He nāwaliwali koʻu mau ʻiʻo ma kou mau poʻohiwi a me kou mau pūhaka? E kamaʻilio kākou e pili ana i ka Limb-Girdle Muscular Dystrophy (LGMD)!

Ke manaʻo nei ʻoe i kekahi manawa ua nāwaliwali iki kou mau poʻohiwi, lima, a i ʻole nā ​​ʻūhā? Ke paʻakikī nei iā ʻoe ke ala aʻe mai kahi noho a piʻi paha i ke alapiʻi? Ke manaʻo nei ʻoe i kekahi manawa ua nāwaliwali kou mau lima ke hāpai ʻoe i kahi mea kaumaha? ʻAʻole paha kēia he luhi kino wale nō. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi loa. Ua kapa ʻia kēia ʻo Limb-Girdle Muscular Dystrophy , a i ʻole LGMD no ka pōkole.

He aha ka Limb-Girdle Muscular Dystrophy (LGMD)?

I ka ʻōlelo maʻalahi, ʻo Limb-Girdle Muscular Dystrophy kahi huaʻōlelo laulā no kahi hui o nā maʻi hoʻoilina e hoʻonāwaliwali mālie ana i kekahi mau ʻiʻo i loko o ko kākou kino. He maʻi mau loa ia, ʻo ia hoʻi hiki ke mau i ke ola holoʻokoʻa. Hiki iā ia ke hoʻopilikia i kekahi o nā makahiki āpau.

ʻO nā "Limb beardes" nā iwi a puni ko mākou mau poʻohiwi a me nā pūhaka. E like me nā hono e hoʻopili ai i ko mākou mau lima a me nā wāwae i ko mākou kino. No laila, ma kēia kūlana "(LGMD)", ʻo nā ʻiʻo e pili ana i kēia mau wahi poʻohiwi a me ka ʻūhā ka mea i hoʻopilikia nui ʻia.

Ua lohe paha ʻoe i ka huaʻōlelo "muscular dystrophy." Pili ia i kahi hui o nā kūlana genetic e hoʻopilikia i ka hana o nā ʻiʻo. I ka hapa nui o nā ʻano "muscular dystrophy," e ʻoi aku ka ʻino o nā hōʻailona i ka hala ʻana o ka manawa.

Pehea ka maʻamau o kēia kūlana i kapa ʻia ʻo LGMD?

ʻO ka ʻoiaʻiʻo, he maʻi laha ʻole ka `(Limb-Girdle Muscular Dystrophy)`. E noʻonoʻo wale, ma kahi ʻāina e like me ʻAmelika, ke hoʻohui ʻoe i kēia mau ʻano `(LGMD)` āpau, hoʻopilikia wale ia i ʻelua mau kānaka no hoʻokahi haneli tausani. Inā ʻoe e hoʻohālikelike iā ia me ka `(Duchenne muscular dystrophy)` a mākou i ʻike ai a kamaʻilio hou aku (he ʻano `muscular dystrophy` kēia), hoʻopilikia ia i hoʻokahi i loko o 3600 mau keikikāne ma ʻAmelika. No laila, ʻoi aku ka liʻiliʻi o ka `(LGMD)` ma mua o kēlā.

Ma waena o kēia mau ʻano `(LGMD)`, ʻo ke ʻano maʻamau ma ʻAmelika Hui Pū ʻIa ʻo `(LGMD R1 calpain3-related)`. Ua kapa ʻia hoʻi kēia ʻo `(calpainopathy)`. Ma waena o 12% a me 30% o nā maʻi `(LGMD)` āpau no kēia ʻano.

He aha nā hōʻailona a mākou e ʻike nei?

