What causes Hyperplexia?

The majority of HPX cases are caused by inheriting an autosomal dominant trait, which means you only need to receive one mutated gene from a parent to develop the condition. Other potential causes of HPX include an autosomal recessive pattern and a new mutation.

Can Hyperekplexia go away?

Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy). The signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down.

Is Hyperekplexia fatal?

Clinically, there are minor forms with exaggerated startle reflexes only and major forms with excessive startle reflexes, generalized stiffness at birth, and stiffness related to the startle reflex. In untreated babies, the muscle stiffening often causes respiratory impairment and apnea that may be fatal.

What causes hyper startle response?

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).

How is Hyperplexia treated?

In both infants and adults, hyperekplexia is treated most effectively with the anti-anxiety and anti-spastic drug clonazepam. Other drugs that may be used include carbamazepine, phenobarbital, phenytoin, diazepam, 5-hydroxytryptophan, piracetam, and sodium valproate.

Is Hyperlexia good or bad?

While precocious reading may seem like it can’t be a bad thing, hyperlexia can be a sign of autism or an autism-like syndrome when it is accompanied by a delay in communication abilities. 1 Early and accurate identification of hyperlexia can benefit your child.

How can I calm my startle reflex?

If your baby’s Moro reflex is keeping them from sleeping properly, try these tips: Keep your baby close to your body when laying them down. Keep them close for as long as possible as you lay them down. Gently release your baby only after their back is touching the mattress.

Is hyperekplexia common?

Hyperekplexia is a rare genetic disorder that is most often present at birth and affects both males and females. In some individuals, onset of the disorder may be delayed until adolescence or adulthood. Hyperekplexia affects approximately one in 40,000 people in the United States.

What is Coffin Lowry Syndrome?

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.

What does it mean if you are very jumpy?

Someone who’s jumpy is anxious and jittery. If you’ve ever been so nervous that you couldn’t sit still, you know how it feels to be jumpy. This informal adjective is perfect for describing the sort of anxiety you can’t hide.

What is hyperlexia mean?

Hyperlexia is when a child starts reading early and surprisingly beyond their expected ability. It’s often accompanied by an obsessive interest in letters and numbers, which develops as an infant.‌ Hyperlexia is often, but not always, part of the autism spectrum disorder (ASD).

What are the signs and symptoms of hyperekplexia?

Signs & Symptoms. There are major and minor forms of hyperekplexia. In the major form, hyperekplexia is characterized by an unusually extreme startle reaction to sudden unexpected noise, movement, or touch.

What is the definition of hyperlexia in children?

Hyperlexia is defined as exceptional reading ability at an early age without age-appropriate language and speech skills. It is a learning disability accompanied by language deficits. 1 

Where can I find information on hereditary hyperekplexia?

Genetics Home Reference (GHR) contains information on Hereditary hyperekplexia. This website is maintained by the National Library of Medicine. The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition.

How is hyperekplexia linked to sudden infant death?

The link to some cases of Sudden Infant Death remains controversial. Hyperekplexia is known to be caused by a variety of genes, encoding both pre- and postsynaptic proteins. The symptoms displayed, as well as the forms of heritance, vary based on which gene is affected.