Spontaneous periodic hypothermia

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Overview

Spontaneous periodic hypothermia is a very rare condition where the body temperature drops suddenly and repeatedly without any obvious cause like cold weather or illness. 'Hypothermia' means abnormally low body temperature — usually below 95°F (35°C) — and in this condition these drops happen on their own, in episodes that come and go over time. This condition is also sometimes called 'episodic spontaneous hypothermia' or, when it occurs alongside excessive sweating, 'Shapiro syndrome' (which involves a specific brain abnormality called agenesis of the corpus callosum). During an episode, a person may feel extremely cold, shiver uncontrollably, sweat heavily, feel confused or drowsy, and have a very slow heart rate. Episodes can last from minutes to days and may happen regularly or unpredictably. The exact cause is not fully understood, but it is thought to involve problems with the part of the brain that controls body temperature, called the hypothalamus. Treatment focuses on managing symptoms during episodes and trying to prevent future ones, often using medications that affect the nervous system or hormones. There is currently no cure, but many people can be helped with careful medical management.

Also known as:

Key symptoms:

Sudden drop in body temperature (below 95°F / 35°C)Uncontrollable shiveringHeavy sweating during or around episodesConfusion or difficulty thinking clearlyExtreme drowsiness or sleepinessSlow heart rateLow blood pressureWeakness or fatiguePale or cold skinSlurred speech during episodesNauseaEpisodes that come and go repeatedly over months or years

Clinical phenotype terms (16)— hover any for plain English
HypothermiaHP:0002045Abnormal pattern of respirationHP:0002793
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Spontaneous periodic hypothermia.

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No actively recruiting trials found for Spontaneous periodic hypothermia at this time.

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No specialists are currently listed for Spontaneous periodic hypothermia.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Spontaneous periodic hypothermia.

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Community

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Caregiver Resources

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Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What is causing my body temperature to drop, and is there a structural problem in my brain that could explain this?,What tests do I need to rule out other causes of my symptoms?,What medications might help prevent or reduce my episodes, and what are the risks and benefits of each?,What should I do — and what should my family do — when an episode starts?,At what point during an episode should I go to the emergency room?,Are there any known triggers I should try to avoid?,Are there any specialists or research centers that have more experience with this condition?

Common questions about Spontaneous periodic hypothermia

What is Spontaneous periodic hypothermia?

Spontaneous periodic hypothermia is a very rare condition where the body temperature drops suddenly and repeatedly without any obvious cause like cold weather or illness. 'Hypothermia' means abnormally low body temperature — usually below 95°F (35°C) — and in this condition these drops happen on their own, in episodes that come and go over time. This condition is also sometimes called 'episodic spontaneous hypothermia' or, when it occurs alongside excessive sweating, 'Shapiro syndrome' (which involves a specific brain abnormality called agenesis of the corpus callosum). During an episode, a pe

How is Spontaneous periodic hypothermia inherited?

Spontaneous periodic hypothermia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.