What is Rett’s Syndrome – Causes and Symptoms

Rett syndrome is a disorder affecting major component of the central nervous system called the grey matter. Females are exclusively affected by this disorder. It is because the male fetuses with the disorder rarely survive to term. Moreover there is no record of the disorder in males. This article tries to learn about the causes and symptoms of this disorder.

Causes of Rett’s Syndrome: Cells are the building blocks of life. Genes are the chemical instructions which are followed by cells to function normally. A bunch of genes together form a gene set or a chromosome. There are several factors which can cause a change in the chemical structure of the genes. This phenomenon is technically known as mutation. Mutations in the gene MECP2 located on the X chromosome causes Rett’s Syndrome.

In 95 percent of cases, the disorder is not inherited. In some rare cases, it is believed that the male copy of the X chromosome contains the mutated MECP2 gene causing this disorder in the child. The reason behind what causes the sperm to undergo mutation and create such a chromosome is not known yet.

Symptoms of Rett’s Syndrome: Most of the signs of this disorder are similar to autism and cerebral palsy. In babies, the symptoms go undetected for the first 6-18 months.

  • Screaming fits
  • Inconsolable crying
  • Avoidance of eye contact
  • Panic attack
  • Loss of speech
  • Lack of emotional/ social reciprocity
  • Non-verbal behaviours used in impaired manner for social interaction
  • General lack of interest
  • Gastrointestinal problems
  • Sensory problems
  • Hypotonia
  • Dystonia
  • Grinding of teeth or bruxism
  • Spasticity of some kind
  • Ataxia
  • Movement difficulties
  • Delayed ability to walk
  • Spasmodic movements of hand or facial muscles or chorea
  • Abnormally small head or poor head growth technically called microcephaly
  • Malnutrition due to difficulty in swallowing
  • Short stature
  • Balance and coordination problems
  • Losing the ability to walk
  • Scoliosis
  • Hyperventilation
  • Sighing
  • Breath holding

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