Overview
Genetic periodic paralysis is a group of rare inherited conditions that cause episodes of muscle weakness or complete paralysis. These episodes come and go, which is why the condition is called 'periodic.' The underlying problem involves ion channels in muscle cells — tiny gateways that control the flow of charged particles like potassium, sodium, or calcium in and out of cells. When these channels don't work properly due to a genetic mutation, muscles can temporarily lose their ability to contract normally. There are several types of genetic periodic paralysis, including hypokalemic periodic paralysis (associated with low potassium levels during attacks), hyperkalemic periodic paralysis (associated with high potassium levels), and Andersen-Tawil syndrome (which also affects the heart). Attacks can be triggered by factors such as heavy meals rich in carbohydrates, rest after exercise, stress, cold temperatures, or certain medications. Episodes can last from minutes to days. Treatment focuses on preventing attacks and managing symptoms. This may include dietary changes, avoiding known triggers, and medications such as acetazolamide or dichlorphenamide (Keveyis), which is FDA-approved for primary periodic paralysis. Potassium supplements may be used during or between attacks depending on the type. While there is no cure, many patients can significantly reduce the frequency and severity of attacks with proper management. Over time, some patients may develop a fixed muscle weakness that does not fully resolve between episodes, known as a progressive myopathy.
Key symptoms:
Episodes of muscle weakness or paralysisWeakness that comes and goes unpredictablyDifficulty moving arms or legs during an attackMuscle stiffness or crampingWeakness triggered by heavy meals or carbohydratesWeakness after rest following exerciseWeakness triggered by cold temperaturesWeakness triggered by emotional stressPermanent muscle weakness over timeFatigue between episodesDifficulty breathing during severe attacksHeart rhythm problems (in some types like Andersen-Tawil syndrome)Muscle pain during or after attacksDifficulty standing or walking during episodes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Genetic periodic paralysis.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Genetic periodic paralysis.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of periodic paralysis do I have, and which gene is affected?,What are my personal triggers, and how can I best avoid them?,Should I take medication to prevent attacks, and what are the side effects?,Do I need cardiac monitoring, and how often?,What should I do during an attack — when should I go to the emergency room?,Am I at risk for developing permanent muscle weakness, and how can I reduce that risk?,Should my family members be tested for this condition?
Common questions about Genetic periodic paralysis
What is Genetic periodic paralysis?
Genetic periodic paralysis is a group of rare inherited conditions that cause episodes of muscle weakness or complete paralysis. These episodes come and go, which is why the condition is called 'periodic.' The underlying problem involves ion channels in muscle cells — tiny gateways that control the flow of charged particles like potassium, sodium, or calcium in and out of cells. When these channels don't work properly due to a genetic mutation, muscles can temporarily lose their ability to contract normally. There are several types of genetic periodic paralysis, including hypokalemic periodic
How is Genetic periodic paralysis inherited?
Genetic periodic paralysis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Genetic periodic paralysis?
6 specialists and care centers treating Genetic periodic paralysis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.