Living with Multiple mitochondrial dysfunctions syndrome 3
A rare condition of the nervous system and metabolism with delayed development, low muscle tone, and feeding trouble.
Understanding Multiple mitochondrial dysfunctions syndrome 3
Symptoms start early, often with delayed development or loss of skills, and feeding difficulties. Severity varies a lot. Some people have milder symptoms with a later start, slow changes, and some improvement over time. Others have signs from birth. Other features include low muscle tone, vision loss, breathing problems, seizures, and intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties
- Low muscle tone (hypotonia)
- Generalized muscle weakness
- Smaller than usual head (microcephaly)
- Slow growth before birth
- Joint stiffness from birth (arthrogryposis)
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 IBA57 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 IBA57 gene. It is listed as autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fatal multiple mitochondrial dysfunctions syndrome caused by mutation in iba57; iba57 (iron-sulfur cluster assembly factor iba57) deficiency; iba57 deficiency; iba57 fatal multiple mitochondrial dysfunctions syndrome; mmds3; mmds3 - multiple mitochondrial dysfunctions syndrome type 3
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 3.
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