Neurodegeneration ma faiʻai uʻamea faaputuga (NBIA)

Neurodegeneration ma faiʻai uʻamea faaputuputuga (NBIA) o se vaega o seasea mauaʻi neʻi faʻafitauli tino. E pasi atu i latou i aiga (tofi). NBIA aofia ai faʻafitauli o gaioiga, le mafaufau, ma isi faʻailoga o neula.

Faʻailoga o le NBIA amata i le tamaititi poʻo le matua.

E 10 ituaiga o NBIA. Taʻitasi ituaiga mafua mai i se eseʻese gafa. Ole faʻaletonu tele ole gafa ole mafuaʻaga ole faʻafitauli ua taʻua ole PKAN (pantothenate kinase-associate neurodegeneration).

Tagata e iai ituaiga uma o le NBIA o loʻo iai se faʻaputuga uʻamea i le basal ganglia. Lenei o le vaega loloto i totonu o le faiʻai. E fesoasoani faʻatonutonu gaioiga.

O le NBIA e tele na mafua ai faʻafitauli tau feoaʻi. O isi faʻailoga e mafai ona aofia ai:

• Faanoanoaga
• Faigata tautalaga
• Faigata faʻaumatia
• Faʻafitauli o maso e pei o le maʻaʻa pe musu maso maso (dystonia)
• Faoa faamalosi
• Faʻafefe
• Leiloa le vaʻai, pei o le retinitis pigmentosa
• Vaivaiga
• Gaioiga tusitusi
• Toe savali

O le tausi soifua maloloina o le a faia se faʻataʻitaʻiga tino ma fesili e uiga i faʻailoga ma talaʻaga faʻasolopito.

O suʻesuʻega faʻafuaseʻi e mafai ona suʻesuʻeina le gaʻoga poʻo le mafaufau ua mafua ai le faʻamaʻi. Peitai, o nei suʻega e le o avanoa lautele.

O faʻataʻitaʻiga e pei o le MRI scan e mafai ona fesoasoani e faʻateʻa ai isi faʻalavelave ma faʻamaʻi o gaioiga. E masani ona faʻaalia e le MRI ni teu uʻamea i le basal ganglia, ma e taʻua o le "mata o le taika" faʻailoga ona o le vaʻai o tupe teu i le scan. Lenei faʻailoga faʻailoa mai se faʻamaoniga o PKAN.

E leai se faʻapitoa togafitiga mo NBIA. O vailaʻau e fusifusia uʻamea ono fesoasoani e faʻatelegese ai le faʻamaʻi. Togafitiga e masani lava taulaʻi i le faʻatonutonuina o faʻailoga. O vailaʻau e masani ona faʻaaogaina e faʻatonutonu ai faʻailoga e aofia ai le baclofen ma le trihexyphenidyl.

Ua atili ai ona leaga le NBIA ma faʻaleagaina neura a o alu le taimi. E tau atu i le le lava o gaioi, ma masani ona oti i le amataga o le matua.

O vailaʻau e faʻaaoga e togafitia ai faʻailoga e ono mafua ai faʻalavelave. O le le mafai ona alu ese mai le faʻamaʻi e mafai ona taitai atu ai i:

• Toto toto
• Faʻamaʻi manava
• Paʻu le paʻu

Valaʻau lau tautua pe a fai o lau tama tuputupu aʻe:

• Faʻateleina le maʻaʻa i lima poʻo vae
• Faʻateleina faʻafitauli i le aʻoga
• Gaioiga le masani ai

O fautuaga tuʻufaʻasolopito atonu e fautuaina mo aiga ua aʻafia i lenei maʻi. E leai se auala iloa e puipuia ai.

Faʻamaʻi Hallervorden-Spatz; Pantothenate kinase-fesoʻotaʻi neurodegeneration; PKAN; NBIA

Gregory A, Hayflick S, Adam MP, et al. Neurodegeneration ma faiʻai uʻamea faaputuputuina faʻafitauli le atoatoa. 2013 Fepuari 28 [faʻafouina 2019 Oketopa 21]. I: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Initaneti]. Seattle, WA: Iunivesite o Uosigitone; 1993-2020. PMID: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.

Jankovic J. Parkinson faamaʻi ma isi gasegase le atoatoa. I totonu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology i Fomaʻi Faʻataʻitaʻi. 7th ed. Filatelefia, PA: Elsevier; 2016: mata 96.

NBIA Faʻaletonu Asosi. Aotelega o faʻamaʻi NBIA. www.nbiadisorder.org/about-nbia/overview-of-nbia-disorder. Avanoa ia Novema 3, 2020.