Ua ʻike anei ʻoe ua ʻoi aku ka paʻakikī o kekahi mau keiki a ʻōpio paha i ka hele wāwae, holo, a piʻi paha i nā alapiʻi ma mua o nā poʻe ʻē aʻe? A i ʻole ua manaʻo paha ʻoe e nāwaliwali mālie ana ko lākou mau ʻiʻo? Malia paha ke kumu o kēia ʻo ke kūlana a mākou e kamaʻilio ai i kēia lā, i kapa ʻia ʻo `(Becker Muscular Dystrophy)`. Mai hopohopo, e wehewehe kākou i nā mea āpau ma nā ʻōlelo maʻalahi.
He aha ka `(Becker Muscular Dystrophy)`? I ka ʻōlelo maʻalahi loa...
ʻO ka `(Becker Muscular Dystrophy)`, i ʻike ʻia hoʻi ʻo `(BMD)` no ka pōkole, he maʻi hoʻoilina laha ʻole ia. ʻO ka mea e hana ʻia, ʻo ia ka nāwaliwali mālie ʻana o nā ʻiʻo o ke kino a emi iho kā lākou hana. I ka pololei, he maʻi hoʻoilina kēia. Hoʻopilikia nui kēia maʻi i nā keikikāne a me nā kāne. ʻO ke kumu o kēia, ʻo ia ka `(X-linked inheritance)`, ʻo ia hoʻi, ua hoʻoilina ʻia mai ka makuahine (inā he mea lawe ʻo ia) i ke keiki kāne.
Hoʻomaka pinepine kēia nāwaliwali o nā ʻiʻo i kou mau wāwae a me nā pūhaka, a i ka hala ʻana o ka manawa, hiki iā ia ke laha i kou mau lima o luna, ʻo ia hoʻi kou kino o luna.
ʻO nā ʻano dystrophy muscular i ʻike ʻia i kēia manawa, ʻo BMD paha ke kolu o ke ʻano maʻamau i waena o nā pākeke, ma hope o ka myotonic dystrophy a me ka facioscapulohumeral dystrophy.
He aha ka ʻokoʻa ma waena o ka `(Becker Muscular Dystrophy)` a me ka `(Duchenne Muscular Dystrophy)`?
Ua lohe paha ʻoe i kahi maʻi i kapa ʻia ʻo `(Duchenne Muscular Dystrophy)` a i ʻole `(DMD)`. ʻO nā `(BMD)` a me `(DMD)` i hoʻokumu ʻia e nā mutations i loko o ka gene hoʻokahi, ʻo ia hoʻi, ka gene e code no kahi protein i kapa ʻia ʻo `(dystrophin). He mea nui loa kēia protein i kapa ʻia ʻo `(dystrophin)` no ke olakino o ko kākou mau ʻiʻo.
Akā eia ka ʻokoʻa:
- ʻAneʻane ʻaʻohe protein dystrophin i loko o ke kanaka me DMD i loko o ko lākou ʻiʻo.
- Aia kekahi dystrophin i loko o nā ʻiʻo o ke kanaka me BMD, akā ʻaʻole lawa.
No laila, ʻoi aku ka liʻiliʻi o ke koʻikoʻi o ke kūlana `(BMD)` ma mua o `(DMD)`, a ʻoi aku ka lohi o ka ʻike ʻia ʻana o nā hōʻailona a me ka holomua ʻana ma mua o `(DMD)`. Eia nō naʻe, ua like like nā hōʻailona no nā mea ʻelua.
ʻO wai ka mea i hoʻopilikia nui ʻia e kēia maʻi (Becker Muscular Dystrophy)?
E like me kā mākou i ʻōlelo ai ma mua, pili nui ka BMD i nā kāne. Eia nō naʻe, hiki i nā wahine e lawe ana i ka BMD (ʻo ia hoʻi, ka poʻe e lawe ana i ka gene e hoʻoulu ai i ka maʻi akā ʻaʻole hōʻike i nā hōʻailona) ke loaʻa i kekahi manawa nā hōʻailona. Eia naʻe, ʻaʻole lākou i koʻikoʻi loa, a he akahai loa.
ʻO ka hapa pinepine, hoʻomaka nā hōʻailona ma waena o nā makahiki 5 a me 15. Eia nō naʻe, hiki i kekahi poʻe ke ʻike i nā hōʻailona ma hope.
Pehea ka maʻamau o ka `(Becker Muscular Dystrophy)`?
He mea laha ʻole ka BMD.Hoʻopilikia kēia maʻi ma waena o 3 a me 6 o kēlā me kēia 100,000 pēpē i hānau ʻia. A e like me kā mākou i ʻōlelo ai, ʻo nā keikikāne ka mea nui loa e hoʻopilikia ai.
