Living with Mitochondrial DNA depletion syndrome, myopathic form
An inherited muscle condition (TK2-MDS) that causes muscle weakness getting worse over time, usually starting in early childhood.
Understanding Mitochondrial DNA depletion syndrome, myopathic form
Symptoms typically begin in early childhood. Development is usually normal early on, but as weakness grows, people lose motor skills such as standing, walking, eating, and talking. Some have weak eye muscles that lead to droopy eyelids. Most often only the muscles are affected, though the liver may be enlarged, and seizures and hearing loss can occur. Intelligence is usually not affected. Breathing muscles can weaken over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness that gets worse over time (myopathy)
- Loss of skills already gained (developmental regression)
- Difficulty standing and walking
- Weak breathing muscles
- Low muscle tone (hypotonia)
- Feeding difficulties in infancy
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TK2 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); Digestive system specialists (gastroenterologists); 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 TK2 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mitochondrial dna depletion myopathy, tk2-related; mitochondrial dna depletion syndrome 2 (myopathic type); mitochondrial dna depletion syndrome 2 myopathic type; mitochondrial dna depletion syndrome type 2; mtdna depletion syndrome, myopathic form; mtdps2
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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Perspectives from people navigating life with Mitochondrial DNA depletion syndrome, myopathic form.
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