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Start free with EleplanDNA2-related mitochondrial DNA deletion syndrome
ORPHA:352470Disease
Also called Mitochondrial DNA deletion syndrome with limb-girdle weakness · Mitochondrial DNA deletion syndrome with progressive myopathy · mtDNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with progressive myopathy
What it is
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
18- Congenital ptosis
- Decreased facial expression
- Decreased fetal movement
- Decreased mitochondrial number
- Depression
- Elevated creatine kinase after exercise
- Exertional dyspnea
- Gait disturbance
- Generalized hypotonia
- Gowers sign
- Hyperlordosis
- Mitochondrial myopathy
- Multiple joint contractures
- Muscle spasm
- Myalgia
- Myopathy
- Obstructive sleep apnea
- Slender build
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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