Get ready to take in a lot of valuable information! In this episode we’re honored to be joined by A. Reghan Foley, MD, Staff Clinician 2 at the National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section. Dr. Foley goes in depth on each subtype, what symptoms to look for, how they are typically diagnosed, natural history and key points of health that will need monitoring, and potential clinical trials.

Quick find for each of the subtypes:

SEPN1 - 06:54

LMNA - 20:19

LAMA 2 - 32:05

Collagen VI - 46:30

a-Dystroglycanopathy - 59:42

Dr. Foley is a child neurologist who trained in neuromuscular diseases with Dr. Carsten Bönnemann at the Children’s Hospital of Philadelphia and with Professor Francesco Muntoni at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital in London. She completed an MD-Research degree focused on the collagen VI-related dystrophies at University College London and then worked at the Children’s University Hospital, Dublin to help expand neuromuscular diagnostic efforts there. Dr. Foley presently works with Dr. Bönnemann at NIH, where she is delighted to be able to be help affected individuals with neuromuscular conditions arrive at genetic diagnoses and journey towards clinical trials.