MHAUS - Malignant Hyperthermia Association of the United States
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Cause Bulletin
Malignant Hyperthermia susceptible families consider recording your health history with the MH Registry
Malignant Hyperthermia susceptible families consider recording your health history with the MH Registry for research http://bit.ly/cVemXx
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http://www.anesthesia-analgesia.org/c...
I am a 26 y/o male who recently was diagnosed with exertional rhabdomyolisis. After seeing many physicians who were clueless about my medical condition I was blessed enough to get referred to the Uniformed Services University of Health Sciences (USUHS) in Bethesda, MD. They have found and are currently still researching the relationship between exertional heat illnes, exertional rhabdomyolisis, and malignant hyperthermia. Many of the awake symptoms that I have read about here on the website are closely related to my exertional rhabdomyolisis symptoms. Muscle rigidity, increased temps, muscle cramps, soreness 48-72 hours following workouts, etc... I was later tested at their human performance lab and I underwent a Caffeine Halothane Contracture Test (CHCT) muscle biopsy at WRAMC (one of four facilities that test) and I tested positive for MH susceptibility. Since I have registered with MHAUS.org and live the life like many of you with some exceptions. I have added a link so please read the info and spread the word. God bless you all.
http://www.anesthesia-analgesia.org/c...
Need your help today to Send an automatic letter to your congressperson to make March Malignant Hyperthermia Awareness & Training Month http://bit.ly/4pBHmf
Michael, since a large number of my family members have been diagnosed with MH including my father, how do my sister, our children and myself go about getting tested for this?
I just want to say that I think this is amazing! I am an 18 year old who doesn't have a very nice health history. My third knee surgery is when I found out I had MH. As usualy, I had little worries going into surgery; for I was quite familiar with the OR. But when I had awaken, something was wrong. There were many people standing around, and I felt very weird. My body was covered in ice that they took from the Cafeteria, my clothes were taken off, and they flushed gallons of water into my body, through a catheder, so my organs wouldn't melt. As per norm in an MH pacient, my body temperature, hear rate and blood pressure sky rocketed. So once again, this is amazing. It makes me feel better knowing there are people out there who have been through the same thing =]
Any type of information about Awake Symptoms that you find i would appericate! like i said i have always been told that MH only affects you when under aneshtesia! Now, i believe im coming to an conculsion why i been sick. i had tons of test taken my doctor can't find anything wrong says it's in my head. The way i sweat is ridiclious, i really don't have to do anything to sweat.just sitting down i sweat at times.The stiffness in my legs(calfs)&aches, Passing out, having a heatstoke,muslce twitches,many more. Basically im trying to be my own doctor now, since i know it's not in my head and something is wrong im not sure if i should be on Dantrolene sodium pills? ? now from what i have expirenced so far from attacks is after eating certain foods, and being around cleaning chemicals,now this may seem a bit strange but i believe i had an attack from pickles one time and the next was bacon, now i have thought about this and it must be a certain type of salt(sodium) in take, not sure which sodium? Sodium phosphates: emulsifiers, stabilizers,Sodium propionate: preservative, mold inhibitor,Sodium citrate: controls acidity, stability,Sodium-It regulates muscle contractions and the balance of fluids, and is found in blood, saliva, tears, sweat, and lymph fluids. It is even a part of amniotic fluid....Now at times you hear "What causes it, cures it" Could this possibly be that one of these types of sodium could play an opposite role with some with MHPs? May sound weird but i thought i give you my thoughts and expirences, what do you think? could this be possible ? Could certain sodium intake affect MH differently? I'd like to hear what you think?? thank you very much for your time!!!!
I was Diagnosed with MH in 1986 when i was five. I had my tonsils taken out,from what i have been told my body temperature broke the machine at 114, i was in a huge ice bucket and was given dantolene. I was very lucky that my Doctors Dr.Kim &Dr.Parkiah both heard about MH before my surgery. I was their first patient and i owe them my life.Still today it seems many Doctors have no clue about MH it's scary. I have always been told that MH only will have affect undergoing anesthetic. I have read under MHAUS.org that you can have Awake Symptoms correct? Is there types of salt in takes that can trigger MH? or foods? or cleaning products? or when your working out? Can you have an awake attack? The older that i get, it seems like im having more Awake symptoms. All my life ive had excessive sweating, my blood pressure at times is evelated, Now in the past couple years i have notice my symptoms getting worse. I have looked at the MHS Awake Symptoms Questionnaire and can relate to all 14 symptoms. Over the past year ive had 2 heatstokes as i was working in a kitchen.Just last night i believe i had a Awake MH attack, I was sweating puddles ,i had tingleness in my legs,my head felt like it was going to blow and my vision was lacking and my breathing was very quick and heavy guess to shorten this up, felt like i was poisoned. Afterwards i almost felt like i had no legs, the muscle in the back of my legs were painful and still today i have been very sore. Is this MH attack? I have no doctor in this area who knows much about MH, if you could be so kind to point my in the right direction to receive my answers? i would be very happy to finally know what's going on with me. Im located in the NewYork,Buffalo area.Thank so much for your time!
