Living with Autosomal recessive limb-girdle muscular dystrophy type 2D
An inherited muscle condition with slowly worsening weakness in the shoulders and hips, starting in childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2D
It starts in childhood and slowly worsens. It can make walking harder and cause shoulder blades to stick out, enlarged calves, and tight Achilles tendons that lead to toe walking. Heart and breathing involvement is rare.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in upper arm and upper leg muscles
- Frequent falls
- Trouble climbing stairs
- Winged shoulder blades (scapular winging)
- Toe walking and tight Achilles tendons
- Enlarged 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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in SGCA 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, The Speak Foundation and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Muscular Dystrophy Association, The Speak Foundation, Children's Cardiomyopathy 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 Muscular Dystrophy Association 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 SGCA gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: adhalinopathy, primary; alpha-sarcoglycan-related lgmd r3; alpha-sarcoglycan-related limb-girdle muscular dystrophy r3; alpha-sarcoglycanopathy lgmd2d (limb girdle muscular dystrophy type 2d); autosomal recessive limb girdle muscular dystrophy type 2d; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2D · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2D · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2D.
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