Neuronopathy, Distal Hereditary Motor, Type 5A: Unraveling the Genetic Threads
Trouble writing or buttoning a shirt can be the first sign; BSCL2 mutations confirm type 5A, which is inherited in an autosomal dominant pattern.
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
Oculomaxillofacial Dysostosis: Unraveling the Genetic Threads
Anomalies of the eyes, jaw and face define oculomaxillofacial dysostosis, which can include cleft lip or palate, facial asymmetry and intellectual disabilities.
Genetic Genesis: Understanding Opsoclonus-Myoclonus Syndrome through Genetic Testing
Rapid involuntary eye movements, muscle jerks and ataxia define OMS, often linked to neuroblastoma; a KCTD7 mutation has been reported in an OMS-like syndrome.
Orofaciodigital Syndrome: Genetic Testing's Role in Understanding and Managing the Disorder
Defects in cilia, the hair-like structures on cell surfaces, underlie this ciliopathy; TMEM107 mutations link to facial, oral and digital malformations in OFD.
Paroxysmal Dyskinesia: Unraveling the Genetic Threads
Sudden involuntary movements, often set off by movement or stress, mark this disorder; a CHRNA4 variant links it to genetic epilepsy with febrile seizures plus.
Pinpointing Paroxysmal Dystonia: The Role of Genetic Testing in Diagnosis and Management
Episodes of involuntary twisting or abnormal posture last minutes to hours, and genetic testing helps distinguish this rare disorder from similar movement disorders.
Periodic Fever Syndrome: Unraveling the Genetic Threads of a Mysterious Condition
Recurrent fevers with stomatitis, pharyngitis and adenitis mark PFAPA in children; diagnosis rests on clinical criteria and excluding other causes.
Pinpointing Periodic Paralysis: The Role of Genetic Testing in Diagnosis and Management
Attacks of muscle weakness can follow stress, diet or temperature change; CACNA1S and SCN4A variants underlie the hypokalemic form, which is autosomal dominant.