ʻO nā hōʻailona nui o ka Limb-Girdle Muscular Dystrophy ka nāwaliwali o nā mākala a me ka nawaliwali ʻana o nā mākala a i ʻole ka atrophy . Hoʻopilikia nui kēia i:

• I nā poʻohiwi
• No nā lima o luna (ka ʻāpana o ko mākou lima mai ka poʻohiwi a i ke kuʻekuʻe)
• I ka ʻāpana ʻūhā
• No nā ʻūhā (ka ʻāpana o ko mākou mau wāwae mai ka ʻūhā a i ke kuli)

ʻO ka makahiki e hoʻomaka ai nā hōʻailona, ​​​​a me ka wikiwiki o kēia mau hōʻailona e holomua ai, hiki ke ʻokoʻa mai kekahi ʻano LGMD a i kekahi.

ʻO nā hōʻailona mua o kēia ʻano, ʻo ia ka paʻakikī i ka hele wāwae . Eia kekahi laʻana:

• Hiki ke ulu aʻe kahi hele wāwae ʻana, e like me ko ka ʻiole .
• Mai kahi e noho ai, e like me ka noho a i ʻole kahi noho luaHe paʻakikī ke ala aʻe .
• Ka paʻakikī o ka piʻi ʻana i nā alapiʻi .

Eia kekahi, i ka wā e nāwaliwali ai nā ʻiʻo ma nā poʻohiwi a me nā lima luna, hiki ke hana ʻia nā mea e like me kēia:

• Paʻakikī ke hiki ʻana ma luna o ke poʻo . E noʻonoʻo e like me ka lawe ʻana i kahi mea mai kahi papa.
• He mea paʻakikī ke kau i kou mau lima i mua ou .
• Ka hiki ʻole ke hāpai i nā mea kaumaha .
• Hiki i kekahi poʻe ke paʻakikī ke hoʻohana i ko lākou mau lima no ka ʻai ʻana .

Hiki i kekahi mau ʻano LGMD ke loaʻa nā ʻano hou aʻe ma waho aʻe o kēia mau mea. ʻO kekahi o lākou:

• Nā pilikia puʻuwai : No ka laʻana, nā mea e like me ka nāwaliwali o nā ʻiʻo o ka puʻuwai (cardiomyopathy), nā ʻano ʻino o ka conduction, a i ʻole nā ​​arrhythmias.
• Paʻakikī ka hanu ʻana .
• Ka paʻakikī i ka ale ʻana i ka meaʻai (dysphagia) .
• ʻO nā ʻaelike , ʻo ia hoʻi ka paʻakikī i ke kulou ʻana a me ka wehe ʻana i nā hono.
• ʻŌpū ʻiʻo .
• ʻO ka hypertrophy o nā ʻiʻo : I kekahi manawa, ʻoiai ua nāwaliwali nā ʻiʻo, hiki ke ʻike ʻia he nui aʻe mai waho.
• Ka nāwaliwali o nā ʻiʻo distal, e like me nā lima a me nā wāwae .

Hiki i kēia ke hoʻoulu i nā pilikia koʻikoʻi?

ʻAe, i kekahi manawa hiki i ka LGMD ke hana i kekahi mau pilikia. Akā, ʻaʻole like ia no nā kānaka a pau. Aia kekahi mau kumu e hiki ke hoʻopilikia iā ia:

• He aha ke ʻano o ka `(LGMD)` āu?
• I ka makahiki hea i hoʻomaka ai nā hōʻailona a pehea ka wikiwiki o ka holomua ʻana o ka maʻi.
• Nani ka maikaʻi o nā keʻena mālama olakino a me nā lawelawe hoʻokele hōʻailona i loaʻa iā ʻoe.

ʻO kekahi o nā pilikia e hiki ke loaʻa:

• Inā hoʻomaka ka LGMD i ka wā kamaliʻi, hiki iā ia ke alakaʻi i ka lohi i nā mākau motika nui e like me ka hele wāwae .
• Hiki i kekahi mau ʻano ke hoʻoulu i nā kīnā noʻonoʻo a me nā pilikia aʻo .
• Hiki ke ʻike ʻia ʻo Kyphosis a/a i ʻole scoliosis , ʻoiai ma LGMD e hoʻomaka ana i ka wā kamaliʻi.
• Hiki ke hoʻopilikia ʻia ka hana o ka māmā, e alakaʻi ana i ka maʻi māmā restrictive , malia paha ka lawa ʻole o ka hanu a i ʻole ka holomua ʻole o ka hanu .
• Hiki ke loaʻa ka nele i ka meaʻai ma muli o ka paʻakikī o ka ʻai ʻana a me ka moni ʻana.

