Living with Myotonia permanens
A very rare, persistent and more severe form of an inherited muscle stiffness condition worsened by potassium.
Understanding Myotonia permanens
Myotonia means muscles that are slow to relax after use. This form lasts and is more severe than other forms. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness (myotonia)
- Increased muscle tone
- Muscle spasms
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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Periodic Paralysis Association
- 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
GARD lists changes in the SCN4A gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Patient organizations
- Periodic Paralysis AssociationMyotonia permanens · United States
You are more than your diagnosis
Perspectives from people navigating life with Myotonia permanens.
Explore research for Myotonia permanens
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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