what is it like to have smith magenis syndrome?
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****Go to the website, there's alot more info. there. Good luck with you're project.\n\n\nIntroduction\n\nSmith-Magenis syndrome (SMS) is a distinct and clinically recognizable genetic disorder characterized by a specific pattern of physical, behavioral, and developmental features. SMS, which was first described in the early 1980's by Ann C.M. Smith, MA (a genetic counselor) and Ellen Magenis, MD (a cutogeneticist), is the result of a deletion of chromosome 17 (17p11.2). The chromosomal deletion occurs from a spontaneous genetic change (mutation) that happens for unknown reasons, therefore, it is not a familial disorder. SMS is considered a rare disorder and is estimated to occur in 1 out of every 25,000 live births. Currently there are over 100 cases reported, however, it is believed that SMS is widely underdiagnosed because clinical features may be subtle. It is expected that with increased awareness, the number of those identified as having SMS will increase.
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Introduction \nGuillain-Barre syndrome (GBS) is also called as acute idiopathic polyradiculoneuritis. This is the most common aquired demyelinating disease. This disease is characterized by the inflammatory disorder of the peripheral nerves. The incidence of Guillain-Barre syndrome is one in 100,000. The life time risk for any one individual getting Guillain-Barre syndrome (GBS) is 1/1000. All age group may affected by GBS. Both sexes are equally affected. The disease is characterized by weakness of limbs and numbness and tingling sensation over the limbs, body and the face. Mild cases of Guillain-Barre syndrome may present only with ataxia (difficulty in walking and balancing), whereas severe cases may present with difficulty in respiration due to paralysis the respiratory muscles and cranial nerves. \n\nWhat causes Guillain-Barre Syndrome? \nThe actual cause for Guillain-Barre syndrome is still not known. It may be an autoimmune disease; in which antibodies are directed against the peripheral myelin (myelin is the sheath covering of the peripheral nerves and is responsible for faster conduction of nerve signals). \nA mild respiratory or gastrointestinal infection may be present 1-3 weeks before the onset of neurological symptoms in 60% of the patients.   Infection with Campylobacter jejuni is the most often found association with Guillain-Barre syndrome. \nViral infection, minor surgery, immunization, mycoplasma infection may also be a preceding event in Guillain-Barre syndrome.  High frequency of occurrence of this Guillaine-Barre syndrome is found in the following conditions than in the normal population: Hodgkin's disease, lymphoma, systemic lupus erythematosis. \n\nWhat are the symptoms of Guillaine-Barre syndrome? \nMost of the patients present with numbness and tingling of the limbs in the initial phase of the disease.   The major complaint is the weakness of limbs which will be mostly symmetrical. Both proximal and distal parts of the limbs are affected. The lower limbs are affected first. Then the weakness spreads to trunk, respiratory muscles, upper limbs, neck muscles and cranial muscles.  Sometimes the weakness may progress to complete paralysis of the body leading to respiratory difficulty and death in a few days. About 50% of the patients, complaint of pain and aching discomfort of the hip, thigh and back muscles. \nFacial muscle weakness may be present in 50% of the cases. Facial muscle weakness usually comes after the upper arm weakness.  Difficulty in passing urine (urinary retention) occurs in 15% of the patients. \n\nHow do you diagnose Guillaine-Barre syndrome? \nMost of the time, a thorough neurological examination with laboratory investigation will clinch the diagnosis of Guillaine-Barre syndrome. \n\nFeatures required for diagnosis of Guillain-Barre syndrome (GBS) : \nProgressive motor weakness of more than one limb: \nFrom minimal weakness with or without ataxia (difficulty if balancing) to complete paralysis, which may include cranial nerves. Proximal muscles are more affected than distal ones. \nAreflexia(loss of muscle stretch reflexes)-usually universal \n\nFeatures strongly supportive of diagnosis of Guillain-Barre syndrome (GBS) : \nProgression of the motor weakness in the patient peaks at 2 weeks in 50%, by 3 weeks in 80% and by 4 weeks in 90%. \n\nThere is relative symmetry of weakness in the body. That is, both half of the body are equally affected. \n\nMild sensory symptoms-mild tingling and numbness in hand and feet. \n\nCranial nerve involvement: Facial weakness in 50%, usually bilateral. \n\nOropharyngeal muscles (muscles of the oral cavity and throat) may be affected. \n\nRecovery of the patient starts usually by 2-4 weeks after the progression stops, but may be delayed by months \n\nTachycardia (increase in heart rate), postural hypotension \nFever, sensory loss with pain, bladder paralysis (urinary retention) \n\nLumbar puncture is done and the Cerebrospinal fluid (brain fluid) is e
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Wow.....this disease usually strikes young adults in their early 30's. My sister has had it for 10 years and a close friend has had it for almost 15 years. MS is different for both of them. My sister has long periods of time when she's fine and then she'll have spells of being extremely tired and the muscles in her legs are like jelly......my friend goes to the National Health Institute periodically for a new kind of medication given by needle. The new medication is given on a case by case basis.  Without the medicine her systems are chronic.... no energy ....loses her balance....blurred vision.....unable to stand. With the medication she still has those symptoms but not quite so bad. It's a hell of a disease. Has your friend had a 2nd opinion?
