Living with Amish lethal microcephaly
A disorder in which babies are born with a very small head and an underdeveloped brain, along with seizures and irritability.
Understanding Amish lethal microcephaly
Babies have a sloping forehead and a very small head, and may have a small lower jaw and an enlarged liver. They may have seizures and trouble keeping their body temperature steady. Many become very irritable in the second or third month. They typically feed well but don't develop skills such as purposeful movement or tracking faces and sounds. Viral illness can bring on acid buildup in the blood.
Signs & symptoms
Symptoms vary from baby to baby. GARD lists these among the most common:
- Very small head (microcephaly)
- Missing or underdeveloped corpus callosum
- Smooth brain with few folds (lissencephaly)
- Irritability
- Small lower jaw (micrognathia)
- Stiff muscles in the arms or legs
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 SLC25A19 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 SLC25A19 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: amish microcephaly; mcpha; microcephaly, amish type; thiamine metabolism dysfunction syndrome 3 (microcephaly type)
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Amish lethal microcephaly.
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