---

Lead investigator

Collaborators & Co-Investigators

• Dominic Jauvin, MSc
• Jack Puymirat MD, PhD

Research Sites & Affiliations

• Université Laval, Quebec City, Quebec

Budget: $59,987.20

Disorders: Myotonic Dystrophy

Research Areas: Understand Diagnosis and Disorder Progression

Abstract: 

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy found in adults and currently there is no cure for this disease. DM1 is a multisystemic disease that affects several tissues including skeletal muscles, heart and brain. There are two major clinical manifestations of DM1: the classical adult form and congenital/childhood form. While the causes for skeletal muscle abnormalities in adulthood DM1 are established, the mechanisms responsible for the brain aspects of the congenital/childhood forms of DM1 remain largely unknown. The congenital form of DM1 is maternally transmitted and is characterized by reduced fetal movements, severe hypotonia and weakness at birth, often-respiratory insufficiency, feeding difficulties and talipes. Recent advances in stem cell technology now, will allow establishing stem cell lines from patients with adult and CDM1/childhood forms of the disease with the possibility to guide the differentiation of these stem cells into brain cells. Using the latest technology in disease modeling using 2 and 3D neuronal cultures), will speed up new discoveries on how we can reverse brain abnormalities in these patients.

Impact: Understanding the DM1 disease mechanism will help neurologists and other healthcare providers to improve the current diagnosis, monitor the disease progression and eventually improve treatment.

Impact: