Top
40
Doctor insights on: Beckwith Wiedemann Syndrome

Share
1

1
Is there a syndrome that reverses aging?

Is there a syndrome that reverses aging?

Not aware.: Dorian gray syndrome: exists only in literature. All of the contrary, on progeria pts are children that accelerate the rate of aging and look and have the diseases of old people and die very young from diseases of the elderly. ...Read more

2

2
I have all the symptom of guillam barre syndrome. It's started last month April 18 this and the sign and symptom progress and days and weeks.

I have all the symptom of guillam barre syndrome. It's started last month April 18 this and the sign and symptom progress and days and weeks.

May be another thing: Guillian Barre' is typically a rapidly progressive ascending polyneuropathy that can result in an inability to breath. It is associated with a number of infections, medications, toxic exposures, but the source is often unknown. You MUST seek immediate medical care with Neurology consultation diagnose this issue. See the link below: http://www. Ninds. Nih. Gov/disorders/gbs/detail_gbs. Htm ...Read more

3

3
Managing Carpal Tunnel Syndrome (Checklist)

Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
4

4
What are the common signs that people with down's syndrome share?

What are the common signs that people with down's syndrome share?

Down's syndrome: It is a chromosome disorder. It affects chromosome 21. People that have down's syndrome, share certain facial characteristics, such as epicanthal folds and low set ears. Developmental delay, poor tone are also common. ...Read more

5

5
Funny how a diagnosis doesn't mean much till you have it. What is reiter’s syndrome?

Funny how a diagnosis doesn't mean much till you have it. What is reiter’s syndrome?

Inflammation: Reiter's syndrome is sometimes termed reactive arthritis. In susceptible individuals (often with marker called hla b27 in their blood), there is joint inflammation, as well as inflammation of the urethra and conjunctivitis. The reaction may be to a prior infection elsewhere in the body. Reiter's should be evaluated and treated by an ophthalmologist and rheumatologist. ...Read more

6

6
Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Practice stress management and mindfulness
2x day
Do not be afraid to ask for feedback
3x day
7

7
Is it easy to diagnose sjögren’s syndrome?

Is it easy to diagnose sjögren’s syndrome?

Depends: A full blown case can be easily diagnosed by physical examination and laboratory tests. ...Read more

8

8
Is jacob syndrome detectable through prenatal diagnostic tests?

Is jacob syndrome detectable through prenatal diagnostic tests?

Yes: Jacob's xyy is badly misunderstood. It makes a man taller, more at risk for acne, and he may speak later. The rubbish about "natural criminal" is fully discredited; if he's a bit more aggressive -- hey, in our world I think that's a good thing. As an internet physician with an interest in xyy, I've saved the lives of over a dozen unborn children; many thank-you's and no one says they chose wrong. ...Read more

9

9
Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Monitor your weight and review your diet daily
daily
Blend exercises that make sense into your daily routine
daily
10

10
Baby's Down syndrome test results are definite, right?

Baby's Down syndrome test results are definite, right?

Chromosome accurate: If you mean chromosomal analysis, the results will be definite. ...Read more

11

11
What are the tests for netherton's syndrome?

What are the tests for netherton's syndrome?

Netherton Syndrome: Is diagnosed by molecular genetic testing for mutations of the SPINX gene on Chromosome 5q32. Other tests to determine the level of severity are found on www. Genecards. Org/cgi-bin/carddisp. Pl? gene=SPINK5&search=spink5. Geneticists, dermatologists & other specialists provide diagnosis & management. See: www. Firstskinfoundation. Org/content. Cfm/Ichthyosis/Netherton-Syndrome-Fact-Sheet/page_id/901 ...Read more

12

12
Living with Down Syndrome (Checklist)

Enroll in an early intervention program
Once
Get help from local and national support groups
Once
Consider getting help from mental health professionals
Once
13

13
Can you tell me about aspergers syndrome or knows people with it or knows about it well?

Can you tell me about aspergers syndrome or knows people with it or knows about it well?

Long topic: I will need to refer you to a website:www. Ncbi. Nlm. Nih. Gov
asperger syndrome is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat behaviors, and clumsiness. ...Read more

14

14
What are the actual causes of this syndrome?

Need More Info: I need more information to understand your question. Please ask the question using specific information about the syndrome you are asking about. ...Read more

15

15
Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
Once
Start a trial of increased dietary fiber
Once
See your primary care physician or gastroenterologist if symptoms persist
Once
16

16
Is neuropathy associated with guilain barre syndrome treatable and if so, how do I treat it and relieve the painful symptoms? My neurosurgeon just informed me that I have g.B.S. And had it since may 2011 following a stomach flu I had 2 weeks before my sym

Is neuropathy associated with guilain barre syndrome treatable and if so, how do I treat it and relieve the painful symptoms? My neurosurgeon just informed me that I have g.B.S. And had it since may 2011 following a stomach flu I had 2 weeks before my sym

Your: Your case presents a few dilemmas. Gbs is a group of autoimmune diseases targeted at the peripheral nerves and causing acute progressive weakness, usually an ascending paralysis.

