Living with Potassium-aggravated myotonia
An inherited muscle condition in which muscles tense and stiffen, sometimes after exercise or eating foods high in potassium.
Understanding Potassium-aggravated myotonia
Beginning in childhood or adolescence, muscles stay tensed and cannot relax (myotonia). Stiffness gets worse after exercise and may be triggered by foods high in potassium, such as bananas and potatoes. It ranges from mild stiffness to severe, disabling disease with frequent attacks. Unlike some other forms of myotonia, it doesn't come with episodes of muscle weakness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness that does not relax (myotonia)
- Stiff grip
- Muscle aches
- Stiffness after exercise
- Larger muscles
- Breathing pauses in infancy
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 and genetic specialists.
- 3Consider genetic testing
Changes in SCN4A 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)
- 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 SCN4A gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: k-aggravated myotonia; k+-aggravated myotonia; myotonia congenita, acetazolamide-responsive; myotonia congenita, atypical; myotonia congenita, atypical, acetazolamide-responsive; pam
Patient organizations
- Muscular Dystrophy AssociationPotassium-aggravated myotonia · United States
- Periodic Paralysis AssociationPotassium-aggravated myotonia · United States
You are more than your diagnosis
Perspectives from people navigating life with Potassium-aggravated myotonia.
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