Living with Rippling muscle disease 1
An inherited muscle condition in which tapping or stretching a muscle triggers contractions that make visible ripples.
Understanding Rippling muscle disease 1
In this condition, touching or stretching a muscle sets off contractions that spread to nearby muscle fibers. This causes visible ripples across the muscle.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes visible ripples moving over the muscle.
- Contractions triggered by touching or stretching a muscle
- Visible ripples moving over the muscle
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD says the change that causes RMD1 maps to chromosome 1q41. It is autosomal dominant, so one changed copy of a gene can be enough.
Also known as: rippling muscle disease-1; rmd1
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 Rippling muscle disease 1.
Explore research for Rippling muscle disease 1
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