Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria and Dysmorphic Facies
Autosomal recessive
FARIMPD is caused by changes in both copies of ATP1A2, which makes part of the sodium-potassium pump in brain and muscle cells; the reported changes remove the gene's function. A change in one copy of ATP1A2 causes a different condition, familial hemiplegic migraine.
Signs and symptoms
Reduced movement before birth, joint contractures (arthrogryposis) and a small head are typical, together with polymicrogyria (many small, abnormal brain folds). Early death before or soon after birth has been reported.
What a diagnosis changes
Care is supportive and focused on comfort and breathing support, with decisions made together with the family. Genetic counselling is important; parents are usually carriers, each future pregnancy has a risk of being affected, and prenatal or preimplantation testing can be discussed.
Genes analysed
