Duchenne muscular dystrophy

ʻO Duchenne muscular dystrophy kahi maʻi muscular hoʻoilina. Pili ia i ka nāwaliwali o nā mākala, a lilo koke i mea ʻino.

ʻO Duchenne muscular dystrophy kahi ʻano o ka mustrular dystrophy. Piʻi koke ia. ʻO nā dystrophies muscular ʻē aʻe (e laʻa me Becker muscular dystrophy) e hele a ʻoi aku ka maikaʻi.

Hoʻokumu ʻia ʻo Duchenne muscular dystrophy e kahi ʻāpana hemahema no ka dystrophin (kahi protein i nā mākala). Eia nō naʻe, hana pinepine ia i ka poʻe me ka ʻole o ka moʻolelo ʻohana i ʻike ʻia o ke ʻano.

Hoʻopilikia pinepine ke ʻano i nā keikikāne ma muli o ke ʻano o ka hoʻoilina o ka maʻi. ʻO nā keikikāne o nā wahine i hāpai i ka maʻi (nā wahine me ka ʻāpana hemahema, akā ʻaʻohe hōʻailona o lākou iho) he 50% ka loaʻa o kēlā maʻi kēia maʻi. He 50% ka manawa kūpono o nā kaikamahine i ka lawe ʻana. Kākaʻikahi loa, hiki i ka wahine ke hoʻopilikia ʻia e ka maʻi.

Hana ʻia ʻo Duchenne muscular dystrophy ma kahi o 1 o kēlā me kēia 3600 kāne pēpē. No ka mea he maʻi hoʻoilina kēia, loaʻa i nā makaʻu ka moʻolelo ʻohana o Duchenne muscular dystrophy.

Hōʻike pinepine ʻia nā ʻōuli ma mua o ka makahiki 6. Hiki mai lākou i ka wā kamaliʻi. ʻAʻole hōʻike ka hapanui o nā keikikāne i kahi hōʻailona i nā makahiki mua o ke ola.

Pākuʻi ʻia paha nā ʻōuli:

• Ka luhi
• Nā pilikia aʻo (hiki i ka IQ ma lalo o 75)
• Kīnā o ka ʻike (hiki, akā ʻaʻole e poino i ka holo ʻana o ka manawa)

Nawaliwali kaʻiʻo:

• Hoʻomaka i nā wāwae a me ke pelvis, akā ʻoi aku ka liʻiliʻi ma nā lima, ka ʻāʻī, a me nā wahi ʻē aʻe o ke kino
• Nā pilikia me nā mākau kaʻa (holo, lele ʻana, lele lele)
• Hāʻule pinepine
• Hoʻopilikia i ka ala ʻana mai kahi moe ʻana a i ka piʻi ʻana paha i nā ʻanuʻu
• Ka liʻiliʻi o ka hanu, ka luhi a me ka pehu ʻana o nā wāwae ma muli o ka nāwaliwali o ka puʻuwai puʻuwai
• Hoʻopilikia i ka hanu ʻana ma muli o ka nāwaliwali o nā mākala hanu
• Ke hōʻemi haʻahaʻa o ka nāwaliwali o nā mākala

Holoholo pilikia holomua:

• Hiki ke nalowale ka hiki ke hele i ka makahiki 12, a e hoʻohana ke keiki i kahi noho huila.
• Hoʻomaka pinepine nā pilikia hanu a me nā maʻi puʻuwai e ka makahiki 20.

Hiki ke hōʻike ʻia kahi ʻōnaehana ʻōnaehana piha (neurological), puʻuwai, akemāmā, a me nā mākala:

• ʻO ke kino maʻamau, nā puʻuwai maʻi maʻi (cardiomyopathy) e ʻike ʻia e ka makahiki 10.
• Loaʻa ka puʻuwai puʻuwai a i ʻole ka puʻuwai maikaʻi ʻole (arrhythmia) i nā poʻe āpau me Duchenne muscular dystrophy e ka makahiki 18.
• Nā hana a ka umauma a me ke kua (scoliosis).
• Nā mākala i hoʻonui ʻia o nā keiki bipi, nā ʻūlū, a me nā poʻohiwi (ma kahi o 4 a 5 mau makahiki). Hoʻololi ʻia kēia mau mākala e ka momona a me nā mea hoʻopili (pseudohypertrophy).
• Lilo o ka nui o nā mākala (ʻōpala).
• Pākuʻi ka mākala i nā kuʻekuʻe wāwae, nā wāwae.
• Nā ʻino ʻino.
• Nā maʻi hanu, e like me ka niumonia a me ka ale ʻana me ka meaʻai a wai paha e hele ana i loko o nā akemāmā (i nā pae hope o ka maʻi).

E komo pū paha nā hoʻāʻo:

• Uila (EMG)
• Nā hoʻāʻo genetic
• ʻO Biopsy Muscle
• Serum CPK

ʻAʻohe lāʻau i ʻike ʻia no Duchenne muscular dystrophy. Mālama ka mālama ʻana i ka mālama ʻana i nā ʻōuli e hoʻomaikaʻi ai i ke ola.

