Living with Autosomal recessive limb-girdle muscular dystrophy type 2B
An inherited muscle condition with slowly worsening weakness in the hips and shoulders, starting in the teens or adulthood.
Understanding Autosomal recessive limb-girdle muscular dystrophy type 2B
It slowly causes weakness and wasting of the muscles of the pelvis and shoulder girdle. Onset is usually in the teen years or adulthood. Doctors suspect it from signs and symptoms, and the diagnosis can be confirmed by a muscle biopsy and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the leg muscles
- Weakness in the upper leg muscles
- Wasting of pelvic and shoulder muscles
- Trouble running (less common)
- Trouble climbing stairs (less common)
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 DYSF 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
Jain Foundation, 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: Jain Foundation, 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 Jain Foundation 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 DYSF 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 2b; autosomal recessive limb-girdle muscular dystrophy caused by mutation in dysf; dysf autosomal recessive limb-girdle muscular dystrophy; dysferlin-related lgmd r2; dysferlin-related limb-girdle muscular dystrophy r2; lgmd due to dysferlin deficiency
Patient organizations
- Jain FoundationAutosomal recessive limb-girdle muscular dystrophy type 2B · United States
- Muscular Dystrophy AssociationAutosomal recessive limb-girdle muscular dystrophy type 2B · United States
- The Speak FoundationAutosomal recessive limb-girdle muscular dystrophy type 2B · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive limb-girdle muscular dystrophy type 2B.
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