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Doctor insights on: Rett Syndrome Mutation Analysis

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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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Dr. John Landi Dr. Landi
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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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How can you tell a child has mild rett syndrome?

How can you tell a child has mild rett syndrome?

Genetic testing: RettĀ“s syndrome is a genetic disorder almost always affecting girls. Genetic testing as well as a very detailed exam can give you answers. Typically girls start off with normal development up until about 18 months, sometimes the first symptom is the arms and legs get floppy, and loss of hand movements that are purposeful. It afects the brain, cognition and breathing patterns amongst other things. ...Read more

Dr. Joshua Batt Dr. Batt
<b>1</b> doctor agreed:
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Managing Carpal Tunnel Syndrome (Checklist)

Visit your medical provider for accurate diagnosis
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Wear a wrist brace at night
daily
Take pain medications as directed
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Use proper posture when performing tasks
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What are the odds of having another child with rett syndrome?

What are the odds of having another child with rett syndrome?

Very low: 99.5% of the time, there is just one child with rett syndrome in a family. This rare genetic condition occurs almost always in girls. It's caused by a mutation of the mecp2 gene on the x chromosome. The international rett syndrome foundation (http://www.Rettsyndrome.Org/) can be very helpful. ...Read more

Dr. Felix Toro Dr. Toro
<b>1</b> doctor agreed:
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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Listen, listen, listen
once
Practice stress management and mindfulness
2x day
Do not be afraid to Ask for feedback
3x day
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Is there a conncection between rett syndrome and bald spots?

Is there a conncection between rett syndrome and bald spots?

Nice question: Rhett's syndrome is a pervasive developmental disorder peculiar to girls. Odd & purposeless hand motions such as excessive rubbing can lead to focal areas of hair loss. Trichtillomania (neurotic pulling out hair) requires purposeful fine motor coordinated action to pull hair. So rubbing is the way a rett child would lose hair patches. ...Read more

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What can I do to treat rett syndrome?

What can I do to treat rett syndrome?

Rett syndrome: Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use .Treatment may include: assistance with feeding and diapering, methods to treat constipation and gerd, physical therapy to help prevent the hands from contracting, weight bearing exercises for those with scoliosis. There is no specific treatment. ...Read more

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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Reverse PCOS & problems with HFLC foods, study: http://goo.gl/JH8XBX
daily
Monitor your weight and review your diet daily.
daily
Blend exercises which make sense into your daily routine
daily
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What causes Rett Syndrome ? Can adults get Rett Syndrome? I hope not!

What causes Rett Syndrome ? Can adults get Rett Syndrome? I hope not!

Genetic disease: Rett syndrome is a neurodevelopmental disorder caused by a mutation in a gene which occurs almost exclusively in females. The disease manifests itself within a year or so of birth. Children lose the ability to speak, develop stereotypic and unique midline hand movements and develop a clumsy gait. Adults can't get it. ...Read more

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Does rett syndrome make girls overweight?

Does rett syndrome make girls overweight?

Probably not: This is a very rare disorder: 1 in 10, 000 due to an x-chromosome linked genetic disorder. Feeding is a problem, esophageal reflux is common, and death is sometimes due to malnutrition. Here is a national institute of health link: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0002503/ i've never seen a case and few doctors have. I sympathize with your child's condition. Good luck. ...Read more

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Living with Down Syndrome (Checklist)

Get genetic counseling.
Once
Enroll in early intervention program.
Once
Get help from local and national support groups.
Once
Consider help from mental health workers.
Once
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What is the best therapy for rett syndrome?

What is the best therapy for rett syndrome?

Supportive: Unfortunately, there is no treatment that will cure this process. Each patient will gradually accumulate a series of medical needs as the disorder progresses.A primary doc is needed to coordinate care and handle basic needs and specialty docs would be needed on a periodic basis.The focus of care is preserving function for as long as possible and maintaining a quality of life. ...Read more

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Rett syndrome caused by efexor neonatal use?

Rett syndrome caused by efexor neonatal use?

No: This syndrome is caused by a gene mutation, and as such will be present at conception. The exposure of a developing fetus after the fact will not change this mutation.This sporadic syndrome occurs without any exposure to ssri meds or any other defined agent prior to pregnancy or during pregnancy. ...Read more

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Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
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Start a trial of increased dietary fiber
Once
See your PMD or gastroenterologist if symptoms persist
Once
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Who makes rett syndrome diagnosis?

Who makes rett syndrome diagnosis?

Pediatrician: A good experienced pediatrician can make the diagnosis, especially if they have other patients with rett's. ...Read more

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Can someone explain rett syndrome?

Can someone explain rett syndrome?

Disorder OF NERV SYS: Rett syndrome is a disorder of nervous system, it leads to developmental reversal, especially in areas of expression and hand use it happens mostly in girls and is often mis diagnosed as autism etc. There is normal development 6to18months symptoms vary mild and severe severe language/developmental problems, loss social intraction, loss of purposefull hand motions, ataxic gait, breathing problems, &more. ...Read more

Dr. Seema Lalani
64 doctors shared insights

Rett Syndrome (Definition)

A rare genetic mutation affecting ...Read more