Symptoms and Signs of Fragile X Syndrome

Fragile X syndrome is characterized by mental retardation, autistic-like behavior, intellectual deficits, learning difficulties, emotional problems, and social anxiety along with a distinct physical appearance.

The signs and symptoms and severity of fragile X syndrome depend on the degree of abnormality in the genes and vary from patient to patient. Men usually suffer from a more severe form of the disease than females. Most commonly, the characteristic features appear during adolescence. This is especially true for intellectual disabilities and characteristic physical features in men, which become obvious at puberty.

Symptoms and Signs of Fragile X Syndrome include:

1. During infancy and childhood, children may display impaired motor skills and delay in speech and language. The child may also experience poor muscle tone, gastric reflux, vomiting and rarely, failure to gain weight during infancy and childhood. Toilet training may also be delayed.

2. Patients with fragile X syndrome usually have a lower than normal IQ.

3. Patients exhibit autistic-like features such as poor eye contact, toe walking and hand flapping. They may suffer from attention deficit-hyperactivity disorder (ADHD)-like features, depression, shyness, social anxiety, emotional problems, occasional seizures, self-injurious behavior and also may exhibit features of conditions such as obsessive-compulsive disorders, sensory integration disorder or both.

Attention Deficit Hyperactivity Disorder

4. Many patients are extra sensitive to certain sensory stimuli such as loud noise, bright light or feel of certain clothing, which may cause them to display behavioral problems.

5. Fragile X syndrome patients exhibit certain abnormalities in bones, muscles and joints such as flat feet, funnel or sunken chest, lax joints, curved spine and joint dislocation. Facial features that include long, thin face with prominent forehead and jaw, protruding ears and enlarged testicles in males. These features are more prominent in adolescent and adult patients.

6. Mitral valve prolapse, a heart valve defect is often observed in affected patients.

Fragile X Syndrome Mitral Valve

Symptoms of Fragile X Tremor/Ataxia Syndrome (FXTAS)

Both males and females who are premutation carriers of FXS are at a risk of developing fragile X tremor/ataxia syndrome (FXTAS). The characteristic features include intention tremor, coordination and balance problems, unusual slow movement, dementia, reduced sensation, numbness, tingling pain, anxiety, depression and irritability.

Symptoms of Primary Ovarian Insufficiency (POI)

Females with FXS premutation carriers could develop primary ovarian insufficiency (POI). In this disorder, ovaries of affected females stop functioning normally at an age of 40 or below.

References:

  1. Fragile X Syndrome - (http://emedicine.medscape.com/article/943776-overview)
  2. The Tarsal Tunnel Syndrome in Hypothyroidism - (http://jnnp.bmj.com/content/46/5/440.full.pdf)

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