Rett syndrome

Rett syndrome is a rare neurodevelopmental disorder that primarily affects girls and leads to severe impairments in language, communication, and motor skills. It is caused by mutations in the MECP2 gene, which provides instructions for making a protein involved in the regulation of brain function.

The symptoms of Rett syndrome typically appear after the first 6-18 months of life and include:

  1. Regression of acquired skills such as crawling, walking, and hand use
  2. Loss of speech and purposeful hand movements
  3. Development of repetitive hand movements such as hand-wringing or hand-clapping
  4. Breathing irregularities, including apnea (breathing stops for short periods)
  5. Abnormal curvature of the spine (scoliosis)
  6. Intellectual disability and impaired social interaction

There is currently no cure for Rett syndrome, and treatment is primarily supportive, aimed at managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and medications to manage breathing irregularities, anxiety, and seizures.

Research into Rett syndrome is ongoing, and scientists are exploring potential treatments that may restore function to the MECP2 gene or its protein product. Gene therapy and stem cell therapy are among the promising avenues of research being pursued.

In conclusion, Rett syndrome is a devastating disorder that affects the lives of many families. However, with continued research and support, there is hope for a brighter future for individuals with Rett syndrome and their families.

Comments

Post a Comment

Popular posts from this blog

Corneal Epithelium

Image
 Layers of the cornea: Epithelium (Stratified squamous non-keratinized epithelium)  Bowman's membrane - Acellular; does not regenerate Stroma (Thickest layer) - The stroma can scar, but cannot regenerate Dua's layer (Newly discovered, toughest layer) Descemet's membrane- Ends peripherally as Schwalbe's ring; has regenerative potential Endothelium (Most metabolically active layer)- does not regenerate  The hydration level and transparency of the cornea is maintained mainly by the endothelial cells of the cornea. If the cornea becomes overhydrated, it begins to scatter light and gradually begins to lose its transparency Endothelium possesses Na+/K+ ATPase, which keeps the corneal stroma in a relatively dehydrated state. This helps in maintaining the transparency of the cornea. Endothelial cells decrease in number with age. Other factors contributing to the transparency of the cornea are as follows:  Regular arrangement of corneal lamellae ( Maurice theory ) Peculiar...
Read more

The Electromagnetic Spectrum

The electromagnetic spectrum, from  low frequency to high frequency  consists of:  Radiowaves  < Microwaves < Infrared < Visible light< Ultraviolet < X-rays <  Gamma rays W. C. Roentgen  is the father of X-ray and the first medical X-ray by Roentgen was of his wife Anna Bertha's left hand. Physicists  Peter Mansfield  and  Paul Lauterbur  developed MRI-related imaging techniques in medicine and they were awarded the Nobel prize in 2003.
Read more

Wolff Parkinson White Syndrome (WPW)

Image
Wolff Parkinson White Syndrome (WPW) is characterized by an abnormal accessory pathway in the heart leading to arrhythmias. Pathology: Born with an accessory pathway, the bundle of Kent which connects the atria and ventricle. The electrical impulses from the SA node reach the ventricles earlier via the accessory pathway as there is no AV nodal delay in this pathway. This leads to the preexcitation of the ventricle and initiation of ventricular contraction. This ventricular contraction is prolonged when the impulse via the AV nodal pathway reaches the ventricles. Most common location of the accessory pathway- between the left atrium and free wall of the left ventricle ECG changes:   Shortened PR interval(typically <120 ms) - because of the early initiation of ventricular depolarization. Prolonged QRS duration (total duration >0.12 seconds)- because of the AV nodal impulse reaching the ventricles after the aberrant impulse. Delta waves - slurred upstroke of QRS c...
Read more