Hoʻoiho muscular musinal

ʻO ka atrophy musinalular atrinal (SMA) kahi hui o nā maʻi o nā neurons motika (nā hunaola moto). Hoʻoholo ʻia kēia mau maʻi i loko o nā ʻohana (hoʻoilina) a hiki ke hōʻike ʻia i kēlā me kēia wā o ke ola. ʻO ka maʻi e alakaʻi i ka nāwaliwali o nā mākala a me ke atrophy.

ʻO ka SMA kahi hōʻuluʻulu o nā ʻano maʻi ʻokoʻa moto. Hoʻohui pū ʻia, ʻo ia ke kumu ʻelua o ke kumu o ka maʻi neuromuscular hereditary, ma hope o Duchenne muscular dystrophy.

ʻO ka hapanui o ka manawa, pono i kahi kanaka e kiʻi i ka ʻāpana hemahema mai nā mākua ʻelua e hoʻopili ʻia. ʻO ke ʻano ʻoi loa ʻo SMA type I, i kapa ʻia ʻo Werdnig-Hoffman maʻi. ʻO nā pēpē me ka SMA type II ka liʻiliʻi o ko lākou ʻōuli koʻikoʻi i ka wā kamaliʻi, akā nāwaliwali lākou me ka manawa. ʻO SMA type III kahi ʻano ʻoi loa o ka maʻi.

I nā hihia maʻamau, hoʻomaka ʻo SMA i ka wā makua. ʻO kēia ka ʻano maʻalahi o ka maʻi.

ʻO kahi moʻolelo ʻohana o SMA i kahi lālā o ka ʻohana pili (e like me ke kaikaina a i ʻole kaikuahine) kahi pilikia no nā ʻano maʻi āpau.

Nā ʻōuli o SMA ʻo:

• Hānau ʻia nā pēpē me ke ʻano SMA me ka leo liʻiliʻi o ka ʻū, nā nāwaliwali, a me nā pilikia hānai a me ka hanu ʻana.
• Me SMA type II, ʻaʻole paha e ʻike ʻia nā ʻōuli a hiki i ka piha ʻana o nā makahiki 6 a 2 mau makahiki.
• ʻAno III SMA kahi maʻi maʻi e hoʻomaka ana i ka wā kamaliʻi a ʻōpio a e hele a ʻino hoʻi i ka maikaʻi.
• ʻOi aku ka maʻalahi o ka ʻano IV, me ka nāwaliwali e hoʻomaka ana i ke ʻano makua.

ʻO ka pinepine, ʻike mua ʻia ka nāwaliwali i nā mākala o ka poʻohiwi a me ka wāwae. E māhuahua loa ka nāwaliwali i ka hala ʻana o ka manawa a lilo i mea koʻikoʻi.

Nā ʻōuli i ka pēpē:

• ʻO ka paʻakikī hanu me ka hanu o ka hanu a me ka hanu hana, e alakaʻi ana i ka nele o ka oxygen
• Hānai hānai (hiki i ka meaʻai ke hele i loko o ka windpipe ma kahi o ka ʻōpū)
• Floppy pēpē (maikaʻi muso leo)
• Ka nele o ke kaohi poʻo
• Neʻe iki
• Nāwaliwali e hoʻonui ai i ka maikaʻi

Nā ʻōuli i ke keiki:

• ʻO nā maʻi hanu pinepine pinepine
• ʻLelo Nasal
• Kūlana eʻoi aku ai kaʻino

Me SMA, nā aʻaʻa e kāohi i ka naʻau (nā aʻalolo sensory) ʻaʻole e hoʻopili ʻia. No laila, hiki i ke kanaka me ka maʻi ke ʻike i nā mea maʻamau.

