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My son is 18 months old and the is no treatment so far him and they are saying that he also has a glycogen storage diease in with the seziure disorder and most of my family thinks i did something while pregnant with him but i did not anything just what the doctor said to do. any suggestion on what to do other then just take one day at a time.
Exercise Surgery Retinitis pigmentosa Failure to thrive Dementia Pregnancy Leigh syndrome Ataxia Asthma Ohtahara syndrome Hypotonia Diabetes Seizures Multiple sclerosis Blisters Epidermal nevus Pain Muscular dystrophy Amyloidosis
Here are some links that may help.
http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm
http://www.epilepsy.org.uk/info/ohtahara.html
http://pediatricneuro.com/alfonso/pg57.htm
http://www.kidsepilepsy.com/diagnosis.asp?diagid=20
http://www.kidsepilepsy.com/onetreat.asp?id=38
http://www.epilepsy.org.uk/info/syndromes.html
http://www.shenandoah.com/stories/?headlineID=6210
Good Luck,
Muriel
Amyloidosis Support Groups Inc.
thank you so much im currently at the hospital cause my son got sick and now his doctors believe that he has mitochondrial diease with the othara syndrome. Which this diease makes more since cause of the way my son is acted. They are going to redo his g tube agian tomorror for constant feeds they are going to put it in his small intenstent because his reflux is back and bad .
This is what Wikipedia has to say:
Mitochondrial disease
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Mitochondrial disease
Classification & external resources
Simplified structure of a typical mitochondrion
DiseasesDB 28840
MeSH D028361
Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that comprise higher-order lifeforms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.
Mitochondrial diseases comprise those disorders that in one way or another affect the function of the mitochondria and/or are due to mitochondrial DNA. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often referred to as a mitochondrial myopathy.
Contents [hide]
1 Mitochondrial inheritance
2 Defects and symptoms
3 Types
4 External links
[edit] Mitochondrial inheritance
Mitochondrial inheritance behaves differently from autosomal and sex-linked inheritance. Nuclear DNA has two copies per cell (except for sperm and egg cells). One copy is inherited from the father and the other from the mother. Mitochondria, however, contain their own DNA, and contain typically from five to ten copies (see Heteroplasmy), all inherited from the mother (for more detailed inheritance patterns, see Human mitochondrial genetics). When mitochondria divide, the copies of DNA present are divided randomly between the two new mitochondria, and then those new mitochondria make more copies. As a result, if only a few of the DNA copies inherited from the mother are defective, mitochondrial division may cause most of the defective copies to end up in just one of the new mitochondria. Mitochondrial disease begins to become apparent once the number of affected mitochondria reaches a certain level; this phenomenon is called 'threshold expression'.
Not all of the enzymes and other components necessary for proper mitochondrial function are encoded in the mitochondrial DNA. Most mitochondrial function is controlled by nuclear DNA instead.
Mutations to mitochondrial DNA occur frequently, due to the lack of the error checking capability that nuclear DNA has. This means that mitochondrial disorders often occur spontaneously and relatively often. Sometimes the enzymes that control mitochondrial DNA duplication (and which are encoded for by genes in the nuclear DNA) are defective, causing mitochondrial DNA mutations to occur at a rapid rate.
[edit] Defects and symptoms
The effects of mitochondrial disease can be quite varied. Since the distribution of defective DNA may vary from organ to organ within the body, the mutation that in one person may cause liver disease might in another person cause a brain disorder. In addition, the severity of the defect may be great or small. Some minor defects cause only "exercise intolerance", with no serious illness or disability. Other defects can more severely affect the operation of the mitochondria and can cause severe body-wide impacts. As a general rule, mitochondrial diseases are worst when the defective mitochondria are present in the muscles or nerves, because these are the most energy-hungry cells of the body.
However, even though mitochondrial disease varies greatly in presentation from person to person, several major categories of the disease have been defined, based on the most common symptoms and the particular mutations that tend to cause them:
[edit] Types
In addition to the Mitochondrial myopathies, other examples include:
Diabetes mellitus and deafness (DAD)
this combination at an early age can be due to mitochondrial disease
Diabetes mellitus and deafness can be found together for other reasons as well
Leber hereditary optic neuropathy (LHON)
visual loss beginning in young adulthood
Wolff-Parkinson-White syndrome
multiple sclerosis-type disease
Leigh syndrome, subacute sclerosing encephalopathy
after normal development the disease usually begins late in the first year of life, but the onset may occur in adulthood
a rapid decline in function occurs and is marked by seizures, altered states of consciousness, dementia, ventilatory failure
Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP)
progressive symptoms as described in the acronym
dementia
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
gastrointestinal pseudo-obstruction
neuropathy
[edit] External links
Mitochondrial Disease Action Committee
United Mitochondrial Disease Foundation
Mito Information at Muscular Dystrophy Association
mt-overview at NIH/UW GeneTests - "Mitochondrial Disorders Overview"
kss at NIH/UW GeneTests - "Mitochondrial DNA Deletion Syndromes"
Genetics home reference overview at NLM
"When Cells Stop Working" dated November 5, 2006 at Time Magazine
Overview at Washington University in St. Louis
Good Luck
Muriel
I want your opion on this i have read all that stuff over and over again but it doesnt help.
I guess I would show to your doctors and ask their opinions and also contact any doctors that appear to specialize in it........don't give up....
