Living with Hereditary continuous muscle fiber activity
A rare muscle condition that causes twitching and tight muscles, making movement harder.
Understanding Hereditary continuous muscle fiber activity
It can make it hard to move and walk, and motor skills may develop later. People may also have stiff legs, a spastic walk, and brisk reflexes. Fever or anesthesia can make it worse. It starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle twitching and tension
- Trouble walking
- Spastic walk (gait)
- Poor coordination (ataxia)
- Slurred speech
- Delayed motor skills
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 KCNA1 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 rare disease patient organizations for support
- 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
It is caused by changes in the KCNA1 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: continuous muscle fiber activity hereditary; continuous muscle fiber activity, hereditary; continuous muscle fibre activity hereditary; continuous muscle fibre activity, hereditary
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary continuous muscle fiber activity.
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