Living with FASTKD2-related infantile mitochondrial encephalomyopathy
A rare genetic condition affecting energy-making parts of cells (mitochondria), causing delays, seizures and weakness on one side, starting in infancy.
Understanding FASTKD2-related infantile mitochondrial encephalomyopathy
It starts in infancy with developmental delay, slowly worsening weakness on one side of the body (hemiplegia), and hard-to-control seizures. Brain scans show shrinkage on one side. Other features include damage to the optic nerve and mildly raised lactic acid levels.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Developmental delay
- Slowly worsening weakness on one side
- Seizures that are hard to control
- Shrinking on one side of the brain
- Optic nerve damage (optic atrophy)
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 FASTKD2 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
Changes in the FASTKD2 gene cause it. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: fast kinase domains 2-related infantile mitochondrial encephalomyopathy
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 FASTKD2-related infantile mitochondrial encephalomyopathy.
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