FRAGILE X SYNDROME WARNING SIGNS: WHAT TO LOOK OUT FOR

Overview

A genetic condition inherited from parents which results in various developmental problems like intellectual disabilities and cognitive impairment.

Symptoms

If you're experiencing new, severe, or persistent symptoms, contact a health care provider.

Symptoms include developmental problems and distinct physical features.

The development or behavior symptoms include:

• Developmental delay in crawling or walking
• Learning disabilities
• Attention deficit hyperactivity disorder (ADHD)
• Features of autism spectrum disorders that affect communications and social interaction
• Hyperactive behavior fidgeting and impulsive actions
• Anxiety
• Tremors and poor coordination

Physical features include

• Long and narrow face
• A prominent jaw and large forehead
• Large ears
• Flat feet
• Flexible joints and low muscle tone
• Large face
• Soft skin
• Enlarged testicles in males (macrocrorchidism)

→ Common treatment options

→ Questions to ask your doctor

Causes

Caused due to defect in a specific gene known as FMR1 gene, which is present on X- chromosome. FMR1 gene produces a protein called FMRP (fragile X mental retardation protein). This protein plays an important role in the development of nervous system. The deficiency in production of this protein affects the brain development.

Risk factors include:

• Family history Usually inherited directly from a parent or passed down from a parent who is a carrier
• Gender More likely among boys. Boys have one X chromosome, received from mother and one Y chromosome received from father. The defective Xchromosome is passed down from mother to the boy child. Father can only pass on to daughters.

Less likely among girls because, they have 2 X-chromosomes and even if one defective gene is passed on, they may not have symptoms but they will be carriers.

→ Do you have a health question on your mind for fragile x syndrome? Ask professionals from across the world

→ Interested to know more? Check out the full article here

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Disclaimer: For informational purposes only. Consult a medical professional for advice. Source: Focus Medica.

2024-05-09T07:43:28Z dg43tfdfdgfd