No ke aha lā kēia e hana nei? He aha ke kumu?

ʻO ke kumu nui o ka Limb-Girdle Muscular Dystrophy, ʻo ia nā mutations i loko o nā genes.. ʻO kēia mau genes ke kuleana no ka mālama ʻana i ke ʻano a me ka hana olakino o nā ʻiʻo. No laila, i ka wā e loli ai kēia mau genes, ʻaʻole hiki i nā cell i manaʻo ʻia e mālama i nā ʻiʻo ke hana pono i kēlā hana. ʻO ka hopena, nāwaliwali mālie nā ʻiʻo i ka hala ʻana o ka manawa. Aia nā loli genetic kikoʻī e pili ana i kēlā me kēia ʻano `(LGMD)`.

Ua hoʻoilina ʻia kēia mau loli hoʻoilina mai ko kākou mau mākua mai. Ua māhele ʻia ʻo LGMD i ʻelua mau ʻāpana nui, ma muli o ke ʻano o ka hoʻoilina ʻana o nā genes:

• LGMD Hui D : Hana ʻia kēia ma ke ʻano i kapa ʻia ʻo "autosomal dominant inheritance." ʻO ke ʻano kēia, hiki i ka mutation genetic ke ulu aʻe e hoʻoulu ai i ka maʻi ʻoiai inā hoʻokahi makua wale nō ka mea i hoʻoilina.
• Pūʻulu LGMD R : Hana ʻia kēia ma ke ʻano i kapa ʻia ʻo "autosomal recessive inheritance." ʻO ke ʻano kēia, ʻo ka hoʻololi ʻana o ka genetic e hoʻoulu ai i ka maʻi e pono e hoʻoilina ʻia mai nā mākua ʻelua.

Aia kekahi mau ʻano like ʻole o LGMD?

ʻAe, aia kekahi mau ʻano like ʻole o ka `(Limb-Girdle Muscular Dystrophy)`. Hoʻohana nā kānaka noiʻi a me nā kauka i kahi ʻano inoa kūikawā e hoʻokaʻawale i kēia mau ʻano like ʻole. Aia ia i nā leka "LGMD" a me kekahi mau mea ʻē aʻe:

• Pehea i hoʻoilina ʻia ai nā genes : ʻO ka leka "D" ke kū nei no `(autosomal dominant inheritance)`. ʻO ka leka "R" ke kū nei no `(autosomal recessive inheritance)`.
• Ka Papa o ka ʻike ʻia ʻana : Hāʻawi nā kānaka noiʻi i kēia mau ʻano ʻano i kahi helu ma ke kaʻina i ʻike ʻia ai lākou.
• ʻO ka protein a i ʻole ka gene i hoʻopilikia ʻia : Ua hōʻike ʻia kēia ma ke ʻano he "[gene a i ʻole inoa protein]-related". No ka laʻana, `(calpain3-related)`.

Aia kekahi mau ʻano o kēia. He mea paʻakikī iki ka wehewehe ʻana i kēlā me kēia, no laila ʻaʻole mākou e hele i nā kikoʻī. Akā hiki i kāu kauka ke haʻi iā ʻoe i nā mea hou aʻe e pili ana i kēia.

Pehea e ʻike ai nā kauka i kēia?

Inā kānalua ʻia ʻoe a i ʻole kāu keiki he mau hōʻailona o Limb-Girdle Muscular Dystrophy, e hana paha ke kauka i kahi hoʻokolokolo kino , kahi hoʻokolokolo neurological , a me kahi hoʻokolokolo ʻiʻo . E nīnau lākou iā ʻoe e pili ana i kāu mau hōʻailona a inā paha ua loaʻa i kekahi o kou ʻohana kēia mau maʻi.

