Fragile X syndrome is a genetic disorder related to behavioral, intellectual, emotional, and physical characteristics of a person and is a result of gene mutation.
Fragile X Syndrome (also known as Martin-Bell syndrome) is a genetic disorder associated with the expansion of CGG (a single tri-nucleotide gene sequence) on the X chromosome. It results in the failure of effective participation of the FMR-1 gene/protein required for normal and neutral development of the offspring, and causes changes in the emotional, physical, intellectual, and behavioral features. In other words, it causes impairment in various mental activities, behavior, physical and emotional aspects, mental impairment, physical disproportion of body features, autism, problem with speech delivery, etc.
Causes
This genetic disorder is caused due to problem with the FMR-1 gene (such as mutation), which is situated on X chromosome. The probability of an offspring carrying this disorder is 1 in about 4000. The CGG codons in this syndrome are more than 230 repetitions (as against 6 to 55 repetitions in a normal case). Absence of production of FMRP (fragile X mental retardation protein) leads to onset of this disease. As mentioned above, inheritance is also one of the causes. Changes in the brain anatomy also have been identified to be a reason.
Problems Associated with the Syndrome
- In some children, this disorder may trigger autism or Autism Spectrum disorder (ASD). A study shows that about 3 to 6 percent children develop autism at varying degree because of this syndrome.
- There exists a possibility of developing tremor or ataxia syndrome that affects balance, tremor, and memory-like issues with some gene carriers.
- Some females may experience problems associated with the ovarian function leading to conditions such as issues with menopause or infertility.
- Children born with this syndrome are prone to problems, such as mental retardation, physical abnormality, problems with behavior, etc.
Symptoms
- As mentioned above, those who are suffering from this medical condition may develop mental retardation or mental control-related problems.
- Their physical, behavioral, and mental characteristics are different from those of normal people, such as large/protruding ears and testicles, elongated face, flat feet, abnormal behavior such as flapping of hands and hand biting, etc.
- Problems with speech (cluttered, nervous, or unclear speech) may be seen.
- The patient may have difficulty in concentration.
- Low muscle tone is observed.
- Females may experience problems with menopause or infertility.
- Some children may develop autism.
Diagnosis
The initial diagnosis is based on the associated symptoms, such as the patient’s speech test, and observation of the patient’s behavioral, intellectual, and physical characteristics. This disorder is also genetic; hence knowing the patient’s family history can also help. Along with the above observations, this syndrome is also determined with the help of analysis of a number of CGG repetitions and their methylation status (methylation status is found with the help of restriction endonuclease digestion and Southern Blot Analysis).
Treatment
Currently, there is no cure available for this disorder. However, there is a lot of research going on, and efforts are being made to understand the underlying causes, which has made it easy to recognize and develop new methods and therapies to treat the disease. The only help available for patients is in the form of symptom-based treatment, which includes behavioral, physical, emotional, and intellectual characteristics. Medication is used to control mental, physical, and emotional aspects, and other options such as specially devised education, behavioral therapy, etc. are also used.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert medical advice.
