I-Neurodegeneration kunye nokuqokelelwa kwentsimbi yengqondo (NBIA)

I-Neurodegeneration yokuqokelelwa kwentsimbi yengqondo (i-NBIA) liqela leengxaki ezinqabileyo zenkqubo ye-nervous. Badluliselwa kwiintsapho (kwilifa). I-NBIA ibandakanya iingxaki zokuhamba, isifo sengqondo esixhalabisayo, kunye nezinye iimpawu zenkqubo yeemvakalelo.

Iimpawu ze-NBIA ziqala ebuntwaneni okanye ebudaleni.

Zili-10 iintlobo zeNBIA. Uhlobo ngalunye lubangelwa sisiphene semfuza esahlukileyo. Olona hlobo lwesiphene luqhelekileyo lubangela ukuphazamiseka okubizwa ngokuba yi-PKAN (i-pantothenate kinase-ehambelana ne-neurodegeneration).

Abantu bazo zonke iintlobo ze-NBIA banesakhiwo esenziwe ngentsimbi kwi-basal ganglia. Le yindawo enzulu ngaphakathi kwengqondo. Inceda ukulawula ukuhamba.

I-NBIA ikakhulu ibangela iingxaki zokuhamba. Ezinye iimpawu zingabandakanya:

• Isifo sengqondo esiyingozi
• Kunzima ukuthetha
• Kunzima ukugwinya
• Iingxaki zemisipha ezifana nokuqina okanye ukungahambelani kwezihlunu (dystonia)
• Ukuxhuzula
• Ukungcangcazela
• Ukulahleka kombono, okuvela kwi-retinitis pigmentosa
• Ubuthathaka
• Iintshukumo zokubhala
• Ukuhamba ngeenzwane

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye abuze malunga neempawu kunye nembali yezonyango.

Uvavanyo lweMfuza lunokujonga uhlobo olungalunganga olubangela isifo. Nangona kunjalo, ezi mvavanyo azifumaneki ngokubanzi.

Uvavanyo olufana nokuvavanywa kweMRI kunokunceda ukulawula ezinye iingxaki zokuhamba kunye nezifo. I-MRI ihlala ibonisa iidipozithi zentsimbi kwi-basal ganglia, kwaye ibizwa ngokuba "liso lengwe" uphawu ngenxa yendlela iidipozithi ezijongeka ngayo xa kuskenwa. Olu phawu lubonisa ukuxilongwa kwe-PKAN.

Akukho lonyango oluthile lwe-NBIA. Amayeza abopha i-iron anokunceda ekucothiseni isifo. Unyango lujolise ikakhulu ekulawuleni iimpawu. Amayeza aqhelekileyo asetyenziswa ukulawula iimpawu zibandakanya i-baclofen kunye ne-trihexyphenidyl.

I-NBIA iya isiba mandundu kwaye yenzakalise imithambo-luvo ekuhambeni kwexesha. Kukhokelela ekuswelekeni kokuhamba, kwaye kuhlala kusweleka ngenxa yokuba mdala.

Amayeza asetyenziselwa ukunyanga iimpawu kunokubangela iingxaki. Ukungakwazi ukuhamba kwesi sifo kunokukhokelela ku:

• Amahlwili egazi
• Izifo zokuphefumula
• Ukonakala kolusu

Shayela umnikezeli wakho ukuba umntwana wakho ukhula:

• Ukwanda kokuqina kwiingalo okanye emilenzeni
• Ukwanda kweengxaki esikolweni
• Ukuhamba okungaqhelekanga

Ingcebiso ngemfuzo inokucetyiswa kwiintsapho ezichaphazeleka sesi sigulo. Akukho ndlela yaziwayo yokuthintela.

Isifo seHallervorden-Spatz; I-Pantothenate kinase-enxulumene ne-neurodegeneration; IPKAN; I-NBIA

UGregory A, uHayflick S, uAdam MP, et al. I-Neurodegeneration kunye nengqondo yokuqokelelwa kwesinyithi kwingqondo. Ngo-2013 uFebruwari 28 [ihlaziyiwe ngo-Okthobha 21]. Ku: UAdam MP, uArdinger HH, uPagon RA, et al, ii-eds. Uhlolo lwe-Gene [i-Intanethi]. Seattle, WA: IYunivesithi yaseWashington; 1993-2020. IINKCUKACHA: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.

Isifo sikaJankovic J. Parkinson kunye nezinye iingxaki zokuhamba. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 96.

Umbutho weengxaki ze-NBIA. Ushwankathelo lweengxaki ze-NBIA. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders. Kufunyenwe ngoNovemba 3, 2020.