Inā manaʻo ʻoe he LGMD kou, hiki ke ʻōlelo ʻia kekahi a ʻoi aku paha o nā hoʻokolohua ma lalo nei:

• Hoʻāʻo koko Creatine kinase : Ke hōʻino ʻia nā ʻiʻo, hoʻokuʻu ʻia kahi enzyme i kapa ʻia ʻo "creatine kinase" i loko o ke koko. No laila, inā kiʻekiʻe kona pae, he hōʻailona paha ia o kahi maʻi i kapa ʻia ʻo "muscular dystrophy."
• Nā hoʻāʻo hoʻoilina : Hiki i kēia mau hoʻāʻo ke ʻike i nā loli hoʻoilina e pili ana me kekahi mau ʻano LGMD. ʻO kēia wale nō ke ala e hōʻoia pono ai i ka ʻano LGMD āu .
• ʻO ka biopsy ʻiʻoʻO kēia ka lawe ʻana i kahi hāpana liʻiliʻi o kou ʻiʻo ʻiʻo a me ka nānā ʻana o kahi loea ma lalo o kahi microscope. Hiki i kēia ke kōkua i ka hoʻoholo ʻana inā he mau hōʻailona kou o ka dystrophy muscular.
• Electromyography (EMG) : Ke ana kēia hoʻāʻo i ka hana uila o nā ʻiʻo a me nā aʻalolo.

Inā ʻike ʻia ʻoe a i ʻole kāu keiki me LGMD, e kauoha pinepine kāu kauka i nā hoʻokolohua hana puʻuwai a me ka pulmonary e nānā i ka hana maikaʻi o kou puʻuwai a me kou mau māmā. He mea nui e ʻike inā ua hoʻopilikia ke ʻano i kēlā mau ʻōpū.

He aha nā lāʻau lapaʻau?

ʻO ka mea kaumaha, ʻaʻohe lāʻau lapaʻau no Limb-Girdle Muscular Dystrophy i kēia manawa , akā ke hoʻomau nei nā kānaka noiʻi i ka hana ma ia mea.

ʻO ka pahuhopu nui o nā lāʻau lapaʻau o kēia manawa, ʻo ia ke kōkua i ka hoʻokele ʻana i nā hōʻailona a me ka hoʻomaikaʻi ʻana i ke ʻano o ke ola . Hiki ke ʻokoʻa nā koho lapaʻau ma muli o ke ʻano o LGMD āu. ʻO kekahi o lākou:

• Nā lāʻau lapaʻau kino a me ka hana : Kōkua nui kēia i ka hoʻoikaika ʻana i nā ʻiʻo a me ka hana ʻana i nā hoʻomaʻamaʻa hoʻolōʻihi. Kōkua lākou iā ʻoe e ʻike i nā ala e hana maʻalahi ai i nā hana o kēlā me kēia lā a mālama i ka neʻe ʻana.
• Corticosteroids : Hiki i nā Corticosteroids e like me prednisolone lāua ʻo deflazacort ke kōkua i ka hoʻolohi ʻana i ka nāwaliwali o nā ʻiʻo, hoʻomaikaʻi i ka hana o ka māmā, hoʻolohi i ka ʻeha o ke kua, a hoʻolohi i ka holomua o ka cardiomyopathy. Eia naʻe, ʻaʻole lākou e hana no nā ʻano LGMD āpau. He kōkua nui lākou no kekahi mau ʻano, e like me LGMD R9 FKRP-related.
• Nā mea kōkua neʻe : ʻO nā mea e like me ke koʻokoʻo, nā pale lima, nā mea hele wāwae, a me nā noho huila e maʻalahi ai ka hele wāwae a me ka hele ʻana a puni, kōkua i ka pale ʻana i ka hāʻule ʻana, a kōkua i ka hōʻemi ʻana i ka luhi.
• ʻOki kino : Pono paha kekahi mau maʻi LGMD i ke ʻoki kino e hōʻoluʻolu i ke koʻikoʻi ma nā ʻiʻo paʻa a hoʻoponopono i ka scoliosis.
• Mālama hanu : Hiki i nā mea kōkua i ke kuni a me nā mea hanu ke kōkua i ka maʻalahi o ka hanu ʻana. Inā loaʻa ka hāʻule nui o ka hanu ʻana, pono paha kahi tracheostomy (hana ʻana i puka ma ka ʻāʻī e kōkua i ka hanu ʻana) a me ke kōkua ʻana i ka ea.
• Mālama puʻuwai : ʻO nā lāʻau lapaʻau e like me nā ACE inhibitors a/a i ʻole nā ​​beta-blockers, inā hoʻomaka mua ʻia, hiki ke hoʻolohi i ka holomua o ka cardiomyopathy a pale i ka ulu ʻana o ka hāʻule ʻana o ka puʻuwai. Hiki i nā pacemakers ke kōkua i ka mālama ʻana i nā pilikia o ka puʻuwai a me ka hāʻule ʻana o ka puʻuwai.
• Hoʻōla ʻōlelo: Hiki ke kōkua kēia hoʻōla i ka poʻe pilikia i ka moni ʻana.
• Nā hoʻokolohua lapaʻau : Ma muli o ke ʻano o LGMD āu a me kou wahi e noho ai, loaʻa paha iā ʻoe ka manawa kūpono e komo i nā hoʻokolohua lapaʻau hou. Ke ulu nei ka nui o nā hoʻokolohua lapaʻau e hana nei no LGMD.

