Rare Disorder Groups Ask If You are Affected

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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 CMDs 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 CMDs 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 CMDs 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!

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Rare Disorder Groups Ask If You are Affected