I-Neurodegeneration enokuqoqwa kwensimbi yobuchopho (i-NBIA)

I-Neurodegeneration enokuqoqwa kwensimbi yobuchopho (i-NBIA) iyiqembu lezinkinga zesistimu yezinzwa ezingavamile kakhulu. Badluliselwa emindenini (ezuzwe njengefa). I-NBIA ibandakanya izinkinga zokuhamba, ukuwohloka komqondo, nezinye izimpawu zesistimu yezinzwa.

Izimpawu ze-NBIA ziqala ebuntwaneni noma ebudaleni.

Kunezinhlobo eziyi-10 ze-NBIA. Uhlobo ngalunye lubangelwa ukukhubazeka okwehlukile kofuzo. Isici sofuzo esivame kakhulu sidala ukuphazamiseka okubizwa nge-PKAN (pantothenate kinase-associated neurodegeneration).

Abantu abanezinhlobo zonke ze-NBIA banenqwaba yensimbi ku-basal ganglia. Le yindawo ekujuleni kwengqondo. Kuyasiza ukulawula ukunyakaza.

I-NBIA ibanga kakhulu izinkinga zokuhamba. Ezinye izimpawu zingafaka:

• Ukuwohloka komqondo
• Kunzima ukukhuluma
• Kunzima ukugwinya
• Izinkinga zemisipha ezinjengokuqina noma ukuphambana kwemisipha okungazibandakanyi (i-dystonia)
• Ukuquleka
• Ukuthuthumela
• Ukulahleka kombono, okuvela ku-retinitis pigmentosa
• Ubuthakathaka
• Ukunyakaza kokubhala
• Ukuhamba ngozwane

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa ngokomzimba abuze ngezimpawu nomlando wezokwelapha.

Ukuhlolwa kofuzo kungabheka isakhi sofuzo esingalungile esidala lesi sifo. Noma kunjalo, lezi zivivinyo azitholakali kabanzi.

Ukuhlolwa okufana nokuskena kwe-MRI kungasiza ukukhipha ezinye izinkinga zokunyakaza nezifo. I-MRI ivamise ukukhombisa ukufakwa kwensimbi kwi-basal ganglia, futhi ibizwa ngokuthi "iso le-tiger" uphawu ngenxa yendlela imali ebukeka ngayo kuskena. Lesi sibonakaliso sikhombisa ukuxilongwa kwe-PKAN.

Akukho ukwelashwa okuqondile kwe-NBIA. Imithi ebopha i-iron ingasiza ekunciphiseni isifo. Ukwelashwa kugxile kakhulu ekulawuleni izimpawu. Imithi esetshenziswa kakhulu ukulawula izimpawu ifaka i-baclofen ne-trihexyphenidyl.

I-NBIA iba yimbi kakhulu futhi ilimaza izinzwa ngokuhamba kwesikhathi. Kuholela ekungahambekini kokunyakaza, futhi kaningi kubulawe lapho usumdala.

Imithi esetshenziselwa ukwelapha izimpawu ingadala izinkinga. Ukwehluleka ukusuka kulesi sifo kungaholela ku:

• Amahlule egazi
• Izifo zokuphefumula
• Ukuwohloka kwesikhumba

Shayela umhlinzeki wakho uma ingane yakho ikhula:

• Ukwanda kokuqina ezingalweni noma emilenzeni
• Izinkinga ezandayo esikoleni
• Ukunyakaza okungajwayelekile

Ukwelulekwa ngofuzo kunganconywa emindenini ethintwe yilesi sifo. Ayikho indlela eyaziwayo yokuyivimba.

Isifo se-Hallervorden-Spatz; I-Pantothenate kinase-ehlobene neurodegeneration; I-PKAN; I-NBIA

UGregory A, uHayflick S, u-Adam MP, et al. I-Neurodegeneration enenkinga yokuqoqwa kwensimbi yobuchopho ngokubuka konke. 2013 Feb 28 [kubuyekezwe 2019 Oct 21]. Ku: Adam MP, Ardinger HH, Pagon RA, et al, ama-eds. I-GeneReviews [i-Intanethi]. Seattle, WA: University of Washington; 1993-2020. I-PMID: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.

Isifo sikaJankovic J. Parkinson nezinye izinkinga zokuhamba. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 96.

Inhlangano Yezinkinga ze-NBIA. Sibutsetelo sezinkinga ze-NBIA. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders. Kufinyelelwe ngoNovemba 3, 2020.