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What is Ondine’s Curse?

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Summary

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Ondine’s Curse is a rare disorder that affects breathing, especially during sleep. Kids with this condition may need help to breathe correctly.

Frequently Asked Question

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What is Ondine's Curse?

Ondine’s Curse, or Congenital Central Hypoventilation Syndrome (CCHS), is a genetic disorder affecting breathing control, primarily during sleep.

What are the symptoms of Ondine's Curse?

Symptoms of Ondine’s Curse include shallow breathing, low oxygen levels, and a decreased response to high carbon dioxide levels.

How is Ondine's Curse diagnosed?

Ondine’s Curse is typically diagnosed through genetic testing and a sleep study to assess breathing patterns during sleep.

Can individuals with Ondine's Curse lead normal lives?

With proper treatment and management, individuals with Ondine’s Curse can lead fulfilling lives, participating in regular activities and enjoying a good quality of life.

Scientific Definition

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Ondine’s Curse, formally known as Congenital Central Hypoventilation Syndrome (CCHS), is a rare neurological disorder characterized by impaired autonomic control of breathing, particularly during sleep. This condition results from the abnormal development of nerve cells in the brain and spinal cord that regulate involuntary functions like breathing. CCHS affects approximately 1 in 200,000 live births.

Helpful Resources:

Genetics Home Reference
National Organization for Rare Disorders
National Institute of Neurological Disorders and Stroke

Video Explanation

video-explanation

Symptoms of Ondine's Curse

Treatment for Ondine’s Curse typically involves:

  • Mechanical ventilation: Kids may need a ventilator to help them breathe, especially during sleep.
  • Tracheostomy: A surgical opening in the windpipe may be necessary to provide a stable airway.
  • Diaphragm pacing: An implanted device can stimulate the diaphragm to improve breathing.
  • Medications: Drugs like acetazolamide or medroxyprogesterone may help stimulate breathing.
  • Monitoring: Regular check-ups and sleep studies are crucial to monitor the child’s condition.

With proper treatment and support, many kids with Ondine’s Curse can lead relatively everyday lives. However, this condition requires lifelong management and close medical supervision.

Treatment of Ondine's Curse

Symptoms of Ondine’s Curse can vary but often include:

  • Shallow or absent breathing during sleep
  • Bluish discoloration of the skin (cyanosis)
  • Fatigue and daytime sleepiness
  • Headaches and irritability
  • Developmental delays
Symptom Description
Abnormal breathing during sleep Shallow, irregular, or absent breathing
Cyanosis Bluish discoloration of lips, fingers, and toes
Daytime fatigue Excessive sleepiness and low energy levels

Symptoms usually appear shortly after birth but can sometimes develop later in infancy or early childhood. Prompt diagnosis and treatment are essential for managing this rare condition effectively.