He aha nā hōʻailona o ka `(Becker Muscular Dystrophy)`?
Hoʻomaka pinepine nā hōʻailona o ka BMD ma waena o nā makahiki 5 a me 15, akā hiki ke ʻike ʻia ma hope. ʻO ka mea e hana ʻia, ʻo ia ka nāwaliwali o nā ʻiʻo e hoʻonui mālie i ka hala ʻana o ka manawa. No laila, ʻo nā hōʻailona maʻamau:
- Ka paʻakikī o ka piʻi ʻana i nā alapiʻi.
- Ka paʻakikī o ka hele wāwae, a me ka paʻakikī e piʻi aʻe ana i ka hala ʻana o ka manawa.
- Ka emi ʻana o ka hiki ke hoʻoikaika kino (manaʻo luhi ʻoiai me ka hoʻoikaika iki ʻana).
- ʻEha nā ʻiʻo a me/a i ʻole ka ʻūlū ʻana o nā ʻiʻo (e like me ka ʻūmiʻi).
- Hāʻule pinepine.
- Ka hele wāwae.
- Luhi mau ka manaʻo (Fatigue).
E noʻonoʻo, inā ʻaʻole kāu keiki e holo a pāʻani ana e like me ka wā ma mua, a ʻōlelo ʻo "Māmā, ua luhi au" ʻoiai ma hope o ka hele wāwae ʻana no kekahi manawa, a inā luhi koke ʻo ia ma mua o nā keiki ʻē aʻe i ka wā e pāʻani ana ma ke kula, he manaʻo maikaʻi ke hopohopo iki no ia mea.
Ma waho aʻe o kēia, hiki i ka BMD ke hana i nā hōʻailona ʻē aʻe:
- Cardiomyopathy : He mea kēia e makaʻala ai.
- Paʻakikī ka hanu ʻana.
- ʻOkoʻa kekahi mau ʻokoʻa i ke aʻo ʻana (e like me ka lōʻihi o ka manawa e hoʻomaopopo ai i kekahi mau mea ma mua o nā mea ʻē aʻe).
- Ka nalowale ʻana o ke kaulike a me ka hoʻonohonoho ʻana o ke kino.
ʻO nā wahine lawe no BMD he cardiomyopathy wale nō a i ʻole ka nāwaliwali o nā ʻiʻo liʻiliʻi loa. Ua manaʻo ʻia ma kahi o 22% o nā mea lawe e loaʻa nā hōʻailona, akā ʻokoʻa loa kēia mai kēlā kanaka a i kēia kanaka.
He aha ke kumu o ka `(Becker Muscular Dystrophy)`?
He maʻi hoʻoilina ka BMD. Hoʻokumu ʻia ia e kahi mutation i loko o ka gene e code no kahi protein i kapa ʻia ʻo dystrophin. He mea nui ka Dystrophin no ka mālama ʻana i nā ʻiʻo i loko o ko mākou kino i ikaika a paʻa.
No laila, i ka wā e loli ai kēia gene `(dystrophin)`, ʻaʻole paha i hana ʻia ka protein `(dystrophin)`, a i ʻole ua emi nui ka nui i hana ʻia. ʻO ka hopena, i ka hala ʻana o ka manawa, ua nāwaliwali nā ʻiʻo a hoʻomaka e hōʻino ʻia.
Pehea i hoʻoilina ʻia ai ʻo Becker Muscular Dystrophy? He mea kēia e pono ai ʻoe e hoʻomaopopo iki!
Ua hoʻoilina ʻia ʻo `(BMD)` ma ke ʻano i kapa ʻia ʻo `(X-linked recessive inheritance)`. I kēia manawa, e hoʻomaopopo maʻalahi kākou i kēia.
- ʻO ke ʻano o ka hoʻopili ʻia ʻana o X , aia ke gene kuleana no BMD ma ka chromosome X. E like me kou ʻike, loaʻa iā mākou ʻelua mau chromosome moe, ʻo X a me Y.
- ʻO ke ʻano o ka recessive , i mea e hiki ai i kēia maʻi, pono i nā kope ʻelua o ka gene pili (loaʻa iā mākou ʻelua kope o ka aneane kēlā me kēia gene) kahi ʻano pathogenic a i ʻole mutation e hoʻoulu ai i ka maʻi.
Akā eia ka mea nui loa:
- Hoʻokahi chromosome X ko nā kāne (XY) . No laila, inā he kīnā i loko o ka gene pili ma kēlā chromosome X hoʻokahi, ua lawa ia e hana ai i ka `(BMD)`.
