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Fragile -X Syndrome / Marker X Syndrome

What is Fragile X Syndrome or Marker X Syndrome? How to manage it? What are the precautions to be taken? What are the signs and symptoms? What is the cause of this disease? How to treat it? How can homeopathy help you? All of this answered, in this post and of course our doctors always there to help you. Just fill in your details in the form down below and we will answer all your questions for FREE!

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    fragile x syndrome

    What is Fragile X Syndrome?

    Fragile X syndrome is the most common cause of inherited mental retardation.

    It is the second most common cause of genetically associated mental deficiencies after trisomy 21.

    Fragile X syndrome occurs because the mutated gene cannot produce enough of a protein that is needed by the body’s cells, especially cells in the brain, to develop and function normally

    Who are at risk of getting affected with Fragile X syndrome?

    Fragile X syndrome is an inherited disorder which is present at the time of birth.

    Females carry the gene abnormality 2-4 times more often than males. The pattern of inheritance most closely resembles X-linked dominance.

    What are the causes of Fragile X syndrome?

    • Fragile X is a change in a single gene called the Fragile X Mental Retardation 1 (FMR1) gene, usually found on X chromosome.

    • Down syndrome

    • Repeat in a genetic code

    •PKU ( phenylketonuria )

    •During Pregnancy -excessive use of alcohol, exposure to poisons in the environment, and diseases such as rubella.

    What are the signs and symptoms of Fragile X syndrome?

    • Elongated face, large/protruding ears (one or both)

    • Low muscle tone ( hypotonic )

    • Flat feet, soft skin

    • Middle ear infections

    • Sinusitis

    • Stereotypic movement (hand –flapping)

    • Limited eye contact

    • Memory problems

    • Large testes in men after puberty

    • Social anxiety

    • ADHD in the majority of males

    • Hyperactivity

    • Lazy eye ( strabismus )

    • High risk of seizures

    What investigations are advised for Fragile X syndrome?

    • IQ ( intelligence quotient )

    • Neuropsychological history

    • Family, developmental, cognitive, and neuropsychological histories

    • Screening and diagnosis in utero or during infancy

    • Delayed Milestones in the first year of life, like delays in speech and language, are notable, and impairment of fine motor skills.

    • Impairment of Language Expressive ability, short-term memory, and problem-solving skills.

    • Patient’s (IQ) also is an indicator of the presence of mental retardation (20-70) which could be mild-to-severe

    • Patients have many neuropsychological features, including depression, general and separation anxiety, and oppositional defiant disorder.

    What is the differential diagnosis of Fragile X syndrome?

    • ADHD

    • Asperger Syndrome

    • Marfan Syndrome

    • PDD (Pervasive Developmental Disorder)

    • PDD (Rett Syndrome)

    What treatment is advised in cases of Fragile X syndrome?

    • Genetic counseling is important to inform patients and families.

    • Speech and language therapist

    • Occupational and physical therapist

    • Special education professional behavior problems.

    • Neurologist: Consult a neurologist if seizures persist.

    •An ophthalmologist opinion is important for cases affected by strabismus.

    • Gastroenterologist

    • Folic acid supplementation

    • New medication’s trials, such as fenobam, that act as mGluR5 antagonists are still in process.

    What is the prognosis for Fragile X syndrome?

    There is no shortening of life expectancy

    What are commonly indicated Homeopathic remedies for Fragile X syndrome?

    • Ambra grisea

    • Alumina

    • Anacardium orientale

    • Cannabis indica

    • Thuja

    What is dietary advice for patients suffering from Fragile X syndrome?

    • Special education is needed for patients with fragile X syndrome

    • Behavioral therapy and speech therapy help in leading an easy life

    • Genetic counseling helps

    • Prophylactic treatment is suggested such as anti-depressants, stimulants, anti-convulsants, and anti-psychotics

    For more information, you can visit Wikipedia and NIH.

    Fragile X Syndrome / Marker X Syndrome

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    Our main aim is to make the patient comfortable so that the case can be taken with ease and the patient be treated properly.

    ** The text on this website is sourced from websites like emedicine and/or other verified material by government agencies around the globe along with valuable inputs and additions by our team. The content of this page is proofread and updated by the team of doctors, every once in a while, to provide the most accurate information.

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