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Don't ride this mom so hard for being concerned about her child's well being.  The fact that the pediatrician has ordered tests rather than offer reassurance says there may be something there.  Like any disease or syndrome, Turner's can present with a spectrum of severity.  There may be some other clues like widely spaced nipples or slight neck webbing in addition to short stature and delay of menarche, that is concerning the physician.  Turner's is an absence of the second sex chromosome, so the person has 45 chromosomes and is referred to as XO, with the O meaning absence of the second X chromosome.  They can live long and meaningful lives, but don't have the capability to reproduce.  There may be slight cognitive impairment or none at all.  Best wishes on this, but even if she has Turner's remember that there are lots of worse things she could be diagnosed with.
722265
Yes I have...It is a something that runs in my family...I believe it is called Menier's (not sure of the spelling)Disease...It is caused when the water level in the middle ear is disrupted...My father takes anti-vert, although from what he has told me a person can build up immunity to its effects...He does get it very bad at times and he is aware of its onset, so he takes 1/2 of a Valium which reduces the anxiety of knowing that he may be laid up in bed for a week, but it does seem to help him with the symptoms...or...get this...he puts the hair drier to his ear...the gentle air flow seems to help level out the water imbalance...he is 76 years old so he has become quite proficient in his own health care...He was also told about a surgical procedure...but that could possibly leave you deaf...I like the hair drier idea myself...contact your doctor and ask your family members if they have had it...I know my paternal grandmother had it, my father has it, and I get it too...My best preventive is just move more slowly, avoid wild amusement park rides, and when I'm on a boat or a passenger in a  fast moving car, I NEVER look down...only forward...I hope this has helped...
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Depends on the severity.. I had a friend that had it.. and it didnt really bother her that much.. However, I have read that it can really affect people especially at an older age..  so it all depends..
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http://www.nlm.nih.gov/medlineplus/ency/article/002542.htm\n\nRead the symptoms.
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Yes. its a common problem. the clinical term in spidermanoroism. The effects can be intense and sohrt lived, or not so severe and prolonged. in some cases it has been know to lead to sticky fibre scresion from varuious pourous parts of the body
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sure i've heard of it.  but i'm in med school so that's expected.  however, my gramma did have it a while back.  apparently, it's probably just about the most awful thing you can suffer from.  you're constanly sick and dizzy no matter what you do.  i'd probly kill myself if i got it.
