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Related Concept Videos

Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
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Rett syndrome: case reports and review.

R P McIntosh1, D Simatos, H J Weston

  • 1Department of Obstetrics and Gynaecology, Wellington School of Medicine.

The New Zealand Medical Journal
|March 28, 1990
PubMed
Summary

Rett syndrome is a rare neurodevelopmental disorder causing psychomotor deterioration in young girls. Early diagnosis and understanding of its genetic basis are crucial for managing this progressive encephalopathy.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Rett syndrome is a progressive neurodevelopmental disorder primarily affecting young females.
  • Characterized by normal early development followed by psychomotor deterioration between 6-18 months.
  • Incidence is comparable to phenylketonuria and autism in females.

Observation:

  • Key features include decelerated head growth after 6 months.
  • Development of severe dementia, autism, apraxia, and stereotypic hand-wringing movements.
  • Loss of acquired skills is a hallmark of the syndrome.

Findings:

  • Supportive symptoms encompass breathing dysfunction, seizures, EEG abnormalities, and growth retardation.
  • Sporadic new mutations are indicated as the primary cause.

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  • Presents case histories of two diagnosed patients in New Zealand.

    • Implications:

    • Highlights the importance of recognizing Rett syndrome's distinct clinical profile.
    • Emphasizes the role of genetic mutations in the etiology of this encephalopathy.
    • Underscores the need for continued research into diagnosis and therapeutic strategies.