The history usually entails the following:
•upper respiratory or diarrheal disease within previous 1–3 weeks in 50–70%: c. Jejuni (~40%), cytomegalovirus (13%), epstein-barr virus (10%), mycoplasma pneumoniae (5%), or hiv
•dysesthesias (painful tingling), paresthesias (tingling) of the feet and hands are usually the earliest symptoms.
•pain is common- especially back pain which can radiate to the legs and not usually associated with myalgias (muscle pain).
•gait disorder common in all age groups- this is the most common presentation in children
•neck muscle weakness, dysphagia, and dysarthria are predictors of respiratory failure.

The physical exam frequently reveals the following:
•acute, symmetric, and usually ascending weakness of limbs within days of dysesthesias
•areflexia (no reflexes) or hyporeflexia (reduced reflexes) and muscle weakness, decreased position and vibratory sensation
•respiratory muscle paralysis 30% if untreated
•cranial nerve involvement <50%; usually facial weakness, 10–20% ophthalmoparesis (loss of eye movement)
•dysautonomia (abnormal autonomic nervous system responses) (50%): labile blood pressure, arrhythmias, ileus (paralysis of bowel function), urinary retention;
•miller-fisher variant: ophthalmoplegia, ataxia, areflexia

important lab tests
•csf: elevated protein and normal white blood cells (wbcs; albuminocytologic dissociation) are characteristic with a normal opening pressure.
•emg: this shows a pattern of demyelination with prolonged latencies and a reduced motor compound action potential.

The medications usually used are one or more of the following:
•immune globulin (ivig)
•plasmapheresis or plasma exchange

most patients reach the plateau phase within 3 weeks of admission, and muscle strength is expected to improve. The prognosis is:
•complete recovery: 50%
•some residual disability: 45%
•severe permanent disability: 5%

hence, the dilemma as you report no improvement and in fact worsening. Furthermore, a lesion within the spinal cord (myelopathy) can present with similar symptoms as the ones you provide. A few pertinent questions to help discern the cause would include whether you have had a lumbar puncture and EMG and what did these results show?
I hope this answers your questions. Good luck and well wishes. ...Read more

18

18
Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check your cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
19

19
What is marfan's syndrome and how is it treated?

What is marfan's syndrome and how is it treated?

See below: Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures.

Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

Vision problems should be treated when possible.

Monitor for scoliosis, especially during the teenage years.

Medicine to slow the heart rate may help prevent stress on the aorta. ...Read more

20

20
Are there official recommendations for treating churg-strauss syndrome?

Are there official recommendations for treating churg-strauss syndrome?

Yes: You need to see an asthma or pulmonary specialist for specific treatment. Every patient is different and need to be treated individually. What works for one patient might not work for another. This disorder can be well-controlled with simple therapy but the occasional exacerbation does happen and needs immediate treatment. ...Read more

21

21
Living with Chronic Fatigue Syndrome (CFIDS) (Checklist)

Don't overdo it when you have more energy than usual
Once
Try slow and steady movement like qigong, tai chi, or yoga
Once
Consider natural medical alternatives such as dipsacus
Once
22

22
I live in france and have been diagnosed with fernand vidal syndrome. Is this malady recognized in the usa?  if so, what is the recommended treatment?

I live in france and have been diagnosed with fernand vidal syndrome. Is this malady recognized in the usa?  if so, what is the recommended treatment?

Yes: It is known as aspirin exacerbated respiratory disease (AERD) in the USA. Treatment includes: asthma therapy (usually leukotriene modifying agents, e.g. Singulair); medical and surgical management of chronic rhinosinusitis; and either avoiding all cox-1 inhibiting NSAIDs (e.g. Advil, (ibuprofen) Aleve) or aspirin-desensitization followed by daily aspirin. ...Read more

23

23
What are some proposed treatments for Down syndrome kids?

Downs Syndrome: Early intervention, therapy and special education is all you can do. Some kids with downs syndrome are capable of independent living, others in group homes and some in their own family system with a little understanding. Gene therapy and stem cell therapy? May be in near or no so distant future. ...Read more

24

24
My wife is suffering from benign hyper mobility syndrome and been diagnosed with it couple of days back. She is 37 years old, is there any cure?

My wife is suffering from benign hyper mobility syndrome and been diagnosed with it couple of days back. She is 37 years old, is there any cure?