Hiki i nā lāʻau steroid ke hoʻolohi i ka nalo ʻana o ka ikaika o nā mākala. Hoʻomaka paha lākou i ka wā e ʻike ʻia ke keiki a i ʻole ke hoʻomaka ke emi o ka ikaika o nā mākala.

Hiki i nā mālama ʻē aʻe ke:

• ʻO Albuterol, kahi lāʻau i hoʻohana ʻia no ka poʻe me ka hānō
• ʻAkika amino
• Carnitine
• ʻO Coenzyme Q10
• Leialoha
• ʻAilā iʻa
• Nā huki kī ʻōmaʻomaʻo
• ʻO Wikamina E

Eia naʻe, ʻaʻole i hōʻoia ʻia nā hopena o kēia mau ʻano hana. Hiki ke hoʻohana ʻia nā hunaola a me ka gen therapy i ka wā e hiki mai ana.

ʻO ka hoʻohana ʻana i nā steroid a me ka nele o ka hana kino hiki ke alakaʻi i ka loaʻa nui o ke kaumaha. Paipai ʻia ka hana. ʻO ka hana ʻole (e like me ka bedrest) hiki ke hōʻeha i ka maʻi muscle. Hiki i ke olakino olakino ke kōkua i ka mālama ʻana i ka ikaika a me ka hana o nā mākala. Pono pinepine ʻia ka haʻi ʻōlelo.

Hiki i nā mālama ʻē aʻe ke:

• Kōkua hoʻokomo (hoʻohana ʻia i ke ao a me ka pō)
• Nā lāʻau e kōkua ai i ka hana puʻuwai, e like me ka angiotensin e hoʻohuli nei i nā mea kūpale kino, nā beta blockers, a me nā diuretics
• ʻO nā mea hana Orthopedic (e like me nā mea paʻa a me nā noho huila) e hoʻomaikaʻi ai i ka neʻe
• ʻO ke kīʻaha Spine e mālama i nā scoliosis holomua no kekahi poʻe
• Nā mea kūpale Proton pump (no ka poʻe me ka reflux gastroesophageal)

Ke aʻo ʻia nei kekahi mau mālama hou i nā hoʻokolokolo.

Hiki iā ʻoe ke hoʻomāmā i ke koʻikoʻi o ka maʻi ma ke komo ʻana i kahi hui kākoʻo kahi e puʻunaue ai nā lālā i nā ʻike a me nā pilikia maʻamau. ʻO ka Muscular Dystrophy Association kahi kumu maikaʻi loa o ka ʻike e pili ana i kēia maʻi.

ʻO Duchenne muscular dystrophy e alakaʻi i ka hōʻemi holomua o ke kīnā. Kū pinepine ka make i ka makahiki 25, maʻamau mai nā maʻi maʻi. Eia naʻe, ʻo nā holomua i ke kākoʻo kākoʻo ua hopena i nā kāne e noho lōʻihi ana.

Komo pū nā pilikia:

• Cardiomyopathy (hiki ke hana ʻia i loko o nā halihali wahine, ʻo ia pū kekahi e nānā ʻia)
• Kōkua puʻuwai Congestive (rare)
• Nā hemahema
• Heart arrhythmias (laha ')
• Ka hoʻohaʻahaʻa noʻonoʻo (ʻano ʻokoʻa, ka liʻiliʻi maʻamau)
• Paʻa mau, kīnā o ka holomua, me ka hoʻemi ʻana i ka neʻe a me ka hoʻemi ʻana i ka hiki ke mālama iā ʻoe iho
• Poniaonia a i ʻole nā ​​maʻi hanu ʻē aʻe
• Hoʻoikaika hanu ʻole

Kāhea i kāu kahu mālama ola inā:

• He ʻōuli kāu keiki o Duchenne muscular dystrophy.
• Maikaʻi loa nā ʻōuli, a ulu paha nā ʻōuli hou, ʻo ia hoʻi ke kuni me ka ʻeha a me nā pilikia hanu.

Makemake paha ka poʻe me ka mōʻaukala ʻohana o ka maʻi e ʻimi i nā ʻōlelo aʻoaʻo kūlohelohe. ʻO nā haʻawina genetic i hana ʻia i ka wā o ka hāpai ʻana he pololei loa ia i ka ʻike ʻana iā Duchenne muscular dystrophy.

Pseudohypertrophic muscular dystrophy; Mustrular dystrophy - ʻano Duchenne

• Nā kīnā genes recessive X-pili - pehea ka hopena o nā keikikāne
• Nā kīnā genes recessive X-hoʻopili ʻia

ʻO Bharucha-Goebel DX. Nā maʻi maʻi muscular. 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 627.

Pūnaewele Muscular Dystrophy Association. www.mda.org/disease/duchenne-muscular-dystrophy. Loaʻa iā ʻOkakopa 27, 2019.

Selcen D. Nā maʻi maʻi. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 393.

ʻO Warner WC, Sawyer JR. Nā maʻi Neuromuscular. I: Azar FM, Beaty JH, Canale ST, hua. ʻO Campbell's Operative Orthopedics. 13th ed. Piladelapia, PA: Elsevier; 2017: chap 35.