What is hyperekplexia?

hyperekplexia is a genetic condition that usually occurs in infants and tends to cause an exaggerated response to loud sounds or other unexpected external stimuli. This health problem is also known as Kok disease, solid child syndrome and exaggerated frightened reflex. In most cases, patients with this disorder are very scared, their muscle tone increases and their bodies are unusually rigid. This unusual rigidity can cause some children to stop breathing and eventually lead to death if the patient continues to breathe fast enough. Some deaths that are credited with sudden infant death syndrome may be caused by hyperekplexia. In some cases, the child may develop the muscles of the neck and limb muscles after the child is tapped on the nose. Children with this genetic disorder may have epileptic seizures in rare installation. Patients who have epileptic seizures with this condition usually experience seizures throughout their lives. Individuals with hyperekplexia have no čAnthilate the dislike of the overcrowded environment.

hyperekplexia is caused by abnormality in the patient's genes usually related to mutations that develop in the gene that affects glycine production. Glycine is a cerebral chemical and neurotransmitter that transmits nerve signals in the brain and the central nervous system. Mutations can also affect the ability of glycine receptors to respond to nerve signals transmitted by glycine. Patients may inherit mutations in a gene that causes hyperekplexia, or may develop a genetic mutation without a family history of disorder, usually due to external causes such as brain trauma. Some parents pass the defective gene to their offspring that causes this disease, even if none of the parents has signs.

Doctors can treat patients with clonazepam hyperekplexia, prescription drug that generally improves gamma-aminobutyre (GABA), another neurotransmitter. AnotherKY can also be used to treat this condition as recommended by the doctor. Some doctors use a technique called Vigevano Maneuver to reduce symptoms during a frightened reaction. The doctor usually bends the patient's head and limbs towards the trunk with this maneuver.