Living with Autosomal dominant limb-girdle muscular dystrophy type 1F
A rare inherited muscle condition with slowly worsening weakness in the shoulders and hips, starting at a variety of ages.
Understanding Autosomal dominant limb-girdle muscular dystrophy type 1F
The hip muscles, especially the iliopsoas, are more affected. Other features can include enlarged calves, trouble swallowing, long slender fingers, and weakness in muscles farther from the center of the body. Walking changes, tiredness, and muscle pain can also occur. Heart conduction problems are typically not seen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the hip muscles
- Weak shoulder muscles
- Trouble climbing stairs
- Trouble swallowing
- Weakness in the hands and feet
- Breathing muscle weakness in some people
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 TNPO3 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 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: 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 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
GARD says changes in the TNPO3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant limb girdle muscular dystrophy type 1f; lgmd type 1f; lgmd1f; lgmdd2; limb-girdle muscular dystrophy type 1f; limb-girdle muscular dystrophy, type 1f
Patient organizations
- Muscular Dystrophy AssociationAutosomal dominant limb-girdle muscular dystrophy type 1F · United States
- The Speak FoundationAutosomal dominant limb-girdle muscular dystrophy type 1F · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant limb-girdle muscular dystrophy type 1F.
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