- Loaʻa i nā wāhine ʻelua mau chromosome X (XX) . No laila, no ka loaʻa ʻana o kahi maʻi recessive X-linked, pono nā kope ʻelua o ka gene i hemahema. Eia nō naʻe, ʻo nā wāhine i loaʻa ka gene hemahema ma hoʻokahi chromosome X wale nō i kapa ʻia he "mau mea lawe." ʻO ka hapa nui o ka manawa, ʻaʻole hōʻike kēia mau mea lawe i nā hōʻailona. Eia nō naʻe, he mea kakaikahi loa, hiki ke loaʻa nā hōʻailona ʻoluʻolu a kaulike paha.
I kēia manawa, e nānā pehea e iho ai kēia i nā hanauna:
- No ka makuahine he mea lawe (he gene kīnā ma kekahi chromosome X) :
- Inā hānau ʻia he keikikāne, aia he 50% ka manawa e loaʻa ai i ke keikikāne ke ʻano `(BMD)`.
- Inā he kaikamahine kāu, aia he 50% ka manawa e lilo ai ʻo ia i mea lawe.
- No kahi makuakāne me ke kūlana (BMD) :
- ʻAʻole hiki iā ia ke hoʻoili i kēia maʻi i kāna mau keikikāne (no ka mea, hoʻoili ka makuakāne i ka chromosome Y i ke keiki kāne).
- Akā, e lilo kāna mau kaikamahine a pau i mau mea lawe (no ka mea, hāʻawi ka makuakāne i ke kaikamahine i ka chromosome X kīnā).
Maopopo iā ʻoe? He mea paʻakikī iki paha kēia, akā i ka ʻōlelo maʻalahi, ʻoi aku ka nui o ka loaʻa ʻana o kēia mai ke keikikāne mai kona makuahine, inā he mea lawe ka makuahine.
Pehea e ʻike ʻia ai ka maʻi ʻo Becker Muscular Dystrophy?
Inā kānalua ʻia ʻoe a i ʻole kāu keiki he BMD, e hana paha kāu kauka i kahi hoʻokolohua kino, kahi hoʻokolohua neurological, a me kahi hoʻāʻo ʻiʻo. E nīnau pū lākou iā ʻoe e pili ana i kāu mau hōʻailona a me kou mōʻaukala olakino, me ka loaʻa ʻana o kekahi o kou ʻohana i nā kūlana like.
I loko o kēia mau hoʻokolohua, ʻike paha ke kauka i nā mea e like me:
- Ua emi nā ʻiʻo o nā wāwae a me nā pūhaka.
- ʻOiai paha e ʻike ʻia nā ʻiʻo ma ka ʻāpana ʻūhā he nui i ka nānā mua ʻana (ua kapa ʻia kēia he "pseudohypertrophy" ), ua nāwaliwali maoli lākou. Me he mea lā ua pehu wale lākou mai loko mai.
- ʻO ke kūlou ʻana o ka iwi kuamoʻo (scoliosis) a me kekahi mau kīnā o ka umauma.
- Nā ʻano ʻino o nā ʻiʻo, no ka laʻana, ka paʻa mau ʻana o nā ʻiʻo, nā tendon, a me ka ʻili ma nā kuʻekuʻe wāwae a me nā wāwae (contractures) .
He aha nā hoʻokolohua e hoʻohana ʻia no ka ʻike ʻana i ka `(Becker Muscular Dystrophy)`?
Inā manaʻo kāu kauka he BMD kou a i ʻole kāu keiki, hiki iā lākou ke ʻōlelo i nā hoʻokolohua aʻe:
- Hoʻāʻo koko Creatine kinase: Ke hōʻino ʻia nā ʻiʻo, hoʻokuʻu lākou i kahi enzyme i kapa ʻia ʻo creatine kinase i loko o ke koko. Hiki i ke kanaka me BMD ke loaʻa i kahi pae o kēia creatine kinase ʻelima mau manawa a ʻoi aku paha ma mua o ka maʻamau.
- Hoʻāʻo koko genetic: ʻO kēia hoʻāʻo genetic, kahi e nānā ai i kahi mutation i loko o ka gene Dystrophin, hiki ke hoʻomaopopo pono i ka BMD.
Inā ua hōʻoia ʻia ʻoe a i ʻole kāu keiki he BMD, hiki i kāu kauka ke ʻōlelo aku i kahi Electrocardiogram (EKG) a i ʻole Echocardiogram e nānā i nā pilikia ʻiʻo puʻuwai i hiki ke hoʻokumu ʻia e BMD.
