Amish lethal microcephaly
Amish Lethal Microcephaly is a rare, genetic, metabolic disorder characterized by severe microcephaly, developmental delay, intellectual disability, growth retardation, seizures, and early death. It is prevalent in the Amish community due to the founder effect and genetic drift.
Pronunciation
Amish Lethal Microcephaly is pronounced as "A-mish Lee-thal My-cro-ceph-a-ly".
Etymology
The term "Amish Lethal Microcephaly" is derived from the Amish community where the disorder is most commonly found, "lethal" indicating the severity of the condition, and "microcephaly" from the Greek words "micros" meaning small and "kephale" meaning head, referring to the primary physical characteristic of the disorder.
Symptoms
The primary symptom of Amish Lethal Microcephaly is a significantly smaller head size, or microcephaly. Other symptoms include developmental delay, intellectual disability, growth retardation, seizures, and early death.
Causes
Amish Lethal Microcephaly is caused by mutations in the SARS2 gene. This gene provides instructions for making an enzyme that is found in mitochondria, the energy-producing centers within cells.
Diagnosis
Diagnosis of Amish Lethal Microcephaly is based on clinical examination, imaging studies such as MRI, and confirmed by genetic testing.
Treatment
There is currently no cure for Amish Lethal Microcephaly. Treatment is supportive and symptomatic, focusing on managing the individual symptoms and improving the quality of life.
Prognosis
The prognosis for individuals with Amish Lethal Microcephaly is poor, with most affected individuals not surviving past infancy.
See Also
External links
- Medical encyclopedia article on Amish lethal microcephaly
- Wikipedia's article - Amish lethal microcephaly
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