Can adults have hyperekplexia?

Hyperekplexia is a rare hereditary, neurological disorder that may affect infants as newborns (neonatal) or prior to birth (in utero). It may also affect children and adults. Individuals with this disorder have an excessive startle reaction (eye blinking or body spasms) to sudden unexpected noise, movement, or touch.

What causes exaggerated startle reflex in adults?

The exaggerated startle reflex in HPX is probably caused by brainstem pathology. This is supported by the concentration of glycine receptors in the brainstem and spinal cord (Rousseau et al., 2008). In addition, symptomatic excessive startling is usually caused by brainstem damage (Bakker et al., 2006).

What is adult hyperekplexia?

Hyperekplexia, otherwise known as familial startle disease, is an autosomal-dominant disorder characterized by an exaggerated startle reaction in response to sudden, unexpected auditory or tactile stimuli.

What is the startle reflex in adults?

The startle reflex is a brainstem reflectory reaction (reflex) that serves to protect vulnerable parts, such as the back of the neck (whole-body startle) and the eyes (eyeblink) and facilitates escape from sudden stimuli.

Is hyperekplexia treatable?

Treatment Fortunately, hyperekplexia is a highly treatable disease as opposed to the majority of neurogenetic disorders. Clonazepam is the drug of choice that dramatically diminishes exaggerated startle response and consequently reduces morbidities and mortalities associated with the disease.

Is Hypertonia fatal?

Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.

Is hyperekplexia fatal?

Hereditary hyperekplexia manifests shortly after birth with violent jerking to noise and touch and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high-frequency trembling. In newborns, the muscle stiffening often causes respiratory impairment and apnea that may be fatal.

What causes hyperekplexia?

Most cases of hereditary hyperekplexia are caused by mutations in the GLRA1 gene. The GLRA1 gene provides instructions for making one part, the alpha (α)1 subunit, of the glycine receptor protein. When this protein attaches (binds) to glycine, signaling between cells is stopped.

What causes a person to startle easily?

These symptoms can be observed in conditions such as anxiety disorder and stress reactions. Being easily startled would also be accompanied by other signs of stress and anxiety.

Is hypotonia a neurological disorder?

It can be caused by a number of underlying problems, which can either be neurological or non-neurological. Neurological conditions are those that affect the nerves and nervous system. Hypotonia is most commonly linked to neurological control of muscle tone.

What disease causes loss of motor function?

Some of the most common MNDs include: Amyotrophic lateral sclerosis (ALS), also called classical motor neuron disease, affects both the upper and lower motor neurons. It causes rapid loss of muscle control and eventual paralysis. Many doctors use the term motor neuron disease and ALS interchangeably.

Is there a cure to hyperekplexia?

Currently, there is no cure for the disorder. The medications that might be used include anti-anxiety and anti-spastic drugs such as clonazepam and diazepam, as well as carbamazepine, phenobarbital, and others.