Nā dystrophies muscular Limb-girdle

Limb-girdle muscular dystrophies e komo ma ka liʻiliʻi he 18 mau ʻano maʻi i hoʻoili ʻia. (Aia he 16 mau ʻano laha i ʻike ʻia.) Hoʻopili mua kēia mau maʻi i nā mākala a puni ke kāʻei poʻohiwi a me nā pūhaka. Hele a māhuahua kēia mau maʻi. ʻO ka hopena, pili paha ia i nā mākala ʻē aʻe.

ʻO ka Limb-girdle muscular dystrophies kahi hui nui o nā maʻi kūlohelohe kahi i nāwaliwali ai nā mākala a me ka ʻōpala (mustrular dystrophy).

I ka hapanui o nā hihia, pono nā mākua ʻelua e hoʻohele i ka ʻaoʻao hana ʻole (hemahema) no ke keiki e loaʻa ka maʻi (autosomal recessive hoʻoilina). I kekahi mau ʻano laha ʻole, hoʻokahi makua e pono e hele i ka ʻaoʻao hana ʻole e pili i ke keiki. Kāhea ʻia kēia ʻo ka hoʻoilina hoʻoilina autosomal. No 16 o kēia mau kūlana, ua ʻike ʻia ka ʻaoʻao hemahema. No kekahi poʻe, ʻaʻole ʻike ʻia ka ʻāpana.

ʻO kahi mea pilikia nui ka loaʻa ʻana o kahi lālā o ka ʻohana me ka mustrular dystrophy.

ʻO ka pinepine, ʻo ka hōʻailona mua ka nāwaliwali o nā mākala pelvic. ʻO nā laʻana o kēia ka pilikia e kū nei mai kahi noho me ka hoʻohana ʻole i nā lima, a i ʻole ka paʻakikī e piʻi i nā ʻanuʻu. Hoʻomaka ka nāwaliwali i ka wā kamaliʻi a hiki i ka makua ʻōpio.

ʻO nā ʻōuli ʻē aʻe e like me:

• ʻAno maʻamau, i kekahi manawa e ʻauamo ana, hele wāwae
• ʻO nā hui i hoʻopaʻa ʻia i kahi kūlana aelike (i ka hopena o ka maʻi)
• Nā bipi keiki nui a me nā muscular-nānā (pseudohypertrophy), ʻaʻole ikaika maoli
• Ka nalowale o ka nui o nā mākala, lahilahi o kekahi mau ʻāpana o ke kino
• ʻEha kua haʻahaʻa
• Palpitations a i ʻole nā ​​kilokilo hele
• Nawaliwali poohiwi
• Nāwaliwali o nā mākala i ka maka (ma hope o ka maʻi)
• Ka nāwaliwali i nā mākala o nā wāwae lalo, nā wāwae, nā lima lalo, a me nā lima (ma hope o ka maʻi)

E komo pū paha nā hoʻāʻo:

• ʻO nā pae kinase creatine koko
• ʻO ka hoʻāʻo ʻana iā DNA
• ʻO Echocardiogram a i ʻole ECG
• ʻO ka hoʻāʻo ʻana o Electromyogram (EMG)
• ʻO Biopsy Muscle

ʻAʻohe mea i ʻike ʻia e hoʻohuli i ka nāwaliwali o nā mākala. Hiki ke loaʻa i ka gen therapy i ka wā e hiki mai ana. Hiki i ke kākoʻo kōkua ke hōʻemi i nā pilikia o ka maʻi.

Mālama ʻia ke kūlana ma muli o nā hōʻailona o ke kanaka. Loaʻa iā ia:

• Nānā puʻuwai
• Kōkua hoʻoneʻe
• Hoʻoikaika kino
• Mālama hanu
• Kaohi kaupaona

Pono ka ʻoki ʻana i kekahi manawa no nā pilikia iwi a hui pū paha.

He waiwai maikaʻi loa ka Muscular Dystrophy Association: www.mda.org

Ma ke ʻano laulā, loaʻa i ka poʻe ka nāwaliwali e hele a lohi loa ai i nā ʻino a laha hoʻi.

