Living with Autosomal recessive limb-girdle muscular dystrophy type 2F
An inherited muscle condition that affects the shoulder and pelvic muscles, starting in childhood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2F
It starts in childhood. Symptoms vary and can include muscle weakness and wasting, breathing difficulty, and heart problems. Some people have enlarged calf muscles, cramps, and high creatine kinase levels in the blood. People typically have normal development and thinking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle wasting in the shoulders and arms
- Wasting of the thigh muscles
- Winged shoulder blades (scapular winging)
- Shuffling walk
- Enlarged calf muscles (from summary)
- Muscle cramps (from summary)
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 SGCD 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 SGCD 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 2f; autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd; delta-sarcoglycan-related lgmd r6; delta-sarcoglycan-related limb-girdle muscular dystrophy r6; lgmd due to delta-sarcoglycan deficiency; lgmd type 2f
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2F · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2F · 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 2F.
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