Pono pinepine ʻia kahi hui o nā loea e mālama i ka LGMD, no ʻoe a me kāu keiki. Hiki i kēia mau mea ke komo pū me nā neurologists, physiatrists, geneticists, orthopedists, physical therapists, occupational therapists, cardiologists, pulmonologists, psychologists, a me nā limahana hana kaiaulu.

He aha ka manaʻolana no kekahi me LGMD?

He mea paʻakikī i nā kānaka noiʻi a me nā kauka ke haʻi pololei i ke ʻano o ka wānana no kekahi me LGMD. Akā, e hāʻawi kāu hui lapaʻau iā ʻoe i ka ʻike e like me ka hiki e pili ana i ka mea e manaʻo ai.

ʻO ka maʻamau, inā hoʻomaka ka LGMD i ka wā kamaliʻi, ʻoi aku ka wikiwiki o ka maʻi a ʻoi aku ka nui o nā pilikia . Eia nō naʻe, inā hoʻomaka ka LGMD i ka wā ʻōpio a i ʻole ka wā makua, ʻoi aku ka liʻiliʻi o ka ʻino a lohi ka holomua o ka maʻi .

Pehea ka lōʻihi e hiki ai iā ʻoe ke ola me kēia?

ʻO ke ola maʻamau o kekahi me LGMD e hilinaʻi nui ʻia i ke ʻano o LGMD i loaʻa iā lākou a me ka wikiwiki o kona holomua ʻana . Ma keʻano laulā, ʻo ka poʻe me LGMD e loaʻa ana i nā pilikia, e like me ka maʻi puʻuwai a me nā pilikia hanu, ʻoi aku ka pōkole o ko lākou ola ma mua o ka poʻe me ka ʻole o ia mau pilikia.

Aia kekahi ala e pale aku ai i kēia?

No ka mea he maʻi hoʻoilina ka Limb-Girdle Muscular Dystrophy, ʻaʻohe mea hiki ke hana ʻia e pale aku ai i kēia manawa .

Inā ʻoe e hoʻolālā ana e loaʻa nā keiki a ke hopohopo nei ʻoe e hoʻoili paha ʻoe i ka LGMD a i ʻole nā ​​​​maʻi genetic ʻē aʻe, he mea maikaʻi ke kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo genetic .