Muriel
What are your son's symptoms? He didn't happen to have blisters on his hands and feet at birth, did he? I had a son who had a very rare disease called Levy-Yeboa Syndrome and it has some of the same characteristics of mito diseases. I will be praying for your son...I know what your going through. If it is a mito disease, I hope the cocktail of drugs will help your son...my son passed away from Levy-Yeboa 2 years ago because there are no drugs whatsoever to help with that disease....the doctors don't even know what genes cause it. Feel free to email me personally....I remember what its like to practically live at the hospital!
Best Wishes,
Stacy
My son is 22 years old and was diagnosed at 4 years with Leigh's disease.....according to the metabolic doctors, he should not be alive. He was sick at birth, and started having seizures at about two months of age. The best things we ever did for him was a feeding tube and a fundoplication(fix his tummy so he can't throw up)....we also started him on a vitamin B supplement (100mgs of all the B's....three times per day). There is a great website for mitochondrial disorders....go to a search engine and look up "UMDF", which stands for united mitochondrial disease foundation. My son's condition is inherited from both his parent....caused by a recessive gene.
My granddaughter is 4 years old and was diagnosed with Leigh's disease in June after a lengthy search for what was wrong. She's seen so many pediatric specialists I can't keep track of them. Muscle biopsy by Dr. Shoffner of Horizon Medical Center in Atlanta confirmed the original diagnosis. Mr granddaughter has a stomach feed and takes the "mito cocktail" along with CO Q10. She is no longer walking though she started walking at 11 months and showed no other symptoms that we know of until around the age of 2. She was diagnosed as "failure to thrive" and with hypotonia. At 2 she had an MRI that was supposedly normal and my daughter insisted on another MRI at the age of 4, which is when the Leigh's was first diagnosed.
How is your son now? I have lots of questions and would appreciate any help or insight you could give me.
Thanks,
C. Nuckolls
My son is almost 23 years old. He has a permanent trach, has uncontrolled seizures (is on 3 meds and has a vagal nerve stimulator), has asthma, is legally blind, has electrolyte imbalance , has periodic kidney failure(if he gets dehydrated), has a port a cath in his chest for IV fluids. Right now is is quite anemic and we don't know why. He has ongoing issues with psuedo-obstructive bowel syndrome (though he has had four bowel obstructions that have required surgery). He is very thin and has poor circulation in his extremities. He is very handsome and likes to be reminded of that every day! He likes to wear nice clothes and loves to shop for them. He has a severe sense of humor! It has been a very rough two decades with many life threatening trips to the ER in an ambulance, but he has pulled himself through all of them so far. He has very low muscle tone and is total care. We try to give him as normal of a life as possible...if we are planning on going to a movie and he has a crisis that requires a bag of IV fluids, then we just bring it along with us and he gets his IV at the theatre! (He loves movies!)
I was told that there was nothing wrong with my boy when he was an infant...I knew there was something terribly wrong, but couldn't get anyone to listen to me. He had a CAT scan at two and it was normal...another at 4 years and it was normal. It seems that every time my son has had an acute episode of something, he gets worse (like before he had chicken pox at age 2, he could stand and could sit by himself...then after the bout with chicken pox, he couldn't stand anymore and then started having problmes holding up his head). Feel free to call me at 503-939-5177 (cell)...or my work number during the day at 503-722-6857. I am a social worker for adults with developmental disabilities. I would be happy to talk with you.
I am in Portland Oregon...
I must have written your phone number down wrong......please call again.
Hi Sad Mom. Sounds like your doctors are talking about CDG, or congenitol disorders of glycosylation. Our grandson, Tyler has OS, will be 13 next month and was tested for CDG a couple of months ago. We have never known the cause of his Ohtahara Syndrome and are still trying to find out. Has he been tested for the ARX gene? In the past year, this has become associated with OS. Tyler did not fall under the initial symptoms of ARX, but the new catagories have broadened the research. We did his blood work last week and are waiting the results. You are more than welcome to join us at our Ohtahara Support group. You can find us at: ohtaharasyndrome@yahoogroups.com.
Is this also a form of Epidermal Nevus Syndrome?
http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm
Above is a link to Otahara Syndrome
Good Luck
Muriel
Amyloidosis Support Groups Inc.
ASG www.amyloidosissupport.com
Hello everyone. I have a four month old son who has been diagnosed with Othara Syndrome and brain damage. I am looking for a support group and other families who have a family member with the same diagnosis. Thank you.
hi, i also have a son whos now 8 months old a nd suffers from otahara syndrom, this horrible illness is so heartbreaking, i cant believe it sometimes! how is your son and his development?? my son is around the 2-3 month yr old baby mark,which is very upsetting and frustrating, id really love to hear back from you to tell me how your getting on
thanks
abbs
hello my little boy is 7 months and has been diagnosed with ohtahara syndrome its hard to take in, its not caused by anything you do in pregnancy its just the way the brain develpoed in the first twelve weeks. it would be really interesting to talk with a mum who is going through the same hopefully we can stay in touch and support each other.
hello my son has ohtahara syndrome his 11 months old. i think its harder enough 2 take it in ur head but undecribably takin it into ur heart. its not fare on him my heart bleeds with pain worrying about him, i love him so much. its so hard just 2 watch him go through it and not be able 2 help him, it breaks my heart watchin him suffer like the way he is .
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