Living with Autosomal recessive limb-girdle muscular dystrophy type 2A
The most common form of limb-girdle muscular dystrophy, with slowly worsening weakness in hip and shoulder muscles.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2A
Muscle weakness gets worse over time and affects both sides equally. It comes without heart involvement or intellectual disability. It accounts for about 30 percent of limb-girdle muscular dystrophy cases and can begin from childhood to adulthood. Some people have no symptoms, only high levels of creatine kinase in the blood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in upper arm and upper leg muscles
- Wasting of hip and shoulder muscles
- Winged shoulder blades (scapular winging)
- Tight joints (contractures) at the elbows or ankles
- Toe walking
- 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 and genetic specialists.
- 3Consider genetic testing
Changes in CAPN3 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 and The Speak Foundation 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, The Speak Foundation
- 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 Coalition to Cure Calpain 3 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
It is caused by changes in the CAPN3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive limb girdle muscular dystrophy type 2a; autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3; calpain-3 deficiency limb girdle muscular dystrophy type 2a; calpain-3-related lgmd r1; calpain-3-related limb-girdle muscular dystrophy r1; calpainopathy
Patient organizations
- Coalition to Cure Calpain 3Autosomal recessive limb-girdle muscular dystrophy type 2A · United States
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2A · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2A · United States
- Beyond Labels & Limitations, Inc.Autosomal recessive limb-girdle muscular dystrophy type 2A · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2A.
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