None per se....: Hypermobility is a causes for accelerated osteoarthritis. It can be helped with proper sporting activities: 1. They should be non-concussive. 2. They should avoid pivoting of jumping-tennis, volleyball, etc. 3. Bicycling proipable best aerobic activity. 4. Strengthening opposing muscles-bicepts instead of triceps will help hypermobile elbows! Good luck! ...Read more

25

25
Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc), cardiovascular (dilated aortic root, valve trouble etc.), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck. ...Read more

26

26
I had steven johnson syndrome - sulphas - can I get this again with other drugs?

I had steven johnson syndrome - sulphas - can I get this again with other drugs?

SJS: Although it is possible, the risk of having sjs a second time with a second unrelated drug would be exceedingly rare. ...Read more

28

28
My mom gets premenstrual syndrome, so am I likely to get it later?

My mom gets premenstrual syndrome, so am I likely to get it later?

Yes: Risk factors:
high caffeine intake, stress may precipitate condition, increasing age, history of depression, family history, dietary factors (low levels of certain vitamins and minerals, particularly magnesium, manganese, and vitamin e) and also vitamin d. ...Read more

29

29
Is bertolotti's syndrome a genetic problem?

Is bertolotti's syndrome a genetic problem?

Bertolotti's Syn-: Drome is a congenital anomaly of the lower lumbar vertebrae & a cause of back pain in children, teens & adults. I could find no specific genetic mutation known to be the cause. ...Read more

30

30
How can you inherit down syndrome?

How can you inherit down syndrome?

Depends on parents: An unaffected mother or father could have a balanced (normal) set of chromasome material where a piece of one 21 chromasome is stuck on another. If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds. It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read more

32

32
Are there ways to prevent having a child with downs syndrome?

Are there ways to prevent having a child with downs syndrome?

Yes: Most often, down's syndrome, or trisomy 21, occurs in women over the age of 35 and increases with age. For people at risk, there are definitive diagnostic tests (cvs and amniocentesis) that can confirm or rule out a chromosomal abnormality. Also, most states offer comprehensive screening tests that inform patients whether they are at increased or decreased risk of carrying a down's syndrome baby. ...Read more

33

33
How do I avoid developing cauda equina syndrome?

How do I avoid developing cauda equina syndrome?

Doctor: If you have a history of lumbar disc herniation or spinal stenosis, check with your doctor to see if the compression seen on imaging studies warrants concern. If you have no history of lumbar issues, then your risk is extremely low of ever developing this condition in one's lifetime. There is no screening for this pathology for prevention. ...Read more

34

34
Are there treatments for beckwith wiedemann syndrome?

Are there treatments for beckwith wiedemann syndrome?

It depends: Like most genetic syndromes, there can be few or many symptoms or signs. Treatment depends on the severity, and if treatment is possible. Some people may have ti and never be diagnosed with it because the signs are minor. See https://ghr. Nlm. Nih. Gov/condition/beckwith-wiedemann-syndrome ...Read more

35

35
What is beckwith wiedemann?

What is beckwith wiedemann?

Congenital Dz: Beckwith-wiedemann syndrome
beckwith-wiedemann syndrome is a congenital condition that causes a baby to have a large body, enlargement of some internal organs as wells as possible seizures, low blood sugar, undescended testicles, feeding difficulties with a large tongue, umbilical hernia & lethargy etc. ...Read more

36

36
My consultant suspects growth disorder possibly beckwith wiedemann or gigantism, why do we have an opthalmologist?

My consultant suspects growth disorder possibly beckwith wiedemann or gigantism, why do we have an opthalmologist?

Evaluate pituitary: Growth hormone is produced by the pituitary gland, which lies in the brain just behind the eyes. Over production of GH may be caused by a pituitary tumor, which might cause papilledema or visual field changes. ...Read more

37

37
What's the Kundalini syndrome?

What's the Kundalini syndrome?

Kundalini: The Kundalini syndrome has been reported in people with near-death experiences or with some types of yoga & meditation. The main sx is a feeling of energy or heat at the spine. It can also include severe headaches, sense of energy or heat in the hands, ecstasy, body tremor or vibration, sense of heat or cold moving through the body, sensing inner lights as well as other tactile experiences. ...Read more

38

38
Can sjogen's syndrome be cured?

Can sjogen's syndrome be cured?

See below: There is no true cure for autoimmune diseases such as sjogren's---our goal is to put them into remission with medications so that you can feel better. ...Read more

39

39
What is gillian barre syndrome?

What is gillian barre syndrome?

Autoimmune: An autoimmune disease that attacks the myelin sheaths on your peripheral nerves. Usually starts in feet an ascends. Sometimes starts in the eyes. ...Read more

40

40
What is XYY syndrome or disease?

What is XYY syndrome or disease?

Extra Y chromosome: About one man in 1000 has an extra Y chromosome and it's likely to be discovered only if there's some investigation because of some problem such as autism. This has given rise to the myth that autism, criminal behavior and so forth are more common in such men. They average taller and tend to get worse acne. The "criminal" claims haven't held up to real science. ...Read more

Find us on Facebook