Living with Central core myopathy
A muscle condition that causes weakness from barely noticeable to very significant, often starting in childhood.
Understanding Central core myopathy
Weakness ranges from barely noticeable to very severe, even within one family. Most people have mild weakness that does not worsen over time, mainly in the shoulders, upper legs, and hips. In infants, weakness can delay motor skills. It usually appears in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness near the center of the body
- Low muscle tone (hypotonia)
- Easily tired (fatigue)
- Hip dislocation present from birth
- Clubfeet and flat feet
- Curved spine (kyphoscoliosis)
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 RYR1 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
RYR-1 Foundation and 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: RYR-1 Foundation, 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 RYR-1 Foundation 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
Changes in the RYR1 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: central core disease; cmyo1a; congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia; myopathy, central fibrillar
Patient organizations
- RYR-1 FoundationCentral core myopathy · United States
- Malignant Hyperthermia Association of the United StatesCentral core myopathy · United States
- Muscular Dystrophy AssociationCentral core myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Central core myopathy.
Explore research for Central core myopathy
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