Living with Autosomal recessive limb-girdle muscular dystrophy type 2E
An inherited muscle condition that weakens the hip and shoulder muscles, starting in childhood or the teen years.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2E
It usually starts in childhood or adolescence, and the muscles around the hips are affected most. Knees are often the earliest and most affected. Later the shoulder girdle and the muscles of the hands and feet can be involved. Other features can include enlarged calves, heart muscle disease, breathing problems, stiff joints, and scoliosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the hip muscles
- Waddling, wide-based walk
- Gowers sign (using hands to push up from the floor)
- Enlarged calf muscles
- Muscle disease (myopathy)
- Delayed speech and language
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 SGCB 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 SGCB 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 2e; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb; beta-sarcoglycan-related lgmd r4; beta-sarcoglycan-related limb-girdle muscular dystrophy r4; lgmd due to beta-sarcoglycan deficiency; lgmd type 2e
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2E · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2E · 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 2E.
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