Neurodegeneration me ka hao hao hōʻiliʻili (NBIA)

ʻO ka neurodegeneration me ka hōʻiliʻili hao o ka lolo (NBIA) kahi hui o nā maʻi ʻōnaehana liʻiliʻi loa. Ua hala lākou i loko o nā ʻohana (hoʻoilina). Pili ʻo NBIA i nā pilikia neʻe, dementia, a me nā ʻōuli ʻōnaehana ʻōiwi ʻē aʻe.

Hoʻomaka nā ʻōuli o NBIA i ka wā kamaliʻi a makua paha.

Aia he 10 ʻano o NBIA. Hoʻokumu ʻia kēlā me kēia ʻano e nā ʻano kīnā ʻokoʻa. ʻO ka hemahema o ka ʻāpana maʻamau ka maʻi i kapa ʻia ʻo PKAN (neurotegeneration e pili pū ana me pantothenate).

Loaʻa ka hao o ka poʻe me nā ʻano āpau o NBIA i ka ganglia basal. ʻO kēia kahi hohonu i loko o ka lolo. Kōkua ia i ka mālama ʻana i ka neʻe.

ʻO NBIA ke kumu o nā pilikia neʻe. Hiki i nā ʻōuli ʻē aʻe ke:

• Dementia
• Ka ʻōlelo paʻakikī
• Pilikia i ka ale ʻana
• Nā pilikia Muscle e like me ka ʻoʻoleʻa a i ʻole nā ​​kuʻikahi musele hoʻoikaika ʻole (dystonia)
• Ka hopu ʻana i nā maʻi
• Haʻalulu
• Lilo ka hihiʻo, e like me mai retinitis pigmentosa
• Nawaliwali
• Nā neʻe Writhing
• Hele wāwae wāwae

E hana ka mea mālama ola i kahi hoʻokolohua kino a nīnau e pili ana i nā ʻōuli a me ka mōʻaukala.

Hiki i nā hoʻokolohua genetic ke nānā no ka gen defective i kumu i ka maʻi. Eia naʻe, ʻaʻole loaʻa ākea kēia mau hoʻāʻo.

Hiki i nā hoʻāʻo e like me ka MRI scan ke kōkua i ka pale ʻana i nā maʻi neʻe a me nā maʻi ʻē aʻe. Hōʻike pinepine ka MRI i nā waiho hao ma ka ganglia basal, a kapa ʻia ka hōʻailona "maka o ke Tiga" ma muli o ke ʻano o nā waihona i ka scan. Hōʻike kēia hōʻailona i kahi hōʻailona o PKAN.

ʻAʻohe mālama kūikawā no NBIA. ʻO nā lāʻau e hoʻopaʻa ai i ka hao ke kōkua i ka lohi o ka maʻi. Hoʻomaopopo nui ʻia ka mālama ʻana i ka kaohi ʻana i nā ʻōuli. ʻO nā lāʻau i hoʻohana pinepine ʻia e kaohi i nā ʻōuli e like me baclofen a me trihexyphenidyl.

Hele a māhuahua ʻo NBIA a hoʻopōʻino i nā aʻa i ka hala ʻana o ka manawa. Ke alakaʻi nei ia i ka hemahema o ka neʻe, a me ka make pinepine e ke ʻano makua.

ʻO nā lāʻau i hoʻohana ʻia e mālama i nā hōʻailona hiki ke hana i nā pilikia. ʻAʻole hiki ke neʻe mai ka maʻi i hiki ke alakaʻi iā:

• Huʻi koko
• Nā maʻi hanu
• Uha ʻili

Kāhea i kāu mea hāʻawi inā ulu kāu keiki:

• Hoʻonui i ka ʻoʻoleʻa i nā lima a me nā wāwae
• Hoʻonui i nā pilikia ma ke kula
• Nā neʻe maʻamau ʻole

Kūkā ʻia paha ka ʻōlelo aʻoaʻo genetic no nā ʻohana i hoʻopilikia ʻia e kēia maʻi. ʻAʻohe ala i ʻike ʻia e pale aku ai.

ʻO ka maʻi Hallervorden-Spatz; Pantothenate kinase-pili neurodegeneration; PKAN; NBIA

Gregory A, Hayflick S, Adam MP, et al. Neurodegeneration me ka lolo hao hōʻiliʻili maʻi hōʻike ākea. 2013 Feb 28 [hōʻano ʻia 2019 ʻOkakopa 21]. I: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Pūnaewele]. Seattle, WA: Kulanui o Wakinekona; 1993-2020. PMID: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.

ʻO Jankovic J. Parkinson maʻi a me nā ʻano neʻe ʻē aʻe. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 96.

ʻAhahui Nā maʻi NBIA. ʻO ka nānā ākea o nā maʻi NBIA. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorder. Loaʻa iā Nowemapa 3, 2020.