Carolyn,
I am emailing you links to the http://www.mhaus.org site to help you further prepare your presentation.
I am a Labor and Delivery Clinical Program Manager and we are updating MH information for all our RN's next month. The website has been very helpful. I am learning so much I didn't know and our patients will be safer because of the associations efforts. Glad to spread the word and education.
Check out Malignant Hyperthermia “Let's Save a Life” mini-conference for patients and medical professionals happening in September in Oklahoma City OK and Latham NY at: http://tinyurl.com/l6rfer
Every year at the American Society of Anesthesiologists meeting MHAUS offers a media award for coverage of some aspect of MH. Last year Patty Pensa won the award for her in depth coverage of the death of Stephanie Kuleba. The American Society of Anesthesiologists meeting takes place this year in October in New Orleans.
If you have seen an article, a report on TV or other media dedicated to educating the public on MH or covering some aspect of the disorder, please let us know. You may write to me or Michael Wesolowski. Please indicate when and where you saw the article, TV show or heard a report on the radio.
Thanks.
I was wondering, if I have been diagnosed with MH, how likely is it that I would have a child that also had this disease? I know it's autosomal dominante but I just wanted to be sure.
Is hospitalization of an MHS for oral surgery warranted?
A: Minor oral surgery performed on an outpatient basis under local anesthesia, has been shown to be safe for the MHS patients. General anesthesia using intravenous medications and nitrous oxide only is also safe. However, any facility that performs surgery or anesthesia using MH trigger agents should be prepared to monitor the patient and treat an MH crisis, including having an adequate supply of dantrolene.
http://patients.mhaus.org/index.cfm/f...
MH susceptibility in Horses.
Althought this article starts with a discussion of another metabolic diisorder in horses.
There is important information on MH as well.
MH is not confined to humans and pigs. A syndrome that effects muscle performance is found in certain horse breeds as well
AAEP 2008: Genetic Diagnosis of Polysaccharide Storage Myopathy
by: Nancy S. Loving, DVM
March 13 2009 Article # 13776
Polysaccharide storage myopathy (PSSM) is a metabolic muscle problem found in at least 20 breeds, including Quarter Horses, Paints, Appaloosas, and drafts. An affected horse suffers bouts of exertional rhabdomyolysis (tying-up), muscle tremors, and/or gait abnormalities. At the 2008 American Association of Equine Practitioners convention, held Dec. 6-10 in San Diego, Calif., Molly E. McCue, DVM, MS PhD, Dipl. ACVIM, an assistant professor in the Department of Veterinary Population Medicine at the University of Minnesota, presented information about genetic testing for one PSSM type.
Researchers at the university discovered a gene mutation that causes unregulated glycogen formation in the muscles of horses with PSSM. This mutation is a gene called GYS1 on chromosome 10, which encodes the skeletal muscle glycogen synthase enzyme responsible for glycogen formation. Because this enzyme is constantly active in affected horses, they accumulate excess glycogen in the cells.
Did this mutation derive from a single horse? McCue explained that the "signature" of this mutation is like a bar code and can be traced back in time. It is believed to have arisen from a single horse about 144-178 horse generations ago, i.e. about 1,200-1,500 years ago. This corresponds to the "Great Horses" of war--described by medieval writers--that founded modern draft breeds.
While the phenotype (physical attributes) of affected horses varies widely, the extent of the muscle metabolic problem ranges from unrecognized subclinical disease to overt exertional rhabdomyolysis to recumbency that necessitates euthanasia.
McCue reported that approximately 8% of Quarter Horses have this GYS1 mutation. Re-evaluation of horses tested and found to have PSSM (diagnosed by muscle biopsy) indicated that about 75% of PSSM Quarter Horses and 85% of PSSM draft horses had the GYS1 mutation; a small percentage of Quarter Horses have another form of PSSM not due to the GYS1 mutation.
Also, 18 of 35 breeds were negative for the mutation, and there was a low prevalence of the GYS1 mutation in many Warmbloods diagnosed with PSSM by muscle biopsy. Therefore, many PSSM-affected Warmbloods might have another genetic mutation that causes PSSM.
The investigators found that 100% of Arabians, Thoroughbreds, and Standardbreds were affected by something other than the GYS1 mutation that causes tying-up and excessive glycogen storage.
PSSM is categorized into two different types: Type-1 PSSM defines horses with a GYS1 mutation--mostly seen in Quarter Horse, Paint, and Appaloosa purebreds or crosses, draft breeds, Morgans, and Tennessee Walking Horses. Type 2 PSSM is found in a variety of other breeds, and its cause is not yet known.