ʻO ka maʻi ke kumu o ka nalowale o ka neʻe. Pili paha ke kanaka i ka noho huila ma waena o 20 a 30 mau makahiki paha.

Hiki i ka nāwaliwali o ka puʻuwai puʻuwai a me ka hana uila uila o ka puʻuwai ke hoʻonui i ka makaʻu no ka palpitations, maule ʻana, a me ka make koke. ʻO ka hapa nui o ka poʻe me kēia hui o nā maʻi e ola i ka wā makua, akā ʻaʻole i hiki i ko lākou ola holoʻokoʻa.

ʻO nā kānaka me ka limb-girdle muscular dystrophies e ʻike i nā pilikia e like me:

• Nā ritme naʻau maʻamau
• ʻO nā ʻaelike o nā hono
• Nā paʻakikī me nā hana o ka nohona o kēlā me kēia lā ma muli o ka nāwaliwali o ka poʻohiwi
• ʻO ka nāwaliwali holomua, kahi e alakaʻi ai i kahi noho huila e pono ai

Kāhea i kāu kahu mālama ola inā ʻike ʻoe a i ʻole paha he palupalu kāu keiki i ka wā e ala ana mai kahi kūlana squatting mai. Kāhea i kahi genistist inā ʻoe a i ʻole kekahi ʻohana i ʻike ʻia me ka mustrular dystrophy, a ke hoʻolālā nei ʻoe i kahi hāpai.

Hāʻawi ʻia kahi ʻōlelo aʻoaʻo genetic i nā kānaka pākī a me ko lākou mau ʻohana. ʻO ka hoʻokolohua molekole e pili ana i ke kaʻina genome holoʻokoʻa ma luna o nā mea maʻi a me ko lākou mau hoahānau e hoʻokau pono i ka ʻike. Hiki ke kōkua i ka ʻōlelo aʻoaʻo genetic i kekahi mau kāne a me nā ʻohana e aʻo e pili ana i nā pilikia a kōkua me ka hoʻolālā ʻohana. Hāʻawi pū kekahi ia i ka hoʻopili ʻana i nā mea maʻi me nā kākau maʻi a me nā hui ahonui.

Hiki ke pale ʻia kekahi o nā pilikia me ka lāʻau kūpono. ʻO kahi laʻana, hiki i kahi pacemaker cardiac a defibrillator paha ke hōʻemi nui i ka makaʻu no ka make koke ma muli o kahi puʻuwai puʻuwai maʻamau. Hiki paha i ka hoʻōla kino ke pale a hoʻolohi paha i nā ʻaelike a hoʻomaikaʻi i ka maikaʻi o ke ola.

Makemake paha ka poʻe i hoʻopilikia ʻia e hana panakō DNA. Paipai ʻia ka hoʻāʻo DNA no ka poʻe i hoʻopilikia ʻia. Kōkua kēia i ka ʻike i ka hoʻololi ʻana o ka ʻohana. Ke loaʻa ka hoʻololi, hiki ke hoʻokolohua DNA prenatal, ka hoʻāʻo ʻana no nā halihali, a me ka ʻike genetative implantation genetical i hiki.

Mustrular dystrophy - lālā-girdle ʻano (LGMD)

• Nā mākala mua ma mua

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.

ʻO Finkel RS, Mohassel P, Bonnemann CG. ʻO Congenital, kāʻei lālā a me nā mea ʻē aʻe mustrular dystrophies. I: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology. ʻElua huaʻōlelo Elsevier; 2017: chap 147.

Mohassel P, Bonnemann CG. Nā dystrophies muscular Limb-girdle. I: Darras BT, Jones HR, Ryan MM, DeVivo DC, eds. Nā maʻi Neuromuscular o ke pēpē, ka wā kamaliʻi, a me ka ʻōpio. ʻElua ed. Waltham, MA: Elsevier Academic Press; 2015: chap 34.