Living with Andersen Tawil syndrome
A condition with episodes of muscle weakness, heart rhythm changes, and differences in how the body develops.
Understanding Andersen Tawil syndrome
Periodic paralysis begins early in life, and episodes last from hours to days. They may follow exercise or long rest, but often have no clear trigger. Muscle strength usually returns to normal between episodes, though mild weakness may eventually become permanent. The most common heart changes are ventricular arrhythmia and long QT syndrome, which can cause palpitations or fainting.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Episodes of muscle weakness (periodic paralysis)
- Muscle weakness
- Heart rhythm changes
- Short height
- Small lower jaw (micrognathia)
- Tooth differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in KCNJ2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the KCNJ2 gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: andersen cardiodysrhythmic periodic paralysis; andersen syndrome; andersen-tawil syndrome; long qt syndrome 7; long qt syndrome type 7; lqt7
Patient organizations
- Muscular Dystrophy AssociationAndersen Tawil syndrome · United States
- Periodic Paralysis AssociationAndersen Tawil syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Andersen Tawil syndrome.
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