McCue also described a family of severely affected PSSM horses that do not respond well to treatment and might suffer acute death following an episode of tying-up. All but one of 49 horses in this family had the GYS1 mutation; however 46% of these horses also had another mutation (RYR1) causing malignant hyperthermia. This is a life-threatening condition that can be triggered by anesthesia, among other things; in horses with this gene mutation, excess calcium is released, causing clinical signs that include muscle rigidity, elevated body temperature, profuse sweating, tachycardia (excessively fast heartbeat), brown urine, hypercapnia (excess carbon dioxide in the blood), creatine kinase (a muscle enzyme) increase, electrolyte disorders, tachypnea (rapid, shallow breathing), hypertension, acidosis (a drop in blood pH), and high mortality. In general, this RYR1 mutation occurs only in about 0.5% of all Quarter Horses.
McCue indicated that most PSSM horses respond well to a high-fat and low-starch diet. However, it appears that while horses with both the GYS1 and malignant hyperthermia mutations respond to this diet, they respond less favorably. On a grain-inclusive diet, 73% of horses with both mutations were unable to reach a treadmill exercise target of a specified time and had to be stopped earlier than horses with GYS1-related PSSM alone. Yet, when fed a high-fat and low-starch diet, only 10% of the double-mutation horses were unable to reach target exercise. It was concluded that both diet and genotype affect clinical expression of rhabdomyolysis.
A genetic test for type-1 PSSM (GYS1) is now available. You can test the blood or hair root of breeds with a high incidence of type-1 PSSM for the GYS1 mutation. For Paints or Quarter Horses with recurring or severe PSSM, testing for malignant hyperthermia mutation as well as GYS1 mutation is recommended. If genetic tests are negative, then a diagnosis of type-2 PSSM or other potential muscle disorders can be pursued through muscle biopsy.
HEre is another recent article on the subject:
AUTHORS:
Aleman, M;Nieto, JE;Magdesian, KG
*Malignant* *Hyperthermia* Associated with Ryanodine Receptor 1 (C7360G) Mutation in Quarter Horses
SOURCE: JOURNAL OF VETERINARY INTERNAL MEDICINE, 23: (2) 329-334 MAR-APR 2009
ABSTRACT:
Anesthetic-induced *malignant* *hyperthermia* (MH) has been documented in Quarter Horses with a single point mutation in the ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution. However, there have been no reports of nonanesthetic manifestations of MH in horses with the C7360G mutation.
To describe clinical manifestations of Quarter Horses with the C7360G mutation.
Eleven Quarter Horses with the RyR1 C7360G mutation.
This prospective study included horses with suspected MH, undetermined etiology of sudden death, death within hours of onset of rhabdomyolysis, muscle rigidity, stiffness, intermittent sweating, and persistent increases in serum muscle enzyme activities. Whole blood in EDTA and skeletal muscle were processed for genetic and histochemical analysis.
Medical records and pedigrees were collected when available.
Both anesthetic- and non-anesthetic-associated *myopathic* manifestations of MH occurred in halter Quarter Horses with mutation of RyR1. The disease is inherited as an autosomal dominant trait. Clinical and laboratory abnormalities were similar in both forms. Rhabdomyolysis was a common finding in both groups of horses. Skeletal muscle histochemical findings were nonspecific and compatible with a noninflammatory
*myopathic* process.
MH is a potentially fatal disease of Quarter Horses that could be triggered by halogenated anesthetics and other nonanesthetic factors that may include exercise, stress, breeding, illnesses, and concurrent *myopathies*.
I went in for a simple tonsillectomy and had no idea that this disease was present since I'm adopted. I was in the second or third grade when this happended and ended up staying in ICU for five days and in the hospital for seven.
Just a thought, anyone interested?
A Tweet is a Powerful Noise
by michellelentz on February 26, 2009 by Michelle Lentz
You can donate your tweets. Or rather, tweet for a cause?
CARE, a global humanitarian organization that aims to fight poverty and empower marginalized women and girls in the world’s poorest countries, is sponsoring a Tweet-a-thon from March 2 - 5. Twitter users who donate their tweet on those days will secure a 10-cent donation from NCM Fathom for up to 50,000 tweets in support of CARE. The Tweet-a-thon will help promote International Women’s Day and spread the word about the acclaimed Stella C. Johnson documentary A Powerful Noise Live, to be broadcast in 450 movie theatres nationwide on March 5.
“NCM Fathom is proud to support CARE with this first-ever Tweet-a-thon,” said Dan Diamond, vice president of NCM Fathom. “We’re excited to bring Twitter users the opportunity to raise funds for CARE simply by Tweeting a specific phrase with no personal donation required. We hope Twitter users actively participate during this campaign to help support girls and women around the world.” read more at http://bub.blicio.us/a-tweet-is-a-pow...
A Malignant Hyperthermia case study appears in Joint Commission handbook for Ambulatory Care Providers $75 order at: http://bit.ly/8YL1hw