Rare Disorder Groups Ask If You are Affected
Source Newsroom: Malignant Hyperthermia Association of the United States (MHAUS)
Newswise — If you are affected by Malignant Hyperthermia, Congenital Muscular Dystrophies or Congenital Myopathy Subtypes, the Malignant Hyperthermia Association of the United States and the Cure Congenital Muscle Disease organization are asking for your help to enable research and clinical trials by registering with the Congenital Muscle Disease International Registry (CMDIR).
You do not have to be diagnosed with a specific muscle disorder to register. We welcome everyone with congenital or later onset muscle weakness to register, and can provide information on institutions who perform genetic testing, the names of medical providers who specialize in the diagnosis and treatment of muscle disease, and community support groups to put you in touch with others affected by a muscle disorder.
When you register, you will receive the CMDIR newsletters, notice of available clinical trials that apply to your registered profile, and notice of available therapies that apply to your registered profile when they become available.
To register, click this link today and help the CMDIR continue working towards future treatments and a cure!
What is Malignant Hyperthermia
Malignant Hyperthermia (MH) is inherited genetic disorder found in an estimated 1 out of 2,000 people and triggered by certain anesthetics and/or the drug succinylcholine and most often experienced in individuals undergoing routine surgery but in rare cases MH can happen without anesthesia. The disorder is due to abnormally increased levels of cell calcium in the skeletal muscle. Symptoms include body temperature of up to 107 degrees, muscle rigidity, system-wide organ failure, and possible death.
There is mounting evidence that some patients will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
What are Congenital Muscular Dystrophies
The congenital muscular dystrophies represent a group of diseases of muscle. As technology and our understanding of these diseases progresses, the CMD’s are emerging from being a poorly understood subset of muscular dystrophy into a dizzying array of distinct diseases that share the onset of muscle weakness in infancy or childhood. The only epidemiological study of the CMD’s comes from a study in northern Italy that, which placed disease prevalence at 8 x 106. This suggests that CMD, though rare, as a group represents one of the more common neuromuscular disorders. The best way to understand the CMD’s is to follow a classification scheme proposed in a recent review article based on the location of the affected protein. For more information click this link to Cure CMD.
About the Malignant Hyperthermia Association of the United States (MHAUS)
MHAUS was founded families who lost their children to MH or could not find information about MH. In 1981 they found each other - and a doctor performing MH testing – and agreed “to make current information about MH available to all who need it!”
Since 1981 MHAUS has asked fostered the following: the World Health Organization (WHO) to add MH to its list of recognized diseases and disorders. In 1983 the first MHAUS healthcare professional and patient teaching conference. In 1992 the FDA ordered pharmaceutical companies that manufacture succinylcholine to change the package insert to indicate that the drug should not be used routinely in children. In 1995 the MH 24-hour Hotline was formalized and MHAUS merged with the North American MH Registry, which had been established in 1987. In 1997 the MHAUS website was formed along with the Neuroleptic Malignant Information Service of MHAUS. In 1998 the MH ID Tag program was created. In 2000 the MH Procedure Manual was created for ambulatory surgery centers, hospitals, and office based surgery suites. In 2001 the MH Patient Liaison Committee was formed. In 2003 a new mutation in ryanodine receptor gene was discovered and appears to be causal for MH. More at: www.mhaus.org.
March is Malignant Hyperthermia Awareness and Training Month! To celebrate:
The Geoffrey Keller Memorial Open Water Swim in Marshall, Illinois on Saturday, June 21, 2014 was announced by the Geoff Keller Chapter Group of MHAUS to remember the life of namesake Geoff Keller with his family and friends and to build awareness about Malignant Hyperthermia.
Nurses at University of Rochester Medical Center are co-hosting a MH Mini-Conference in Rochester, NY on Saturday, March 29, 2014 for healthcare professionals and patients in Western and Central New York.
MHAUS is asking for your help to post selfies to the MHAUS Facebook Page to celebrate March to be Malignant Hyperthermia Awareness and Training Month. Click this link for details: https://www.facebook.com/mhaus.malignant.hyperthermia.association.us
The mission of Malignant Hyperthermia Association of the United States is to promote optimum care and scientific understanding of MH and related disorders. MH episodes can happen at any time and MHAUS will always be ready to provide assistance when you need it. But the best way protect your family and patients is to be prepared before it’s too late. Get Involved with MHAUS today to find out what you can do to make a difference.
About Cure CMD (Congenital Muscular Dystrophies)
Cure CMD’s mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will achieve this mission by working globally together with dedicated parent, government and research advocates. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMD’s