Myotonic Dystrophy – A preventable disease – Why HealthCare Reform is Needed

Christopher M is a happy contented 22-year-old man. He functions at a 2-year-old level, requires 24/7 supervision, has multiple medical problems, Brain, lungs, GI tract, Heart, Muscles. His medical costs to date are over $2 million dollars and education and other support over $1 million. Christopher M has congenital  myotonic dystrophy a neuromuscular disease with no cure, no treatment except symptom relief.  This congenital form is caused by the conception and birth or a child to a mother who has the adult form of the disease. Whats has even more impact is that each generation with myotonic dystrophy the children get sicker and have more and more severe symptoms.

Both the these diseases DM1 and the congenital form of the disease (CMD) can be prevented by using Pre-Implant Genetics (PGD) along with in vitro fertilization  (IVF) for those who wish to have a health child. Myotonic Dystrophy is preventable in most cases, except where religious belief would interfere with IVF.


Continue reading

Anesthesia in Congenital Myotonic Dystrophy Case Report

Total intravenous anesthesia in a 10-month-old patient with congenital myotonic dystrophy undergoing endoscopic third ventriculostomy -A case report-


Myotonic dystrophy is a rare genetic disorder characterized by muscle atrophy and weakness. Surgical treatment of this condition poses various problems for the anesthesiologist. We describe the anesthetic management of a 10-month-old infant with congenital myotonic dystrophy, who was scheduled for endoscopic third ventriculostomy under general anesthesia. Anesthesia was induced with thiopental sodium, fentanyl, and vecuronium, and thereafter maintained via continuous infusion of propofol and remifentanil. The train-of-four ratio was monitored throughout the operation, and muscle relaxation was reversed with pyridostigmine and glycopyrrolate at the end of the procedure. We show that total intravenous anesthesia using propofol and remifentanil is a satisfactory anesthetic technique in very young patients with congenital myotonic dystrophy.

Continue reading