Ondine’scurse, also known as Central Hypoventilation Syndrome (CHS), is adisorder that leads to respiratory arrest during sleep. The conditioninvolves defects of the systems that control breathing in humanbeings. The disease presents as Acquired Central HypoventilationSyndrome (ACHS) or congenital (CCHS) and may be fatal if not treated(Spriggs,2014).It develops when one has a severe trauma or injuries in the brain.However, cases of congenital are rare and mostly occur due to thefailure of the autonomic breathing regulation. Statistics show thatthere are about 1,200 cases across the globe. In addition, thecondition affects both men and women equally.
Thecommon symptoms include night apnea and neuroblastoma, a tumor in thesympathetic ganglia. Hirschsprung disease is also a major sign, andit presents as a partial agenesis enteric in the nervous system. Inaddition, susceptible individuals experience Dysphagia, acidosis,hypoxemia, and nocturnal hypoventilation (Teofilo,2012).Physicians also check for the darkening of the skin as a result ofinsufficient oxygen in the victim’s body. The patients may alsoexperience sensitivity to narcotics and sedatives leading to morecomplications in the respiratory system. Pulmonary hypertension mayoccur due to insufficient air in the body.
Otherassociated complications include gastroesophageal reflux, fainting,learning disabilities, seizures, and ophthalmologic issues. Butkovand Lee-Chiong (2007), provide that other visiblesigns in the patients include abnormal pupils, lack of spontaneousinhalation, feeding difficulties due to acid reflux, diminishedintestinal motility, and impaired bowel functioning.
Thecondition results from injuries in the brain and spinal trauma.According to Spriggs(2014),PHOX2B is also the chief causative gene. In some instances, thecondition develops right after birth. During diagnosis, a sleep studyis undertaken to evaluate the severity of breathing difficulties.Neurological, cardiac and respiratory tests are conducted to rule outthe presence of other disorders.
Physiciansdirect that it is better to conduct an early diagnosis to avoidfurther body complications that may be associated with low periods ofoxygen inhalation. However, there are risks during diagnosis due toinconsistencies in the severity of the signs and symptoms. Lack ofhealth information among a given population hinders early detectionand management. There are, therefore, increased fatalities when thediagnosis is delayed (Butkov& Lee-Chiong, 2007).
Treatmentof this disorder centers on providing patients with breathingsupport, mostly via a ventilator or a respirator. Forms of managingthe situation may differ from one person to another depending on theseverity. According to Teofilo(2012), somepeople may require a ventilator during the day and night. Others whoare not seriously affected may only require the support during sleephours. Nevertheless, there are those who require surgical implants intheir diaphragm muscle to allow electrical stimulation that controlsbreathing. Although victims may lead active lives after treatment,they need to be supervised while undertaking some activities likeswimming and running. Such monitoring is necessary to identifyresultant complication such as shortness of breath while engaging invigorous activities. Although Ondine’s curse is a lifelong disorderit does not alter life expectancy of the patient if treated at theright time.
Butkov,N., & Lee-Chiong, T. L. (Eds.). (2007). Fundamentalsof sleep technology.Philadelphia: Lippincott Williams & Wilkins.
Spriggs,W. H. (2014). Essentialsof Polysomnography.Massachusetts: Jones & Bartlett Publishers.
TeofiloLee-Chiong, M. D. (2012). Fundamentalsof sleep technology.Philadelphia: Lippincott Williams & Wilkins.