CMDIR Newsletter December 2016
Updated: Feb 18
Please Update Your Profile
Please log into your CMDIR profile to update any changes to your contact
information and complete the Annual Update Survey, the third survey listed
under the Profile tab of your profile. We need your help to have the most
complete information available to make our registry strong! Click here for
Registry numbers grow
Check out the latest numbers from the registry. Every registrant counts! Please
encourage others from your disease community to register!
It's flu season
Flu activity is on the rise. People with muscle disease are at risk for complications from the flu.
The good news is that so far this year the vaccine is a good match for the current circulating
viruses. There is still time for you and your loved ones to get vaccinated.
Advocate for the best care possible
There are a few guides available to help you to get the best medical care.
Click here for the Management of Congenital Muscular Dystrophy (CMD): A family guide.
Click here for the Care of Congenital Myopathy: A Guide for families.
Click here to see the Amazon Kindle Book.
Getting a genetic diagnosis one registrant at a time
Jackie finally has a genetic diagnosis for the cause of her weak limbs and turned-in ankles. After a lifetime of searching, the partnership between the CMDIR and Claritas Genomics helped her to get an answer in 3 weeks. Read more here.
Our registry is only as strong as our data. Please make sure to submit your medical
records, especially your genetic test report(s).
Scan and attach to an email addressed to: firstname.lastname@example.org
Fax to 1-310-684-2023
Send via regular mail to: 3217 East Carson Street Lakewood, CA 90712
Low blood sugar in Congenital Muscle Disease
Leslie Hotchkiss, Dr. Payam Mohassel, and colleagues at the National Institutes of
Health recently conducted a study to better understand the causes of episodes of
hypoglycemia, or low blood sugar, in children with congenital muscle disease
With a publication forthcoming, the team had this to share with CMD families
concerned about hypoglycemia:
Hypoglycemia is quite rare in children with CMD but appears to be increased in
children with CMD compared to the general population. While the majority of
children with CMD do not develop hypoglycemia, severe hypoglycemia is serious
and can become a recurrent problem in some children. Early recognition and
treatment can likely prevent most potential harm. Symptoms of severe hypoglycemia
include reduced level of alertness, clamminess, restlessness and severe irritability,
unconsciousness, and seizures among others.
Episodes of hypoglycemia in children with CMD tend to occur after a prolonged
fasting period (for example before a procedure) or during illness (for example when
vomiting or not able to eat). To detect hypoglycemia during illness (for example an
illness requiring a visit to the emergency room or urgent care) a finger stick glucose
test should be performed by health care professionals. If hypoglycemia is present,
families should be educated regarding symptoms and given abortive interventions in
the future. Also, when children with CMD are fasting for a procedure or surgery, they
are at higher risk of developing hypoglycemia and measures should be taken to
minimize the time they do not eat and monitor their blood sugar before the
Titin Family Call
There will be an online gathering for people with Titin on Saturday, February 27,
2016. You can give input to the Titin patient representative who will be attending a
research meeting in April. To register, please contact Sarah Foye
LAMA2 Scientific Update Webinar
Please join us for a live update from Dr. Anne Rutkowski and Dr. Ronni Cohn who
will discuss progress made in LAMA2/MDC1A research and the LAMA2 Scientific
Meeting held in Toronto (Feb 29-Mar 1). The hosts will share information about
current therapeutic targets, research that is currently being funded and priorities for
the next year. There will be a brief presentation and an extended Q&A session. The
webinar will be recorded and posted to Cure CMD's YouTube Channel for those
unable to attend live.
When: Saturday, April 2, 2016 10:00 AM PDT/12:00 PM CDT/1:00 PM EDT
Please join the meeting from your computer, tablet or smartphone (a microphone
and headset are recommended):
Access Code: 972-330-853
You can also dial in using your phone:
United States : +1 (224) 501-3217