Genetic beriberihttp://www.socialanxietysupport.com/for ... sad-50694/
Genetic beriberi. An inherited medical condition in which the body cannot absorb thiamine from food. Example of genetic beriberi may include subacute necrotizing encephalopathy (SNE), maple syrup urine disease and lactic acidosis.
Genetic beriberi is fairly rare, so I'll explain it. It is genetic condition in which the person gradually loses the ability to absorb vitamin B1 (thiamin) through the stomach lining. The effect of B1 starvation is very much like a systemic, slow-moving MS because when the body goes into B1 starvation, it harvests B1 from the myelin coating of the nerves. According to medical studies, beriberi is "not supposed to occur" in North America, so it was 15 years after I first began experiencing moderate pain/symptoms that I finally got diagnosed. The treatment is very simple - liquid B1 is injected and absorbed via the muscles. Remyelination takes time, but is possible.
I wanted to let you all know about an underdiagnosed condition called genetic vitamin B1 deficiency, or "genetic beriberi". The Singhalese phrase "beri beri" translates literally into "I can't, I can't", an apt description of the debilitating effects that vitamin B1 deficiency has on a person. It has symptoms that are very similar to the pain and fatigue that people who have MS and/or Fibromyalgia experience, so if you have wondered if you have MS or Fibromyalgia, have been diagnosed with MS or Fibromyalgia, or know someone who has MS or Fibromyalgia, please read the info under the cut, it could save lives. Please note that I do recognise the existence of Fibromyalgia, I am just concerned about misdiagnosis because the symptoms can be so similar.
Comprehensive info & symptom list behind the cut . . .
Genetic vitamin B1 deficiency is supposed to be rare, but I believe it is more underdiagnosed than rare based on one doctor's finding four people who have it once she started testing for it. I believe that the four people were discovered over a period of a few years. That's a lot for just one doctor testing.
Genetic beriberi arises from a yet unknown/unmapped genetic instruction that tells the body to lessen and eventually stop its digestion of vitamin B1 (also called thiamin or thiamine). This is similar to the lessening of absorbtion of vitamin B12 that some people experience as they grow older, a condition for which people were seldom tested decades ago but which is commonly looked for now.
Genetic beriberi CAN BE FATAL. It can cause irreparable lesions in the brain. It causes fatigue at the mitochondrial level of the cell because the mitochondria cannot produce energy efficiently without vitamin B1. It can cause brain stem changes. It strips myelin from the nerves, including the nerves of the brain. It is also incredibly easily treatable, and it appears that a great deal of the muscular damage/disability and some of the cognitive problems it causes can be reversed.
In North America and Europe, doctors on the whole DO NOT test for vitamin B1 deficiency/beriberi unless the person is suffering from overall malnutrition, or unless the person is a chronic alcohol abuser who does not take much vitamin B1 in through their diet. A person with genetic vitamin B1 deficiency can be in serious vitamin B1 starvation without appearing malnourished, without ever touching a drop of alcohol, and while taking in ample vitamin B1 through their diet. The problem with the genetic variant of beriberi is that no matter how much vitamin B1 the person is eating or taking orally in the form of vitamins, the body's mechanism to break it down in the intestines is malfunctioning and therefore B1 passes unutilized through the system and is excreted intact. MOST DOCTORS DO NOT KNOW THAT A GENETIC FORM OF BERIBERI EXISTS, THEREFORE THEY DO NOT LOOK FOR IT EVEN IF THE PERSON DISPLAYS SEVERE SYMPTOMS OF IT. The National Institute of Health (U.S.A.) http://www.nlm.nih.gov/medlineplus/ency
... 000339.htm does now recognise that genetic beriberi exists, but only because I wrote them citing my doctor's research into it after she diagnosed me with it and asked them to please look into it and post information about it on their beriberi page. Genetic beriberi is only on the very edge of medical recognition at this time, so people need to spread awareness of it to those who may have it. It can be found by a simple blood test - merely finding out the level of B1 present in a person's blood. It is treatable by the person injecting vitamin B1 (for life) since though the stomach can no longer break the B1 down, the muscle tissues still can.
