Excessive startle (hyperekplexia)

Overview

Babies may stiffen strongly when startled or touched, which can affect breathing.

Startle and stiffness often lessen with age.

Symptoms

Common signs:

• Exaggerated startle

Less common

• Falls

Look up a symptom: Falling or nearly falling

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Who is more likely to get it

• Children of a parent with it: Often inherited

Possible complications

• Falls and fall risk: From stiff falls
• Sudden infant death syndrome (SIDS): Rare, from breathing spasms

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Gene test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Learn the Vigevano maneuver (bending head and legs toward the chest) for stiff spells

Prevention

To lower your risk or prevent problems:

• Genetic counseling

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a neurologist (brain and nerve doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Newborns: Stiffness may appear at birth.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Medicine helps many.

Medicine helps; it often improves with age.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• How do we help during a stiff spell?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Excessive startle (hyperekplexia)