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Doctor insights on: Fragile X Syndrome Treatments

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What causes fragile x syndrome?

What causes fragile x syndrome?

Chromosome defect: Patients with fragile x have a defective x chromosome. There are several variants, and not all cells may be affected. It is full disease only in males, but females can be carriers. It is a genetic disorder, but it often just occurs without warning. Affected boys can vary from normal to severe retardation and autism. There is no cure. ...Read more

Dr. Barbara Trommer
129 doctors shared insights

Fragile X Syndrome (Definition)

A genetic disorder where there is a mutation of the fragile X mental retardation 1 (FMR1) gene on the X chromosome. Affected individuals may have large ...Read more


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Is Fragile X Syndrome fatal?

Is Fragile X Syndrome fatal?

Fragile X: per say is not fatal. Males are more likely to be accident prone and suffer seizures than females. The risk of seizures is 17-40% depending on the series studied. (Much higher than this in my series of patients) Ataxia, hypotonia and unpredictable responses to changes in environment can lead to accidents. But the disease itself is not fatal. ...Read more

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What is fragile x syndrome?

Defective chromosome: Each person has 23 pair of chromosomes. Males have xy and females xx. Some persons have a defective x with a portion that is missing. In females the other x compensates and they have no clinical problems. In males the defective x can result in retardation and/or autism. Some with defect can be normal but transfer problems to their sons. ...Read more

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How prevalent is fragile x syndrome?

How prevalent is fragile x syndrome?

See below: Fragile x syndrome is the most frequent form of inherited intellectual disability. The prevalence in men runs from 1 in 4, 000 to 1 in 6.000. The prevalence in women is estimated at 1 in 10.000. ...Read more

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What causes of fragile x syndrome?

What causes of fragile x syndrome?

Gene mutation: Fragile x syndrome is due to a mutation within the fmr1 gene on x chromosome. Part of the gene gets repeated too many times. It is the most common genetic cause of intellectual disability. Please see: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0002633/ and http://www.Fragilex.Org/ for more information. ...Read more

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Is fragile x syndrome dominant or recessive?

Is fragile x syndrome dominant or recessive?

X linked: This syndrome emerges when a male has a fragile x from his asymptomatic mother and a y from his father. If he were she, a normal x from dad or mom would cancel the fragile x effect. ...Read more

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Need to know about fragile x syndrome? What is fragile x syndrom?

Need to know about fragile x syndrome? What is fragile x syndrom?

Male dominated: The fragile x is named for a non staining region on the long arm of an x containing useless genetic material that results in mental impairment & physical changes(if you only have 1 x:males).The females usually show few if any features due to protection by a normal x, but not always & have a 50% chance of passing the fragile x to any offspring. This is a male dominated form of mental impair ...Read more

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Fragile x syndrome, is it preventable, how?

Not preventable: while there is no way to prevent fragile X disorder, treatment with folic acid, a vitamin can be helpful with the behaviours if necessary. Behavioral therapy, applied behavioral analysis, A variety of medications are available for symptoms. You should consult a specialist working with children with Fragile X. ...Read more

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Whats the genetic cause of fragile x syndrome?

Whats the genetic cause of fragile x syndrome?

Defective gene: It is an anomaly in the long arm of the x chromosome. Full mutations of the gene cause the fragile x syndrome. ...Read more

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Please tell me, are people with fragile x syndrome tall?

They can be: I have several patients with fragile x that are average height or taller. ...Read more

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What age does fragile x syndrome show up?

Birth: You can be suspicious at birth. Here is some information: http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/ ...Read more

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Do people with fragile x syndrome have normal lives?

Do people with fragile x syndrome have normal lives?

Of course: But then again who among us can claim to have a normal life? Men and women with fragile x syndrome can be, just like the rest of us, happy or unhappy, fulfilled or frustrated, sick or well, socially busy or lonely, and all points in between. Many people with fragile x syndrome have limited capacity for advanced learning, and very few marry and/or have children. Learn more at http://www.Nfxf.Org/. ...Read more

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What sort of disorder is fragile x syndrome?

What sort of disorder is fragile x syndrome?

Mental retardation: Mental retardation, autistic behavior, large testicles, long face, and large ears. Mainly seen in boys (but inherited from mother). Diagnosed by a blood test. There is an expanded dna segment called a trinucleotide repeat. This expanded dna segment is located on the x chromosome. ...Read more

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How common is fragile x syndrome in us?

How common is fragile x syndrome in us?

Depends on your dfn: Significant impairment (iq<70) in FAS is felt to represent 1/3600 of the population, mostly male. A lesser form of involvement with lesser alterations in this gene (add, behavior issues) may affect 1/130-250 female & 1/250-800 males. See: www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2888470/?Tool=pmcentrez. ...Read more

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Fragile x syndrome questions? Do they look different?

Fragile x syndrome questions? Do they look different?

Yes: Most often mentioned features include relatively large head, thickened nasal ridge, large ears & dental crowding. ...Read more

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What are the differences between fragile x syndrome and down syndrome?

What are the differences between fragile x syndrome and down syndrome?

Different chromosome: Fragile x is a condition created when an abnormality in a faulty x chromosome is allowed to interfere with the cells in the body. In females, their other x prevents most problems while males with a y cannot block the abnormality. Down syndrome has a whole or extra piece of a 21 chromosome in every cell which interferes with normal cell function. ...Read more

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Is fragile x syndrome the same degree of retardation as down syndrome?

Is fragile x syndrome the same degree of retardation as down syndrome?

Variable: They are both "genetic" conditions but they are different in the spectrum of issues they present-. People with fragile x may have subtle cognitive impairments all depending on how affected the fmr1 gene is. People with downs have an extra chromosome and kids have delayed cognition as well as physical growth and frequently heart problems.. They both may exhibit autistic traits, more so fagile x. ...Read more

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Can there be some drug treatment available for fragile x syndrome?

See Below: Since Fragile X is a genetic disease, there is no treatment for the disease itself. There are options for treating some of the symptoms of Fragile X (ADHD, seizures, or other behavioral disorders). ...Read more

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What is the detection for fragile x syndrome?

What is the detection for fragile x syndrome?

Detection fragile x: Fragile x syndrome causes symptoms of autism and intellectual disability and can only be diagnosed by doing chromosome , which shows the fragile x gene on x chromosome.It is a x linked dominant condition.It is passed from females through x chromosomes. ...Read more