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Zpráva o onemocněních · Neurological

ATP1A2-Related Fetal Akinesia with Polymicrogyria

Whole genome sequencing reads the ATP1A2 gene for inherited changes in both copies that cause FARIMPD, a very severe condition in which a baby moves little before birth and has a small head.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A very severe condition, also called FARIMPD, in which a baby moves little before birth, with a small head and abnormal brain folding. It is caused by changes in both copies of the ATP1A2 gene.

FARIMPD is a very severe condition in which a baby moves little before birth. Joint contractures (arthrogryposis) and a small head are typical, along with polymicrogyria, which means many small, abnormal folds on the surface of the brain. Care focuses on comfort and breathing support, and early death before or soon after birth has been reported.

The condition is caused by changes in both copies of ATP1A2, which makes part of the sodium-potassium pump in brain and muscle cells. The changes reported remove the gene's function. A change in one copy of ATP1A2 causes a different condition, familial hemiplegic migraine.

Parents are usually carriers, and each future pregnancy has a risk of being affected. Genetic counselling is important, and prenatal or preimplantation testing can be discussed. Decisions about care are made together with the family.

Onemocnění, které analyzujeme

Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria and Dysmorphic Facies

Autozomálně recesivní

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.

Příznaky a projevy

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.

Co se diagnózou změní

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.

Analyzované geny

MONDO:0859204OMIM 619602MedGen 1794225Zdroje: [1][3][2]

Proč sekvenování celého genomu

FARIMPD is inherited in a recessive way, so the family's ATP1A2 changes matter for advice about future pregnancies. Whole genome sequencing reads the ATP1A2 gene.

Future pregnancies can be discussed

Parents are usually carriers, and each future pregnancy carries a risk of being affected. Once the family's changes are known, prenatal and preimplantation testing can be discussed.

Care focuses on comfort

Care is supportive and centred on comfort and breathing, with decisions made together with the family. The condition can be very severe, and early death before or soon after birth has been reported.

Reference

  1. Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z et al., 2021. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain : a journal of neurology
  2. da Rosa GK, Ribeiro LR, Bariviera JL, Oliveira MS, 2026. Genetic Variants of Na+,K+-ATPase Associated With Neurological Disorders: A Systematic Review. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  3. Isaksen TJ, Lykke-Hartmann K, 2016. Insights into the Pathology of the α2-Na(+)/K(+)-ATPase in Neurological Disorders; Lessons from Animal Models. Frontiers in physiology

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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