Hyperecplexia, also known as Kok’s disease or stiff baby syndrome, is a genetic condition that causes an exaggerated reaction to loud noises or unexpected stimuli. It can cause muscle stiffness, breathing difficulties, and seizures, and may be a cause of sudden infant death syndrome. Treatment options include medication and the Vigevano maneuver.
Hyperecplexia is a genetic condition that typically occurs in newborns and tends to cause an exaggerated reaction to loud noises or other unexpected external stimuli. This medical problem is also known as Kok’s disease, stiff baby syndrome, and exaggerated startle reflex. In most cases, patients with this disorder become very frightened, their muscle tone increases, and their bodies become abnormally stiff. This unusual stiffness can cause some children to stop breathing and can ultimately result in death if a patient does not regain breathing quickly enough.
Muscle twitching often occurs in children with hypereclexia as they fall asleep, and a child’s legs and arms may move abnormally during sleep. Some deaths attributed to sudden infant death syndrome (SIDS) may be caused by hyperecplexia. In some cases, a baby may develop spasms of the muscles in the neck and limbs after the baby is tapped on the nose. Children with this genetic disorder may have seizures in rare cases.
Most patients with hypereclexia tend to have diminished symptoms by the age of 1 year. In cases where older patients still feel stiffness due to this disease, they may fall down due to sudden stiffness and keep jerking easily due to unexpected external stimuli. Patients who have seizures with this condition typically continue to experience seizures throughout their lives. Individuals with hypereclexia often have an aversion to crowded environments.
Hypereclexia is caused by an abnormality in a patient’s genes usually related to mutations developing in a gene that affects glycine production. Glycine is a brain chemical and neurotransmitter that transmits nerve signals throughout the brain and central nervous system. The mutations can also affect the ability of glycine receptors to respond to nerve signals transmitted with glycine. Patients can inherit a mutation in a gene that causes hypereclexia, or they can develop a gene mutation without a family history of the disorder, usually due to an external cause such as a brain injury. Some parents pass on a defective gene to their offspring that causes this disease even when neither parent has signs of it.
Doctors can treat patients with hypereclexia with clonazepam, a prescription drug that generally improves the function of gamma-aminobutyric acid (GABA), another neurotransmitter. Other medications may also be used to treat this condition as recommended by a doctor. Some doctors use a technique called the Vigevano maneuver to reduce symptoms during a startle response. A clinician typically flexes a patient’s head and limbs toward the trunk with this maneuver.
Protect your devices with Threat Protection by NordVPN