Pehea e mālama ʻia ai ka Becker Muscular Dystrophy?
ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no BMD i kēia manawa. No laila, ʻo ka pahuhopu nui o ka mālama ʻana, ʻo ia ke kāohi i nā hōʻailona a mālama i ke ʻano maikaʻi loa o ke ola.
ʻElua mau lāʻau lapaʻau nui no BMD:
1. Corticosteroids: No ka laʻana, nā lāʻau lapaʻau e like me prednisolone. Kōkua kēia i ka hoʻomaikaʻi ʻana i ka hana o ka māmā, hoʻolohi i ka ulu ʻana o ka scoliosis, hoʻolohi i ka ulu ʻana o ka cardiomyopathy, a hoʻolōʻihi i ke ola.
2. Hoʻōla hou ʻana: Kōkua kēia i ka mea maʻi e mālama i ko lākou hiki ke hana no ka manawa lōʻihi a hoʻomaikaʻi i ko lākou ola.
- Kōkua ka hoʻoikaika kino i ka hoʻoikaika ʻana i nā ʻiʻo.
- Hiki i ka hoʻoponopono ʻōlelo, ka hoʻoponopono hana, a me ka hoʻoponopono leʻaleʻa ke kōkua i nā hana o kēlā me kēia lā.
Ma waho aʻe o kēia, aia kekahi mau lāʻau ʻē aʻe e hiki ke kōkua me BMD:
- Nā mea kōkua neʻe no nā mea e like me ka hele wāwae - e.g. koʻokoʻo, nā noho huila, nā pale lima.
- Nā lāʻau lapaʻau no ka `(Cardiomyopathy)` - e.g. `(ACE inhibitors)` a me `(beta-blockers)` .
- ʻO ke ʻoki kino e kōkua ai i ka scoliosis a me nā contractures.
- Inā lilo ka pilikia hanu i mea koʻikoʻi (ka hemahema o ka hanu ʻana) , pono paha ka tracheostomy (kahi hana ʻoki e wehe ai i ka trachea) a me ka hanu hana.
ʻO ka mea pōmaikaʻi, aia kekahi mau lāʻau lapaʻau hou e hiki ke mālama i ka BMD i nā hoʻokolohua lapaʻau, a hiki iā mākou ke manaʻo i nā hopena maikaʻi mai iā lākou i ka wā e hiki mai ana.
Hiki ke pale ʻia ka Becker Muscular Dystrophy?
ʻOiai he maʻi hoʻoilina ka BMD, ʻaʻohe mea hiki iā mākou ke hana e pale aku ai.
Eia nō naʻe, inā loaʻa iā ʻoe ka BMD, a inā hopohopo ʻoe e loaʻa paha iā ʻoe ka BMD a i ʻole kekahi ʻano genetic ʻē aʻe, e kamaʻilio me kāu kauka e pili ana i ia mea ma mua o kou loaʻa ʻana o nā keiki.He mea maikaʻi loa ke ʻimi ʻana i ke aʻoaʻo genetic.
He aha ka wānana no ka Becker Muscular Dystrophy?
Hiki ke ʻokoʻa ke ʻano o ka nānā ʻana no kekahi kanaka me BMD mai kēlā kanaka a kēia kanaka. He holomua mālie kēia o ke kīnā. Eia nō naʻe, ʻokoʻa ke koʻikoʻi o ke kīnā. Pono paha kekahi poʻe i kahi noho huila, aʻo kekahi poʻe e pono wale nō e hoʻohana i nā mea kōkua hele wāwae (nā koʻokoʻo, nā lāʻau koʻokoʻo).
Eia nō naʻe, inā loaʻa i kekahi me ka "(BMD)" ka maʻi puʻuwai a i ʻole nā pilikia hanu, hiki ke hoʻopōkole ʻia ko lākou ola.
ʻO nā pilikia e hiki mai ana ma muli o BMD:
- Nā pilikia o ka puʻuwai, ʻoiai hoʻi ka '(Cardiomyopathy)'.
- Nā pilikia hanu i hoʻokumu ʻia e ka nāwaliwali o nā ʻiʻo hanu.
- ʻO ka niumonia a i ʻole nā maʻi hanu ʻē aʻe.
- I ka hala ʻana o ka manawa, piʻi aʻe ke kino kīnā a lilo ke kanaka i mea hiki ʻole ke hana i kā lākou hana me ke kūʻokoʻa.
- Nā haki iwi.
He aha ke ola o kekahi me ka `(Becker Muscular Dystrophy)`?