The symptoms of genetic beriberi can vary widely from person to person. There is a possibility that the lessening of B1 absorbtion can happen quickly or over decades (no one is sure what dictates the time frame for absorbtion shutdown). When the body goes into B1 starvation, it harvests B1 from the myelin sheath covering the nerves as this is the body's best source of "backup" vitamin B1. Loss of myelin results in symptoms that are similar to MS and Fibromyalgia
The symptoms can include but are not limited to:
Increasing tingling and loss of sensation, beginning with the extremities and working toward the torso. Tingling may or may not be present and can be present in some extremities but not others.
Loss or lessening of ability to taste food or smell odors. Can be mistaken for a similar side effect of depression.
Loss of hair on the backs of fingers, hands, feet, and toes
Loss of hair on arms
Thinning of hair on the head
Increasingly poor vision
Increasingly poor hearing
Trouble thinking/cognitive fogginess
Memory problems, long or short-term or both
Unexplained pain, pain that is non-responsive or barely resposive to pain medication
Unexplained muscle stiffness, stiffness that is non-responsive or barely responsive to muscle relaxants
Difficulty writing or holding a pencil, much like that seen in Carpal Tunnel Syndrome, may be misdiagnosed as Carpal Tunnel Syndrome despite additional numbness of other parts of the body
Pain that has been diagnosed as "psychosomatic"
Pitting edema in warm extremities
Increasing problems with muscle coordination
Increasingly frequent falls
Change in gait
Increasing problems with balance
Trouble with word recall and speech syntax
Increasing problems with muscular coordination of speech/slurring words
Unexplained muscle weakness
Insomnia or sleep disturbances
Sudden Cardiac Failure
Anger over & above the norm for situations
Poor or heightened appetite
Crying jags (my experience, I don't know about anyone else)
Antidepressants or mood stabilizers have little to no effect on mood
Swelling at base of neck despite thyroid levels being normal
Eyes pronounced/slightly bulging despite thyroid levels being normal (my experience)
Self-mutilation or binding of extremities as a way of coping with tingling and lack of sensation (especially if the individual has limited or no means of verbal expression), can be mistaken for suicide attempts
Rocking, listening to loud music, banging head/causing pain or injury to oneself, frequent or constant swiveling in swivel chair, or other means of heightening sensory input since touch, taste, hearing, and smell are dulled
A label of "Overdependence" on others as cognitive function wanes, ability to process emotions wanes, and pain wears the person down
Change in handwriting (my experience)
Inability to comprehend, plan, or carry out activities that once presented no difficulty
Loss of interest in sex/can't feel much physical sensation sexually/unable to achieve orgasm because the person cannot get enough stimulation to do so despite what should be adequate or more than adequate stimulation
"Dwelling" on problems -- cognitive and emotional processing are lessened, so person makes repeated unsuccessful attempts to cope with stress
Increasing muscle tics or spasms (my experience)
An official/medical/psychological characterization of the person as being unwilling to face their problems/overcome their challenges when people who know the person well know the person is making every effort to address the problem (this just seems to be a trend in those diagnosed)
Deterioration of heart, brain, and peripheral nervous system
Healing from beriberi is painful as the myelin rebuilds and nerves regain feeling, but the pain does abate and the muscles can again become functional to a great degree (too small a sample size so far to say how much). Though I referred to Ruth Ryan, M.D.'s (along with Suzanne T.V.P. Sundheim, M.D. and Bronwen Magraw, M.D.) paper "Beriberi Unexpected", I take all responsibility for the above content and any unintentional misinformation it may contain. Persons with genetic beriberi may need to boost their intake of other B and water-soluble vitamins while the system's B1 level is restored. Consumption of fermented teas and fish may interfere with absorbtion of B1.
Thanks for your time and take care
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