Inā loaʻa iā ʻoe ʻo LGMD, aia kekahi mau mea hiki iā ʻoe ke hana e pale ai a hoʻopaneʻe paha i nā pilikia a hoʻomaikaʻi i kou ola maikaʻi:

• E ʻai i ka meaʻai maikaʻi a momona hoʻi e pale aku ai i ka ʻai ʻole.
• E inu i ka wai he nui e pale aku ai i ka dehydration a me ka constipation.
• E hana i nā hoʻoikaika kino māmā a kaulike e like me ka ʻōlelo a kāu hui lapaʻau.
• E mālama i ke kaumaha olakino .
• E pale i ka puhipaka no ka pale ʻana i kou mau māmā a me kou puʻuwai.
• E kiʻi i nā lāʻau pale i ka manawa kūpono .

Pehea e mālama ai au i kekahi me LGMD? A i ʻole he aha kaʻu e hana ai inā loaʻa iaʻu?

Inā loaʻa iā ʻoe ka Limb-Girdle Muscular Dystrophy, a inā ʻoe e mālama ana i kekahi me ia, he mea nui e kākoʻo a ʻimi i ka mālama olakino maikaʻi loa . ʻO ka hana ʻana pēlā e kōkua iā ʻoe e mālama i ke ʻano maikaʻi loa o ke ola.

Hiki iā ʻoe a me kou ʻohana ke komo i nā hui kākoʻo . E hāʻawi kēia iā ʻoe i ka manawa kūpono e hālāwai ai me nā poʻe ʻē aʻe i ʻike i nā mea like me ʻoe, e kamaʻilio me lākou, a e kaʻana like i nā manaʻo. He kumu ikaika nui ia.

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe ka Limb-Girdle Muscular Dystrophy, pono ʻoe e ʻike pinepine i kāu hui lapaʻau e loaʻa ka lāʻau lapaʻau a nānā i kāu mau hōʻailona.

Hiki ke paʻakikī ka hoʻomaopopo ʻana i kāu hōʻailona o ka Limb-Girdle Muscular Dystrophy (LGMD). Akā hiki i kāu hui lapaʻau ke kōkua iā ʻoe e hoʻomohala i kahi hoʻolālā hoʻokele i kūpono i kāu mau hōʻailona. ʻO ka mea nui loa, ʻo ia ka hōʻoia ʻana e loaʻa iā ʻoe ke kākoʻo āu e pono ai a e noho kālele ana i kou olakino . E hoʻomanaʻo, aia mau kāu hui lapaʻau ma laila e kōkua iā ʻoe a me kou ʻohana.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

ʻO ka Limb-Girdle Muscular Dystrophy (LGMD) kahi maʻi hoʻoilina e hoʻonāwaliwali mālie ai i nā ʻiʻo ma nā wahi poʻohiwi a me ka ʻūhā. ʻOiai he maʻi kakaikahi ia, he mea nui e makaʻala i nā hōʻailona.

• Nā hōʻailona nui : Ka nāwaliwali o nā ʻiʻo ma nā poʻohiwi, nā lima o luna, nā pūhaka, a me nā ʻūhā, ka paʻakikī i ka hele wāwae, a me ka hiki ʻole ke hāpai i nā mea kaumaha.
• Kumu : Nā ʻokoʻa hoʻoilina.
• Lapaʻau : ʻAʻohe lāʻau lapaʻau i kēia manawa. ʻO ka pahuhopu ka hoʻokele ʻana i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola. He mea nui ka hoʻōla kino, ka hoʻōla hana, a, inā pono, nā lāʻau lapaʻau a me nā mea hana.
• ʻO ka mea nui loa : ka ʻike mua ʻana, ka ʻōlelo aʻoaʻo lapaʻau kūpono a me ka mālama ʻana. He mea nui loa nō hoʻi ke kākoʻo ʻohana a me nā hui kākoʻo.

Inā he mau nīnau hou aku kāu e pili ana i kēia, mai makaʻu e kamaʻilio me kāu kauka. E kōkua lākou iā ʻoe.

ʻO ka dystrophy muscular limb-girdle, LGMD, nāwaliwali o nā ʻiʻo, nā maʻi genetic, ʻeha poʻohiwi, ʻeha ʻūhā, lāʻau lapaʻau, muscular dystrophy sinhala, hoʻopau ʻana o nā ʻiʻo