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Carbon Dioxide - MedlinePlus Genetics

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Last Updated: 10 January 2023

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Alveolar capillary dysplasia with misalignment of pulmonary veins

A condition that affects the formation of the lungs and their blood vessels is called alveolar capillary dysplasia with misalignment of pulmonary veins. In ACD/MPV, other abnormalities of the blood vessels in the lungs also occur. The veins that carry blood from the lungs to the heart are incorrectly positioned and can be mistakenly bundled together with arteries that carry blood from the heart to the lung. The muscle tissue in the arteries' walls may have been overgrown, resulting in thicker artery walls and a narrower channel. ACD/MPV infants with additional anomalies are born. Infants with ACD/MPV suffer respiratory distress from birth to a few hours after birth. Infants with ACD/MPV have not been reported to live beyond one year of age, and the majority of affected infants live only for a few weeks.

Source link: https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins


Congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome is a condition that can cause normal breathing. People with CCHS have this nervous system response impaired. Symptoms of CCHS usually appear within a few weeks after birth, when affected infants hypoventilate after falling asleep. For example, people with CCHS may have trouble regulating their heart rate and blood pressure in reaction to exercise or body position changes, in addition to the breathing problem. People with CCHS may have additional difficulties with the nervous system. Approximately 20% of people with CCHS have abnormalities in the nerves that control the digestive tract, resulting in severe constipation, intestinal blockage, and colon enlargement. Many people with CCHS are also at risk of acquiring neuroblastomos, ganglioneuromas, and ganglioneuroblastomas. In addition, people with CCHS have eye abnormalities, including a decreased response of the pupils to light.

Source link: https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome


Actin-accumulation myopathy

Actin-accumulation myopathy is a disorder that mostly affects skeletal muscles, which are muscles that the body uses for mobility. People with actin-accumulation myopathy have significant muscle weakness and poor muscle tone throughout the body. Affected babies are often described as 'floppy,'" and may be unable to move on their own. The muscles used for breathing are also affected by the severe muscle wasting that occurs in actin-accumulation myopathy. Actin-accumulation myopathy derives from characteristic accumulations in muscle cells of filaments made of a protein called actin. When muscle tissue is examined under a microscope, these filaments can be seen.

Source link: https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy


Obstructive sleep apnea

Obstructive sleep apnea is a condition in which people experience pauses in breathing during sleep that are often associated with partial or complete closure of the throat. Individuals with obstructive sleep apnea may experience disturbed sleep with frequent awakenings and snoring. People with obstructive sleep disorder (apnea) are at a higher risk of motor vehicle accidents in the daytime sleepiness factor.

Source link: https://medlineplus.gov/genetics/condition/obstructive-sleep-apnea

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions