Ka maʻi ʻo Charcot-Marie-Tooth

ʻO ka maʻi Charcot-Marie-Tooth kahi hui o nā maʻi i hala i waena o nā ʻohana e hoʻopili i nā aʻalolo ma waho o ka lolo a me ka iwi kuamoʻo. Kāhea ʻia kēia mau ʻāʻī nā aʻa peripheral.

ʻO Charcot-Marie-Tooth kekahi o nā maʻi pili i ke aʻalolo i hele pinepine ʻia i waena o nā ʻohana (hoʻoilina). Hoʻololi i nā genes he 40 ma mua o ke ʻano o kēia maʻi.

ʻO ka maʻi e alakaʻi i ka hōʻino a i ʻole ka luku ʻana i ka uhi (myelin sheath) e pili ana i nā olonā nerve.

ʻO nā aʻalolo e hoʻoulu ai i ka neʻe (i kapa ʻia ʻo nā ʻāʻī motor) ka mea e loli loa. Hoʻopili mua nā aʻa i nā wāwae a ʻoi loa.

Hoʻomaka pinepine nā ʻōuli ma waena o ke ʻōpio a me ke ʻano makua. Pākuʻi ʻia lākou:

• Deformity wāwae (kiʻekiʻe kiʻekiʻe i nā wāwae)
• Pa'ū wāwae (hiki ʻole ke hoʻopaʻa i ka wāwae.
• Ka nalowale ʻana o nā mākala wāwae o lalo, a hiki i nā keiki bipi wīwī
• Pōpō i ka wāwae a i ʻole ka wāwae
• Hele wāwae "Slapping" (kū ka wāwae i ka papahele ke hele wāwae)
• Nāwaliwali o nā hiʻupuʻu, nā wāwae, a me nā wāwae

Ma hope, ʻike ʻia nā hōʻailona like i nā lima a me nā lima. Pākuʻi ʻia paha kēia i ka lima mānoanoa.

E hōʻike paha kahi hōʻike kino:

• Hāpai ka paʻakikī i ka wāwae a hana i ka neʻe ʻana o ka manamana wāwae (hāʻule wāwae)
• Ka nele o ke kīloi reflexes i nā wāwae
• ʻO ka nalowale o ka kaohi muscle a me ke atrophy (hoʻoliʻiliʻi o nā mākala) i ka wāwae a me ka wāwae
• ʻO nā pūnana nerve mānoanoa ma lalo o ka ʻili o nā wāwae

Hana pinepine ʻia nā hoʻokolohua conduction nerve e ʻike i nā ʻano like ʻole o ka maʻi. Hiki i kahi biopsy nerve ke hōʻoia i ka hōʻailona.

Loaʻa ka hoʻāʻo genetic no ka nui o nā ʻano maʻi.

ʻAʻohe lāʻau i ʻike ʻia. Hiki ke maʻalahi ke hele wāwae i ka ʻoki orthopedic a i ʻole nā ​​pono hana (e like me nā paʻa lima a me nā kāmaʻa orthopedic).

Hiki i ke olakino a me ka ʻoihana hana ke kōkua i ka mālama ʻana i ka ikaika i nā mākala a hoʻomaikaʻi i ka hana kūʻokoʻa.

Hele a mānoanoa ka maʻi o Charcot-Marie-Tooth. E lilo paha kekahi mau ʻāpana o ke kino i mea ʻole, a ʻeha ka ʻeha mai ke akahai a i ʻole koʻikoʻi. ʻO ka hopena e hōʻeha paha ka maʻi.

Komo pū nā pilikia:

• Hiki ʻole ke hele holomua
• Nāwaliwali holomua
• ʻO ka hōʻeha i nā wahi o ke kino i hōʻemi i ka sensation

Kāhea i kāu mea mālama ola inā e mau ana ka nāwaliwali a i ʻole hoʻemi ʻia ka manaʻo i nā wāwae a i ʻole nā ​​wāwae.

Kūkā ʻia ka ʻōlelo aʻoaʻo genetic a me ka hoʻāʻo ʻana inā aia kahi moʻolelo ʻohana ikaika o ka maʻi.

Hoʻoiho neuropathic holomua (peroneal) muscular atrophy; ʻO ke kīnā ʻole nerve ʻōiwi hoʻoilina; Neuropathy - peroneal (hoʻoilina); ʻO ka motuka hoʻoilina a me ka neuropathy sensory

• ʻŌnaehana ʻōnaehana waena a me ka ʻōnaehana ʻōnaehana peripheral

Katirji B. Nā maʻi o nā aʻalolo āpau. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier Saunders; 2016: chap 107.

ʻO Sarnat HB. Nā neuropathies motor-sensory hoʻoilina. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 631.