Living with Multiple mitochondrial dysfunctions syndrome 5
A rare genetic condition that affects the brain and nerves of infants and young children and changes over time.
Understanding Multiple mitochondrial dysfunctions syndrome 5
MMDS5 affects infants and young children and gets worse over time. It can cause seizures, muscle stiffness, and trouble controlling muscles. Many people have problems with the protective coating of nerves (myelin), called leukodystrophy. Blood levels of lactic acid are often high.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Muscle stiffness (spasticity)
- Delayed development
- Feeding difficulties
- Overactive reflexes (hyperreflexia)
- Crossed eyes (strabismus)
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 ISCA1 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
MMDS5 is caused by changes in the ISCA1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: isca1 (iron-sulfur cluster assembly 1) deficiency; isca1 deficiency; mmds5; mmds5 - multiple mitochondrial dysfunctions syndrome type 5; multiple mitochondrial dysfunctions syndrome type 5
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 Multiple mitochondrial dysfunctions syndrome 5.
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