Muscular Dystrophy-Dystroglycanopathy Type A5 Diagnosis
Clinical signs of type A5 overlap with other neuromuscular disorders, so molecular analysis is used to confirm the diagnosis and support genetic counseling.
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
Mapping the Mystery: Understanding Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A6 Through Genetic Testing
Alpha-dystroglycan glycosylation defects in type A6 affect muscle, brain and eyes, and testing can distinguish it from other disorders with overlapping features.
Dystroglycanopathy Type B1: DAG1 Gene and Symptoms
A DAG1 variant disrupts proteins needed for muscle and brain development; in type B1, findings are linked to motor impairment, epilepsy and intellectual disability.
Mapping the Mysteries of Muscular Dystrophy-Dystroglycanopathy (Congenital with Intellectual Disability), Type B3
Changes affecting the dystroglycan complex cause the progressive muscle weakness and intellectual disability of type B3; carrier testing and PGD options are covered.
Mastering Muscular Dystrophy-Dystroglycanopathy: Genetic Testing's Role in Type B4
Muscle weakness from birth or early childhood without intellectual disability marks type B4, and confirming the gene mutation separates it from similar dystrophies.
Nephronophthisis-like Nephropathy 1: Navigating Genetic Testing for Insightful Diagnosis
Scarring of the nephrons leads to chronic kidney disease, and a reported XPNPEP3 mutation came with heart failure, widening the picture of what this disorder involves.
Neuroblastoma, Susceptibility to, 3: Navigating the Genetic Landscape
Variants in base excision repair pathway genes are linked to this susceptibility type, and the page weighs risk assessment, treatment planning and testing limits.
Neuronopathy, Distal Hereditary Motor, Type 2C: Navigating Genetic Testing for Early Detection and Management
Cramps, wasting and reduced reflexes in the limbs start in childhood or early adulthood; a TRPV4 finding separates type 2C from similar neuromuscular conditions.