Living with Mitochondrial DNA deletion syndrome with progressive myopathy
A rare genetic condition that causes muscle weakness and drooping eyelids with limited eye movement, starting in infancy or later.
Understanding Mitochondrial DNA deletion syndrome with progressive myopathy
It can begin late in life with muscle disease, limited eye movement (progressive external ophthalmoplegia), and muscle weakness, mostly near the hips and shoulders. It can also begin early, with less fetal movement before birth, drooping eyelids from birth, low muscle tone, and sometimes stiff joints. A muscle biopsy shows reduced mitochondrial DNA with multiple deletions.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle disease (myopathy)
- Weakness near the hips and shoulders (limb-girdle weakness)
- Drooping upper eyelids (ptosis)
- Limited eye movement
- Low muscle tone (hypotonia)
- Stiff joints (contractures)
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 DNA2 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
United Mitochondrial Disease Foundation and MitoAction 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: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease 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
This condition is caused by changes in the DNA2 gene. GARD lists autosomal dominant and mitochondrial inheritance.
Also known as: dna2-related mitochondrial dna deletion syndrome; mitochondrial dna deletion syndrome with limb-girdle weakness; mtdna deletion syndrome with limb-girdle weakness; mtdna deletion syndrome with progressive myopathy; progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6; progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mitochondrial DNA deletion syndrome with progressive myopathy.
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