Living with Distal myopathy with anterior tibial onset
A genetic muscle condition that starts with weakness in the front of the lower legs and slowly spreads to other muscles.
Understanding Distal myopathy with anterior tibial onset
The condition causes muscle weakness that gets worse over time. It starts in the muscles at the front of the lower leg (anterior tibial muscles) and later affects other leg and arm muscles. Blood tests show higher creatine kinase, and a muscle biopsy shows no dysferlin protein. GARD says patients become wheelchair dependent. Symptoms usually begin from the teen years to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the front of the lower legs (tibialis muscles)
- Progressive weakness in muscles near the center of the body
- Muscle pain with exercise
- No dysferlin protein in muscle fibers
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
Muscular Dystrophy Association 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: 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 Muscular Dystrophy Association
- 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 says changes in the DYSF gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: distal anterior compartment myopathy
Patient organizations
- Muscular Dystrophy AssociationDistal myopathy with anterior tibial onset · United States
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Perspectives from people navigating life with Distal myopathy with anterior tibial onset.
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