Living with Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
A group of rare inherited muscle conditions caused by low levels of the muscle-repair protein dysferlin.
Understanding Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Harmful changes in the DYSF gene lead to low levels of a protein needed to repair muscle fibers. Some people have weakness and loss of muscle size in the lower legs, usually from the late teen years, which slowly spreads to the thighs and buttocks. Others have weakness in the hips and shoulders, often starting in adolescence or young adulthood. Some have only high blood levels of a muscle enzyme.
Signs & symptoms
GARD doesn't list a detailed symptom list, but the summary describes these features:
- Weakness and wasting in the calf muscles
- Weakness in the muscles around the hips and shoulders
- Thin lower arms with weaker grip
- Weakness in the front lower leg muscles
- High blood levels of a muscle enzyme
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 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 and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: Jain Foundation, Muscular Dystrophy Association
- 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
GARD lists changes in the DYSF gene. A person is affected when they receive a changed copy of the gene from both parents (autosomal recessive).
Also known as: dysferlinopathy; qualitative or quantitative defects of dysferlin
Patient organizations
- Jain FoundationNeuromuscular disease caused by qualitative or quantitative defects of dysferlin · United States
- Muscular Dystrophy AssociationNeuromuscular disease caused by qualitative or quantitative defects of dysferlin · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuromuscular disease caused by qualitative or quantitative defects of dysferlin.
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