Living with Rippling muscle disease 2
A rare inherited muscle condition where tapped muscles twitch, bunch up, or ripple, with cramps and stiffness.
Understanding Rippling muscle disease 2
Symptoms usually start in late childhood or the teen years, but can start at other ages. Muscles may react to tapping with quick contractions, lumps, or visible rippling under the skin. Fatigue, cramps, and stiffness are common, especially after hard exercise or in the cold. Some people have enlarged muscles in places and an unusual way of walking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in upper arm and thigh muscles
- Enlarged calf muscles
- Using hands to push up from the floor (Gowers sign)
- Exercise-related cramps
- Exercise-related muscle pain and stiffness
- Rippling or bunching of muscles when tapped
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 CAV3 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
- 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 CAV3 gene. It is autosomal dominant, so one changed copy of the gene can be enough. CAV3 changes can also cause other muscle and heart conditions in the same family.
Also known as: autosomal dominant limb-girdle muscular dystrophy caused by mutation in cav3; cav3 rippling muscle disease; cav3-related rippling muscle disease; limb-girdle muscular dystrophy, type 1c; rippling muscle disease caused by mutation in cav3; rippling muscle disease type 2
Patient organizations
- Muscular Dystrophy AssociationRippling muscle disease 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Rippling muscle disease 2.
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