Top
20
Doctor insights on: What Is Fragile X Syndrome Symptoms

Share
1

1
What are the symptoms of fragile x syndrome?

What are the symptoms of fragile x syndrome?

See below:: The most noticeable and consistent effect of fragile x is on intelligence.>80 percent of males have an IQ of 75 or less. Females may have mental impairment, learning disabilities, or a normal iq. Associated problems: sensation, emotion, and behavior. Currently there is no definitive, single treatment for fragile x. Appropriate education, behavioral or physical therapy, and medication can help. ...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


2

2
What symptoms do people with fragile x syndrome usually have?

What symptoms do people with fragile x syndrome usually have?

Varies: The symptoms of fragile x can manifest differently in different people. Some common signs of fragile x include learning disabilities, long ears, faces, and jaws and/or loose, flexible joints, and social, emotional, or behavioral challenges;speech impediments. ...Read more

4

4
What are the symptoms of fragile x syndrome and is there anything to do?

Autistic spectrum: Fragile x produces the complex symptoms that are seen in this spectrum. At the lower end of the spectrum is high functioning add/ adhd and autism is at the low functioning high end. Fragile x is at the ujpper end of asd. ...Read more

5

5
What are the symptoms of fragile x syndrome and is there anyway to fight them?

What are the symptoms of fragile x syndrome and is there anyway to fight them?

See below:: The most noticeable and consistent effect of fragile x is on intelligence.>80 percent of males have an IQ of 75 or less. Females may have mental impairment, learning disabilities, or a normal iq. Associated problems: sensation, emotion, and behavior. Currently there is no definitive, single treatment for fragile x. Appropriate education, behavioral or physical therapy, and medication can help. ...Read more

6

6
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

7

7
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

See 1 more doctor answer
8

8
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

9

9
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

See 2 more doctor answers
10

10
What number of people know what is fragile x syndrome?

A genetic disorder: Both males and females have an X chromosome (girls have two, boys have one and one Y chromosome). Fragile X is a genetic problem that causes a range of developmental issues, including learning disabilities. Males are more severely affected because they only have one copy of the X chromosome. They can have symptoms that resemble attention deficit disorder or learning issues. ...Read more

11

11
Wondering if retardation in a teen boy is fragile x syndrome?

Wondering if retardation in a teen boy is fragile x syndrome?

Delay: Fragile x syndrome is one of the most common reasons for inherited developmental delays in boys. Fragile x patients can be identified thru genetic testing and how they might look on physical exam. Such delays can be seen in lots of kids without a diagnosis of fragile x. So that means that boys w/developmental delays can't be labeled as fragile x, w/o genetic test confirmation. ...Read more

See 1 more doctor answer
12

12
How prevalent is fragile x syndrome in the population (in general)?

Unknown: Because autism is so common, we do not know whether this is cause or effect. I have treated fragile x in the same way as other kids who are autistic. There is some basic science info that suggests that the fragile chromosome is lacking in folate (folic acid) and we know that autistic kids cannot use folate (folic acid) and have to be given folinic acid to get around this. A lot more research is needed. ...Read more

13

13
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

See 4 more doctor answers
14

14
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

15

15
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

16

16
What is a fragile x syndrome?

Genetic problem: Fragile x syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Http://ghr. Nlm. Nih. Gov/condition/fragile-x-syndrome. ...Read more

17

17
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

18

18
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

19

19
What's the cause of fragile x syndrome?

What's the cause of fragile x syndrome?

Genetic: Fragile x is caused by just one defective gene. This gene also known as fmr1, shuts it self down and fails to produce a protein. The incidence is 1 in 4000 males and 1 in 6-8000 females have it is the most common cause of inherited mental disability-. ...Read more

20

20
Fragile x syndrome my baby, what to do?

Fragile x syndrome my baby, what to do?

Developmental help: Fragile X syndrome can predispose your baby to developmental and learning issues. It is important to have your baby evaluated by Early Intervention, a program to support infants with delays. Call your doctor to get this information. ...Read more

See 1 more doctor answer