Friedreich ataxia

ʻO Friedreich ataxia kahi maʻi maʻi laha ʻole i hoʻoili ʻia e nā ʻohana (hoʻoilina). Hoʻopili ia i nā mākala a me ka puʻuwai.

Hoʻokumu ʻia ʻo Friedreich ataxia e kahi kīnā ma kahi ʻāpana i kapa ʻia ʻo frataxin (FXN). ʻO nā loli i kēia ʻāpana ke kumu o ke kino e hana i ka hapa nui o kahi ʻāpana o DNA i kapa ʻia ʻo trinucleotide repe (GAA). ʻO ka maʻamau, loaʻa ke kino ma kahi o 8 a 30 mau kope o GAA. ʻO ka poʻe me Friedreich ataxia he nui nā kope he 1000. ʻO ka nui o nā kope GAA o ke kanaka, ʻo ka mua o ke ola e hoʻomaka ai ka maʻi a ʻoi aku ka wikiwiki o ka maikaʻi.

ʻO Friedreich ataxia kahi maʻi genes recessive autosomal. ʻO kēia ka pono e kiʻi i kahi kope o ka ʻāpana hemahema mai kou makuahine a me kou makuakāne.

Hoʻokumu ʻia nā ʻōuli e ka ʻaule ʻana o nā hanana i nā wahi o ka lolo a me ka iwi kuamoʻo e kāohi ana i ka hoʻohui ʻana, ka neʻe ʻana o nā mākala, a me nā hana ʻē aʻe. Hoʻomaka pinepine nā ʻōuli ma mua o ka ʻōpio. Pākuʻi ʻia paha nā ʻōuli:

• ʻLelo maʻamau
• Nā loli i ka hihiʻo, ka ʻike kiko kala hoʻi
• Hoʻoemi i ka hiki ke ʻike i nā haʻalulu i nā lālā haʻahaʻa
• Nā pilikia o ka wāwae, e like me ka manamananui a me nā pio kiʻekiʻe
• Lohe ka lohe, hana kēia ma kahi o 10% o ka poʻe
• ʻO ka neʻe ʻana o ka maka ʻo Jerky
• ʻO ka nalowale o ka hoʻonohonoho a me ke kaulike, kahi e alakaʻi ai i ka hāʻule pinepine
• Nāwaliwali ka ʻiʻo
• ʻAʻohe reflexes i nā wāwae
• ʻO ke hele wāwae ʻole a me nā neʻe ʻole i hoʻohui ʻia (ataxia), kahi e ʻino loa me ka manawa

ʻO nā pilikia o ka mākala e alakaʻi i nā loli i ka huelo. ʻO kēia ka hopena i ka scoliosis a i ʻole kyphoscoliosis.

Hoʻonui pinepine ka maʻi puʻuwai a hiki i ke kī ʻole o ka puʻuwai. ʻO ka maikaʻi ʻole o ka puʻuwai a i ʻole nā ​​dysrhythmia e pane ʻole i ka mālama ʻana e hopena paha i ka make. Hiki i ka diabetes ke ulu i nā wā hope o ka maʻi.

E hana ʻia paha kēia mau hoʻāʻo:

• ECG
• Nā noiʻi electrophysiological
• EMG (electromyography)
• Ke hoʻāʻo genetic
• Nā hoʻāʻo conduction nerve
• ʻO Biopsy Muscle
• X-ray, CT scan, a i ʻole MRI o ke poʻo
• X-ray o ka umauma
• X-ray o ka iwi kuamoʻo

Hōʻike paha nā hōʻike ʻana i ke kō a me ke kō (glucose) i ka maʻi kō a i ʻole ke ahonui o ka glucose. Hōʻike paha kahi hoʻokolohua maka i ka hōʻino ʻana i ke aʻalolo optic, e hana pinepine ʻia me ka ʻole o nā hōʻailona.

ʻO ka mālama ʻana iā Friedreich ataxia me:

• ʻLelo aʻoaʻo
• ʻ .lelo haʻi ʻōlelo
• Hoʻoikaika kino
• Nā kōkua hele wāwae a i ʻole nā ​​noho huila

Pono paha nā mea Orthopedic (braces) no ka scoliosis a me nā pilikia o ka wāwae. ʻO ka mālama ʻana i ka maʻi puʻuwai a me ka maʻi kō ke kōkua i ka poʻe e ola lōʻihi a hoʻomaikaʻi i ko lākou ola.

ʻO Friedreich ataxia e hele lohi a lilo i mau pilikia i ka hana ʻana i nā hana o kēlā me kēia lā. Pono ka hapa nui o ka poʻe e hoʻohana i kahi noho huila ma waena o 15 mau makahiki o ka hoʻomaka ʻana o ka maʻi. Hiki i ka maʻi ke alakaʻi i ka make mua.

Komo pū nā pilikia:

• Diabetes
• Hewa ka puʻuwai a i ʻole maʻi maʻi puʻuwai
• Ka nalowale o ka hiki ke neʻe a puni

Kāhea i kāu mea mālama ola inā loaʻa nā ʻōuli o Friedreich ataxia, keu hoʻi inā he moʻolelo ʻohana ka maʻi.

ʻO ka poʻe me ka mōʻaukala ʻohana o Friedreich ataxia ka mea i manaʻo e loaʻa nā keiki e makemake paha e noʻonoʻo i ka loiloi genetic e hoʻoholo ai i ko lākou pilikia.

Friedreich's ataxia; Hoʻohaʻahaʻa Spinocerebellar

• ʻŌnaehana ʻōnaehana waena a me ka ʻōnaehana ʻōnaehana peripheral

Mink JW. Nā maʻi neʻe. I: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 20 ouk. Piladelapia, PA: Elsevier; 2016: chap 597.

ʻO Warner WC, Sawyer JR. Scoliosis a me kyphosis. I: Azar FM, Beaty JH, Canale ST, hua. ʻO Campbell's Operative Orthopedics. 13th ed. Piladelapia, PA: Elsevier; 2017: chap 44.