E mālama ka mea mālama ola i kahi mōʻaukala akahele a hana i kahi lolo / ʻōnaehana ʻōnaehana (neurologic) e ʻike inā aia:

• He moʻolelo ʻohana o ka maʻi neuromuscular
• Nā mākala Floppy (flaccid)
• ʻAʻohe reflexes tendon hohonu
• Pākuʻi ʻia ka mākala alelo

ʻO nā hoʻokolohua i kauoha ʻia e komo pū:

• Hōʻike Aldolaseblood
• Ka helu sedimentation ʻErythrocyte (ESR)
• Hoʻokolohua koko Creatine phosphate kinase
• Ke ho'āʻo nei ʻo DNA e hōʻoia i ka hōʻoia
• Uila (EMG)
• Lactate / pyruvate
• MRI o ka lolo, iwi kuamoʻo, a me ka iwi kuamoʻo
• ʻO Biopsy Muscle
• Ke aʻo conduction nerve
• Nā hoʻāʻo koko ʻAmino acid
  
• Hōʻoia ke koko

ʻAʻohe lāʻau e hōʻola ai i ka nāwaliwali o ka maʻi. He mea nui ke kākoʻo kākoʻo. ʻO ka pilikia o ka hanu ʻana he maʻa mau ia i nā ʻano ʻoi loa o ka SMA. I mea e kōkua ai i ka hanu ʻana, pono paha kahi mea a mīkini paha i kapa ʻia he ventilator.

Pono e kiaʻi ʻia ka poʻe me SMA no ke kuke ʻana. ʻO kēia no ka mea nāwaliwali nā mākala e kaohi i ka ale ʻana.

He mea nui ka hoʻōla kino e pale ai i ka hoʻohaʻahaʻa o nā mākala a me nā olonā a me ka curvature maʻamau o ka iwi kuamoʻo (scoliosis). Pono paha ka pale ʻana. Pono paha ke ʻoki e hoʻoponopono i nā kino iwi, e like me scoliosis.

ʻElua mau lapaʻau i ʻāpono hou ʻia no SMA areonasemnogene abeparvovec-xioi (Zolgensma) a me nusinersen (Spinraza). Hoʻohana ʻia kēia mau lāʻau i kekahi mau ʻano SMA. E kamaʻilio me kāu mea mālama ola e ʻike inā kūpono kekahi o kēia mau lāʻau iā ʻoe a i kāu keiki paha.

ʻO nā keiki me ke ʻano SMA, ʻaʻole iki wau e noho lōʻihi ma mua o 2 a 3 mau makahiki ma muli o nā pilikia hanu a me nā maʻi. ʻOi aku ka lōʻihi o ke ola ʻana me ka ʻano II, akā make ka maʻi i ka hapa nui o ka poʻe i hoʻopilikia ʻia i ka wā kamaliʻi.

Hiki i nā keiki me ka maʻi III ke ola i ka wā makua. Akā, ʻo ka poʻe me nā ʻano maʻi āpau he nāwaliwali a palupalu hoʻi e ʻoi aku ana ka maikaʻi ma mua o ka manawa. ʻO nā mākua e hoʻomohala iā SMA i kahi manawa maʻamau o ke ola maʻamau.

ʻO nā pilikia i hopena ʻia mai SMA mai:

• Aspiration (ʻai a me nā wai i loko o nā akemāmā, e hōʻeha ana i ka niumonia
• ʻO nā kuʻikahi o nā mākala a me nā uaua
• Hewa puʻuwai
• Scoliosis

Kāhea i kāu mea hāʻawi inā kāu keiki:

• Hōʻike nāwaliwali
• Hoʻokumu i nā ʻōuli ʻē aʻe o SMA
• He paʻakikī i ka hānai ʻana

Hiki i ka pilikia hanu ke lilo wikiwiki i kahi kūlana pilikia.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe me ka moʻolelo ʻohana o SMA e makemake ana e hānau keiki.

Maʻi ʻo Werdnig-Hoffmann; ʻO ka maʻi ʻo Kugelberg-Welander

• Nā mākala mua ma mua
• Scoliosis

ʻO Fearon C, Murray B, Mitsumoto H. Nā maʻi o nā neurons kaʻa kiʻekiʻe a me lalo. 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 98.

ʻO Haliloglu G. ʻApopio muscular iwi kuamoʻo. 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 630.2.

Pūnaewele NIH Genetics Home Reference. Hoʻoiho muscular musinal. ghr.nlm.nih.gov/condition/spinal-muscular-atrophy. Hoʻohou ʻia ʻOkakopa 15, 2019. Loaʻa iā Nowemapa 5, 2019.