Living with Mitochondrial complex II deficiency, nuclear type 1
A mitochondrial disease in which cells make less energy, with symptoms ranging from serious infant problems to muscle disease in adulthood.
Understanding Mitochondrial complex II deficiency, nuclear type 1
Mitochondria make more than 90% of the energy the body needs. Symptoms can vary greatly, from serious symptoms in infancy to muscle disease that begins in adulthood. Carriers of the genetic changes may have a higher risk of certain cancers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Generalized muscle weakness
- Tiring easily
- Loss of skills already gained (developmental regression)
- Muscle stiffness (spasticity)
- Muscle jerk-type seizures (myoclonic seizures)
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 SDHA 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 SDHA gene. Complex II deficiency can also be caused by changes in the SDHB, SDHD, or SDHAF1 genes. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: isolated mitochondrial respiratory chain complex ii deficiency; isolated succinate dehydrogenase deficiency; isolated succinate-coenzyme q reductase deficiency; isolated succinate-coq reductase deficiency; isolated succinate-ubiquinone reductase deficiency; mitochondrial complex ii deficiency
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 complex II deficiency, nuclear type 1.
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