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Doctor insights on: What Can I Do To Treat Rett Syndrome

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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.

Dr. Seema Lalani
64 doctors shared insights

Rett Syndrome (Definition)

A rare genetic mutation affecting ...Read more


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What is rett syndrome?

What is rett syndrome?

Complex genetic prob: Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.Rett syndrome occurs almost exclusively in girls and may be misdiagnosed as autism or cerebral palsy.Studies have linked many rett syndrome cases to a defect in the mecp2 gene. This gene is on the x chromosome. Females have two xs. Males do not live.

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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.

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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.

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What's transmission of rett syndrome?

What's transmission of rett syndrome?

Rare genetic: Rett syndrome can be associated with a specific gene marker that can be transmitted to a child. However, it is rare to find such an association since most girls with rett do not have children. It is usually a sporatic disorder that occurs without reason.

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What are the tests for rett syndrome?

What are the tests for rett syndrome?

Clinical: A girl who begins life seeming normal but develops autistic-like features can usually be diagnosed by a skilled clinician who can tell if it is rett's. Several genes are known, and can be tested for purposes of counseling / peace of mind, but some remain undiscovered. Good luck.

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What are the symptoms of rett syndrome?

Regressed developmen: The hallmark is a developmental regression usually starting in the first 2 years. This is associated with loss of visuion

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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.

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What is the karyotype of someone with rett syndrome?

What is the karyotype of someone with rett syndrome?

Normal: Karyotyping usually shows normal 46 XY or 46 XX karyotype. Needs to do specia probe to look for gene mutation for MECP-2 gene

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I want to know what's the karyotype of rett syndrome?

I want to know what's the karyotype of rett syndrome?

Genetics: Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the x-linked mecp2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal x-chromosome. For more info, consult with a geneticist.

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What is the definition or description of: Rett syndrome?

What is the definition or description of: Rett syndrome?

Rett syndrome: Jett's is a genetic syndrome seen in females with me protein disturbance that causes neurodevelopment delays, delayed walking, speaking and waving arms/hands, misdiagnosed as autistic syndrome. A developmental pedi MD can tease this out. There is no cure and a limited lifespan.

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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.

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Is there a cure for rett syndrome?

No: This is a progressive, debilitating disease that predominantly effects the nervous system. The patient often appears normal in infancy but the abnormalities are hard wired into the system and have no available treatment. Supportive care allows patients the best possible life within their short lifespan.

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What is the cure for rett syndrome?

What is the cure for rett syndrome?

No cure: The treatment for Rett syndrome is supportive. At every stage of the process the kid will need basic health care and assistance with support services. The goal is to preserve the best quality of life while the patient lives.

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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.

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My daugther diagnos of a rett syndrome case she is awake frm. 10am to 7pm, what medicine should I give her o sleep ar night.Thanks?

My daugther diagnos of a rett syndrome case she is awake frm. 10am to 7pm, what medicine should I give her o sleep ar night.Thanks?

Homeopathy: I'd recommend: coffea cruda 9 c: 5 pellets at night, under the tongue, or diluted in few cc of water, it is sweet, safe, no side effect. You can find it online or in health vitamins store. Manufactured in the usa by boiron, fda approved, inexpensive and again safe. Good night!

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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.

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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.