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I think you are referring to Mobius Syndrome.  Mobius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems; and speech difficulties. Small or absent brain stem nuclei that control the cranial nerves, as well as decreased numbers of muscle fibers, have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. The prognosis for otherwise normal development is excellent in most cases. There is no specific course of treatment for Mobius syndrome. Treatment is supportive and in accordance with symptoms.  You can read more here\nhttp://healthlink.mcw.edu/article/921441372.html
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well what symptoms do  u have
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Doing a search in yahoo brought up this:\n\nMénière's (pronounced "men-years") disease is a disorder of the inner ear that affects hearing and balance. It causes sudden attacks of vertigo (a spinning sensation), tinnitus (a loud ringing in the ears\n\nSo I'd say yes. On the otherhand, unless that's been an official diagnosis I wouldn't jump to that conclusion. You can get dizziness from any problem with the inner ear, such as an inner ear infection. Ear infections I've had many, many times. (Sometimes I'd just close my eyes and lose my balance.) It goes without saying (so I'll say it!), if you're suffering from dizzy spells, you should definately talk to a doctor. (I used to think inner ear infections were just annoying, until I found out the infections can lead to permanent hearing loss.) Good luck.
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Yes,it is a skin condition,affecting mainly the palms and soles.\nThe symptoms are:\n1. Thickening of the skin of the palms and soles- this can be generalised,focal or punctate .--that's either the whole palm or sole is thickened,or just specific parts.\n2.Hyperpigmentation of the thickened parts--they get darker and/or redder.\n3.Associated factors differ with the corresponding syndrome.\nTreatment is with a drug called Acitretin.Prognosis is good.
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simple answer, no.\n\nthe bugs are one small symptom of M. another is 'brain fog', lots of confusion, and the inability to come to conclusions. The 'bugs' are accompanied with lesions & skin excretions in the form of small balls and filaments .\n\nI am sure diet, sleep, walking will help... but this could be more serious and may require a doctor's visit.\n\nI am not a doctor, but a Morgellons survivor!\n\nvisit http://morgellons.org and take the test! I don't think her symptoms match up.\n\ngood luck & good health.
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It depends on the syndrome.  \n\nGenerally we define a syndrome as a condition for which an etiology is not known.  We understand that there is something wrong, but we do not know why it is happening.  For example, in the 1980's, it was clear that certain people would develop a depressed immune system, but not clear why.  We still call that condition Acquired Immune Deficiency Syndrome or AIDS, although we now know it to be caused by HIV, and could properly call it HIV disease.\n\nThere is Irritable Bowel Syndrome, Turner Syndrome, Asperger's Syndrome, Fahr's Syndrome, etc.  \n\nMost syndromes don't have treatments per se, because if we don't know what is causing the problem, we have a hard time treating it.
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Hello again there!  Sorry to hear about how you feel.  I also have CFS or abstein bar.  I'm a bit of a pro at it, the difference with me is that I am a new person after my treatment. CFS starts out as Mononucleosis (MONO) the virus which if untreated turns to CFS, so that's why my doctor treats it with Valtrex.  Depression and anxiety come with CFS which also causes joint and muscle soreness, that's where the antidepressants come in.  As far as the fybromyalgia the only thing I know for it is pain management and that is something I don't dare explain because I have no personal experience but from my mother having it I know it's not easy to treat. Listen, if your doctor disagrees with the treatment that I just described to you as far as the CFS then you need to find someone who is more open to your health solutions. I love my doctor, he's so wonderful that my trust in him is unmentionable. I know it's scary to try someone new, but you need to feel better.  Wouldn't you like to feel normal again?  Be able to get up when you wake up and go.  Not fall asleep at the wheel.  You get my point.  I'm a new person and I have a new baby.  Believe me it feels good to be awake and the weight of the world is now a lot more manageable.  By the way drinking makes it worse, a lot worse!  So if you do, you need to take a break until you're all better.  Believe me it didn't help me any, I thank GOD for today. Chat with you later   I hope this info helps u a little bit. By the way if you're having trouble with a day at a time, try an hour at a  time.  Sounds like you're under a lot of stress and that makes the CFS worse all of the time.  Help is on the way,  you'll be alright. My doctor always reassured me that I'd be o.k., he is very involved with his patients and that's why everyone loves and trusts him so much
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You feel very light like you can feel all the atoms in your body vibrating,  It's Goooooooood  Real   gooood\nYou can see the needles and feel the pain, but somehow you could just care less, doesn't bother you at all.  \n\nIt's SHHHHHHWeeeeet. \n\nBut it causes birth defects, mostly to the dental staff working there, thats why I don't have it in my office. Maybe when we all become old hags I'll get some.