hyperekpleksian

Hyperekplexia is a rare neurological disorder characterized by an exaggerated startle reflex. The condition, also known as rigid infant syndrome or stiff-baby syndrome, is typically present from birth. Individuals with hyperekplexia often experience sudden, involuntary muscle stiffening or spasms in response to unexpected stimuli such as loud noises, sudden movements, or touch. These episodes can be triggered by anything from a slammed door to a sudden light.

The severity of hyperekplexia varies widely among individuals. Some may experience only mild, brief stiffening, while others can have severe, prolonged spasms that lead to falls or difficulty breathing. In infants, this can manifest as a generalized body stiffness that makes it difficult to be handled or breastfed. Over time, some individuals may develop a tendency to fall when startled, especially during childhood.

The underlying cause of hyperekplexia is often genetic, typically involving mutations in genes that play a role in inhibitory neurotransmission, particularly involving the neurotransmitter glycine. In some cases, the cause may be acquired due to brain injury or certain medications. Diagnosis usually involves a neurological examination, genetic testing, and sometimes electrophysiological studies. Treatment strategies focus on managing symptoms and may include medications like benzodiazepines, which can help reduce the severity and frequency of spasms. Physical therapy can also be beneficial for managing motor difficulties and preventing injuries.