Living with Isaac syndrome
A rare nerve and muscle disorder with stiff, twitching, or rippling muscles and weaker reflexes.
Understanding Isaac syndrome
People have progressive muscle stiffness, muscles that keep contracting or twitching (myokymia), and reduced reflexes. It can start at any time in life. There appear to be inherited and acquired (not inherited) forms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle stiffness
- Muscle twitching (fasciculations)
- Rippling muscles (myokymia)
- Muscle spasms
- Heavy sweating
- Larger calf muscles
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 The Foundation for Peripheral Neuropathy 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
The exact cause is unknown. There appear to be hereditary and acquired (non-inherited) forms of the condition.
Also known as: acquired neuromyotonia; continuous muscle fiber activity; continuous muscle fiber activity syndrome; continuous muscle fibre activity syndrome; isaacs syndrome; isaacs-mertens syndrome
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Isaac syndrome.
Explore research for Isaac syndrome
Explore actively recruiting Isaac syndrome studies with HealthSpark.
Find actively recruiting studies for Isaac syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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