The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the coagulation cascade||-|
|Elevated serum creatine phosphokinase||-|
|Mixed respiratory and metabolic acidosis||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Learn more orphan products.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Malignant Hyperthermia (MH): New Insights and Connections
Friday, April 23, 2010 -
Saturday, April 24, 2010
Location: University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA
Description: The goal of this meeting was to allow clinicians and scientists to share new data, translate that information into effective strategies for patient diagnosis and management, and provide motivation for new research efforts.
Contact: Dr. Theresa Smith, NIAMS(301) email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
The following diseases are related to Malignant hyperthermia. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Is the health of a person with malignant hyperthermia only jeopardized when anesthesia is used or are there daily complications that a person with this condition has to endure if they don't receive some sort of treatment? See answer
My brother has malignant hyperthermia. What are the chances his parents, siblings, children, nieces, and nephews will have it? See answer
Can malignant hyperthermia be transferred by blood donations? And at what age up to can you still donate blood? See answer