• Doenica Palacio

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

more information.


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: counselor@cmdir.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

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