Hypocapnia (from the Greek words υπό meaning below normal and καπνός kapnós meaning smoke), also known as hypocarbia, sometimes incorrectly called acapnia, is a state of reduced carbon dioxide in the blood. Hypocapnia usually results from deep or rapid breathing, known as hyperventilation. Hypocapnia is the opposite of hypercapnia. Effects
Even when marked, hypocapnia is normally well tolerated. Symptoms include tingling sensation (usually in the limbs), abnormal heartbeat, painful muscle cramps, and seizures. Acute hypocapnia causes hypocapnic alkalosis, which causes cerebral vasoconstriction leading to cerebral hypoxia, and this can cause transient dizziness, fainting, and anxiety. A low partial pressure of carbon dioxide in the blood also causes alkalosis (because CO2 is acidic in solution), leading to lowered plasma calcium ions (Hypocalcaemia), causing increased nerve and muscle excitability. This explains the other common symptoms of hyperventilation—pins and needles, muscle cramps and tetany in the extremities, especially hands and feet.Because the brain stem regulates breathing by monitoring the level of blood CO2 instead of O2, hypocapnia can suppress breathing to the point of blackout from cerebral hypoxia, as exhibited in shallow water blackout. Hypocapnia also results in bronchoconstriction in order to decrease ventilation. This mechanism is meant to counteract hyperventilation, and decrease the amount of oxygen coming into the lungs. The bodys "goal" is to have a relatively even ratio of the partial pressure of oxygen to the partial pressure of carbon dioxide. Chemoreceptors in the body sense a change in partial pressures and pH (hydrogen ion concentration) in the blood.
Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function. A distinguishing feature is its association with kinky, or curly, hair; in such cases it has been called Giant axonal neuropathy with curly hair. Genetics
Giant axonal neuropathy results from mutations in the GAN gene, which codes for the protein gigaxonin. This alters the shape of the protein, changing how it interacts with other proteins when organizing the structure of the neuron.Neurons affected by the altered protein accumulate excess neurofilaments in the axon, the long extension from the nerve cell that transmits its signal to other nerve cells and to muscles. These enlarged or giant axons cannot transmit signals properly, and eventually deteriorate, resulting in the range of neurological anomalies associated with the disorder.This disease is an autosomal recessive disorder, which means the defective gene is located on an autosome, and both parents must have one copy of the defective gene in order to have a child born with the disorder. The parents of a child with an autosomal recessive disorder are carriers, but are usually not affected by the disorder. Diagnosis
Giant axonal neuropathy usually appears in infancy or early childhood, and is progressive. Early signs of the disorder often present in the peripheral nervous system, causing individuals with this disorder to have problems walking. Later, normal sensation, coordination, strength, and reflexes become affected.