Living with Severe X-linked mitochondrial encephalomyopathy
An extremely rare genetic condition of the cell's energy systems that affects the brain, nerves and muscles.
Understanding Severe X-linked mitochondrial encephalomyopathy
Mitochondria are the parts of cells that make energy. In this condition, problems with them lead to delayed development, low muscle tone, weak and wasting muscles, and absent reflexes. Children may lose skills they had learned, and some have breathing or nerve problems. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Low muscle tone (hypotonia)
- Muscle weakness and wasting
- Absent reflexes
- Breathing difficulties
- Loss of skills already learned
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 AIFM1 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
GARD lists changes in the AIFM1 gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: combined oxidative phosphorylation deficiency 6, x-linked recessive; combined oxidative phosphorylation deficiency type 6; encephalomyopathy, mitochondrial, x-linked; mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; mitochondrial encephalomyopathy due to coxpd6
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 Severe X-linked mitochondrial encephalomyopathy.
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