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A condition that affects the lungs and their blood vessels is characterized by alveolar capillary dysplasia with misalignment of pulmonary veins. Inhaled oxygen enters the bloodstream for dissolution throughout the body, and carbon dioxide leaves the bloodstream to be exhaled. In ACD/MPV, other abnormalities of the blood vessels in the lungs also occur. The veins that carry blood from the lung to the heart are incorrectly positioned and can be mistakenly bundled with arteries that carry blood from the heart to the lungs. New abnormalities in infants with ACD/MPV are present. Infants with ACD/MPV typically experience respiratory distress within a few minutes to a few hours after birth. Infants with ACD/MPV have not been known to live beyond one year of age, and most of the affected infants live only for a few weeks.
Congenital central hypoventilation syndrome is a condition that causes normal breathing. People with CCHS have an elevated risk of this nervous system response. When affected infants hypoventilate after falling asleep, signs of CCHS become apparent right after birth. For example, people with CCHS may have trouble controlling their heart rate and blood pressure in reaction to exercise or changes in body position in addition to breathing difficulties. People with CCHS may have additional issues with the nervous system. About 20% of people with CCHS have abnormalities in the nerves that control the digestive tract, resulting in extreme constipation, intestinal blockage, and colon enlargement. People with CCHS are also at a higher risk of experiencing neuroblastomas, ganglioneuromas, and ganglioneuroblastomas. In addition, students in CCHS have eye abnormalities, with decreased pupil to light's response.
Actin-accumulation myopathy is a disease that mostly affects skeletal muscles, which are muscles that the body uses for mobility. People with actin accumulation myopathy have severe muscle weakness and poor muscle tone throughout the body. The muscles used for breathing are also affected by the severe muscle weakness associated with actin-accumulation myopathy. Individuals with this disorder can take shallow breaths, especially during sleep, resulting in a lack of oxygen and a buildup of carbon dioxide in the blood. Actin-accumulation myopathy derives from characteristic deposits in muscle cells of filaments made of a protein called actin.
Obstructive sleep apnea is a disorder in which people experience pauses in breathing during sleep that are associated with partial or complete closure of the throat. Individuals with obstructive sleep apnea may experience interrupted sleep with frequent awakenings and snoring. Individuals with obstructive sleep apnea have a higher risk of auto accidents on daytime.
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