Faamaʻi Tay-Sachs

O le faʻamaʻi Tay-Sachs o se faʻamaʻi lamatia o le neula na pasi atu i aiga.

O le faʻamaʻi Tay-Sachs e tupu pe a le maua le tino i le hexosaminidase A. Ole polotini lea e fesoasoani e gagau le vaega o vailaʻau o loʻo maua i neula ua taʻua o gangliosides. A aunoa ma lenei polotini, gangliosides, aemaise ganglioside GM2, fausia i luga o sela, masani lava sela sela i le faiʻai.

O le faʻamaʻi Tay-Sachs e mafua mai i le gaʻoa o le tino i luga o le chromosome 15. A amoina e matua uma le le lelei Tay-Sachs gene, e maua e le tamaititi le 25% avanoa e maua ai i lenei faʻamaʻi. E tatau i le tamaititi ona mauaina ni kopi se lua o le gaʻo le atoatoa, tasi mai matua taʻitasi, ina ia mafai ai ona maʻi. Afai naʻo le tasi matua tuʻufaʻatasi le le atoatoa gene i le tamaititi, ua faʻaigoaina le tamaititi o se ave. Latou te le mamai, ae ono pasi le faʻamaʻi ia latou lava fanau.

Soʻo se tasi e mafai ona avea ma ave o Tay-Sachs. Ae, o le faʻamaʻi e sili ona taatele i le Ashkenazi tagata Iutaia. Tasi i le toʻa 27 tagata o le faitau aofai o tagata o loʻo avea le Tay-Sachs gafa.

Tay-Sachs e vaevaeina i tamaititi, talavou, ma tagata matutua, faʻalagolago i faʻailoga ma pe a faʻatoa aliaʻe. Tele o tagata ma Tay-Sachs o loʻo iai le tamaititi. I lenei pepa, o le neura faʻaleagaina masani lava ona amata a o iai pea le pepe i le manava. O faʻailoga e masani ona aliali mai pe a 3 i le 6 masina le matua o le tamaititi. O le faʻamaʻi e ono tupu i se vave sili atu, ma o le tamaititi e masani ona oti i le 4 po o le 5 tausaga.

Late-onset Tay-Sachs faamaʻi, lea e afaina ai tagata matutua, e seasea lava.

Faʻailoga mafai ono aofia ai soʻo se tasi o mea nei:

• Tutuli
• Faʻaitiitia le faʻapipiʻi o mata, tauaso
• Faʻaitiitia le maso maso (leiloa o muso malosi), leiloa o le afi tomai, supa
• Faʻasolosolo tuputupu ae ma tuai ai le mafaufau ma agafesoʻotaʻi tomai
• Dementia (leiloa o faiʻai gaioiga)
• Faʻateleina le faʻateʻia o uiga
• Ita
• Lisi
• Faoa faamalosi

O le tausi soifua maloloina o le a suʻesuʻe le pepe ma fesili e uiga i lou aiga talaʻaga. O suʻega e mafai ona faia o:

• Suʻega ole enzyme ole toto poʻo le tino mo le hexosaminidase maualuga
• Suʻega ole mata (faʻaalia ai le samasama-lanumumu nofoaga ile macula)

E leai se togafiti mo faʻamaʻi Tay-Sachs lava ia, naʻo auala e faʻalelei atili ai le tagata.

O le faʻatamaʻi o maʻi e ono faʻaitiitia e ala i le auai i kulupu lagolago o latou sui e tutusa o latou poto masani ma faʻafitauli. O kulupu nei e mafai ona tuʻuina mai ni faʻamatalaga e uiga i le faʻamaʻi Tay-Sachs:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/tay-sachs-disease
• National Tay-Sachs ma Allied Diseases Association - www.ntsad.org
• NLM Genetics Fale Faʻasino Mataupu - ghr.nlm.nih.gov/condition/tay-sachs-disease

Tamaiti ua maua i lenei maʻi ua i ai faʻailoga e sili atu le leaga i le aluga o taimi. E masani ona feoti i latou ile taʻi 4 poʻo le 5 tausaga.

Faʻailoga foliga mai i le taimi muamua 3 i le 10 masina o le olaga ma alualu i luma i spasticity, faoa faamalosi, ma leiloa o uma ofo gaioiga.

Alu i le potu faʻafuaseʻi pe valaʻau le numera faʻafuaseʻi i le lotoifale (pei o le 911) pe a fai:

• O lou alo ua faoa faamalosi o le le iloa mafuaaga
• O le faoa e ese mai le faoa muamua
• O le tamaititi e faigata ona manava
• O le faoa e umi atu nai lo le 2 i le 3 minute

Valaʻau mo sau feiloaʻiga ma lau tautua pe a fai o lau tama o loʻo matauina ni isi suiga e maitauina.

E leai se auala iloa e puipuia ai lenei faʻamaʻi. Ole suʻega ole genetic e mafai ona iloa pe a fai o oe na te aveina le kenera mo lenei faʻamaʻi. Afai o oe poʻo lau paʻaga e sau mai se tulaga lamatia le faitau aofai o tagata, oe ono manaʻo e saili genesila faufautua ae e te leʻi amataina se aiga.

A faʻapea ua e maʻito, o le suʻesuʻeina ole suavai amniotic e mafai ona faʻamaonia ai le faʻamaʻi Tay-Sachs i le manava.

GM2 gangliosidosis - Tay-Sachs; Lysosomal teuina faʻamaʻi - Tay-Sachs faʻamaʻi

• Nofoʻaga popolevale ma faiga lautele neula

Kwon JM. Neurodegenerative faaletonu o tamaiti. I: Kliegman RM, Stanton BF, St.Geme JW, Schor NF, eds. Nelson Tusitusiga o Pediatrics. 20 ed. Filatelefia, PA: Elsevier; 2016: mata 599.

Nussbaum RL, McInnes RR, Willard HF. Le molemula, meaola ninii, ma feaveaʻi faʻavae o faʻafitauli tau iʻa. I le: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson ma Thompson Genetics i Faʻafomai. 8th ed. Filatelefia, PA: Elsevier; 2016: mata 12.

Wapner RJ, Dugoff L. Prenatal faʻamaoniga o faʻafitauli o fanau mai. I totonu: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy ma Resnik's Maternal-Fetal Faʻafomaʻi: Mataupu Faavae ma Faʻataʻitaʻi. 8th ed. Filatelefia, PA: Elsevier; 2019: chap 32