Living with Autosomal recessive limb-girdle muscular dystrophy type 2X
A rare inherited muscle condition with heart rhythm problems and slowly worsening weakness, starting in adulthood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2X
It has a heart rhythm problem called atrioventricular block, which can cause repeated fainting. Weakness and wasting of muscles near the center of the limbs slowly get worse, with onset in adulthood. Blood tests show high creatine kinase.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fainting spells (syncope)
- Weakness in limb-girdle muscles
- Second-degree heart block (atrioventricular block)
- Slow heart rate (sinus bradycardia)
- Weakness in the arm and leg muscles
- Muscle fiber damage seen on biopsy
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 POPDC1 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
The Speak 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: 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 The Speak Foundation
- 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 POPDC1 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, cardiac arrhythmia syndrome; autosomal recessive limb-girdle muscular dystrophy caused by mutation in bves; autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome; blood vessel epicardial substance related limb girdle muscular dystrophy; bves (blood vessel epicardial substance) related limb girdle muscular dystrophy; bves autosomal recessive limb-girdle muscular dystrophy
Patient organizations
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2X · United States
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Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2X.
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