ʻO ka manaʻolana ola o ke kanaka me ka "BMD" he mea maʻamau ia e hoʻopōkole iki ʻia. ʻO ia hoʻi, ma waena o 40 a me 50 mau makahiki. ʻO ka "Dilated cardiomyopathy" (kahi kūlana e nāwaliwali ai a hoʻonui ʻia ai ka ʻiʻo puʻuwai) ke kumu nui o ka make.
Pehea wau e mālama ai i kekahi me `(BMD)`? A i ʻole pehea wau e mālama ai iaʻu iho?
Inā loaʻa iā ʻoe ka BMD, he mea nui e loaʻa ka mālama olakino maikaʻi e pale ai a mālama paha i nā pilikia o ka BMD, e like me ka maʻi puʻuwai a me nā pilikia hanu. Hiki nō hoʻi ke kōkua i ka hui ʻana i kahi hui kākoʻo kahi e hiki ai iā ʻoe ke kaʻana like i kāu mau ʻike a hui me nā poʻe ʻē aʻe e hoʻomaopopo iā ʻoe.
Inā ʻoe e mālama ana i kekahi me BMD, he mea nui e hōʻoia i ka loaʻa ʻana o ka mālama olakino maikaʻi loa, nā mea kōkua hele wāwae a lākou e pono ai, a me nā lāʻau lapaʻau e kōkua iā lākou e hana kūʻokoʻa. ʻO ʻoe ka mea e pono e lilo i mea kākoʻo no lākou.
Āhea wau e ʻike ai i ke kauka e pili ana i ka `(Becker Muscular Dystrophy)`?
Inā ua ʻike ʻia ʻoe (a i ʻole kāu keiki) me Becker Muscular Dystrophy, he mea nui loa ia e ʻike pinepine i kāu hui lapaʻau no ka mālama ʻana a e nānā i kāu mau hōʻailona.
Ua ʻike mākou ʻaʻole maʻalahi ka hoʻomaopopo a me ka mālama ʻana i kahi maʻi e like me Becker Muscular Dystrophy. Hiki ke lilo i mea kaumaha. E hāʻawi kāu hui lapaʻau iā ʻoe i kahi hoʻolālā hoʻokele paʻa i kūpono i kāu mau hōʻailona. He mea nui e hōʻoia i ka loaʻa ʻana o ke kākoʻo āu e pono ai a me ka mālama ʻana i kou olakino.
I ka hōʻuluʻulu manaʻo, nā mea e pono ai mākou e hoʻomanaʻo (Leka Lawe-Home)
ʻAe, eia kekahi mau mea maʻalahi e hoʻomanaʻo e pili ana i ka `(Becker Muscular Dystrophy)` a i ʻole `(BMD)` a mākou i kamaʻilio ai:
- He maʻi hoʻoilina ka ``(BMD)`` i hoʻoili ʻia i nā hanauna. Ma kēia, nāwaliwali mālie nā ʻiʻo.
- ʻO kēiaʻOi aku ka hopena o ia i nā kāne.
- ʻO ke kumu he kīnā i loko o ka gene e hana ai i ka protein "dystrophin".
- Hoʻomaka pinepine nā hōʻailona i ka wā kamaliʻi (ma waena o 5 a me 15 mau makahiki). ʻO ka paʻakikī o ka hele wāwae, ka luhi, a me ka hāʻule pinepine ʻana.
- ʻO ka Cardiomyopathy (maʻi ʻiʻo puʻuwai) a me ka pilikia hanu paha nā pilikia nui o kēia maʻi.
- ʻAʻohe lāʻau lapaʻau no kēia maʻi i kēia manawa. Eia nō naʻe, aia nā ʻano lāʻau like ʻole e loaʻa ana e kāohi i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola (e laʻa me nā corticosteroids, ka hoʻōla kino).
- Inā loaʻa kēia maʻi i kekahi o ka ʻohana, he mea naʻauao ke ʻimi i ka ʻōlelo aʻoaʻo genetic ma mua o ka loaʻa ʻana o kahi keiki.
- He mea nui loa nō hoʻi e ʻimi i ke aʻo lapaʻau a me ka mālama ʻana i kēlā me kēia manawa, a e noho ikaika hoʻi i ka noʻonoʻo.
Mai poina, ʻaʻole ʻoe hoʻokahi. Ke hele nei ʻoe i kēia, e ʻimi i ke kōkua mai nā kauka, ka ʻohana, nā hoaaloha, a me nā hui kākoʻo. He kumu ikaika nui ia nou!
ʻO ka dystrophy muscular Becker, BMD, nāwaliwali o nā ʻiʻo, nā maʻi genetic, dystrophin, X-linked, nā hoʻololi gene, olakino keiki, maʻi puʻuwai, lāʻau lapaʻau kino
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