered 12 new genes behind developmental disorders, and whole genome sequencing found a likely cause in 2 of 16 infant deaths.

Type 1 tumors are built from small basophilic cells of low nuclear grade, unlike type 2; CT-based radiomics and DNA analysis both help tell the two subtypes apart.