Me he mea lā ua make kāu keiki liʻiliʻi? E aʻo kākou e pili ana i kēia (Congenital Muscular Dystrophy - CMD)!

Ke manaʻo nei anei kāu pēpē hānau hou i ka palupalu loa, me he mea lā ua make ʻo ia? Malia paha he palupalu loa ka uē ʻana o ke pēpē, a ke neʻe iki nei kona mau lālā? Inā ʻike ʻoe i kahi mea e like me kēia, pono ʻoe e hopohopo iki. No ka mea, he hōʻailona paha ia o kahi maʻi ʻiʻo laha ʻole i kapa ʻia ʻo `(Congenital Muscular Dystrophy)`, a i ʻole `(CMD)` no ka pōkole, aia i ka wā hānau.

He aha ka `(Congenital Muscular Dystrophy - CMD)`?

I ka ʻōlelo maʻalahi, ʻo Congenital Muscular Dystrophy kahi hui o nā maʻi e hoʻoulu ai i ka nāwaliwali o nā ʻiʻo e hoʻomaka ana i ka wā hānau a i ʻole ma hope koke iho o ka hānau ʻana. ʻO ka huaʻōlelo 'congenital' ʻo ia hoʻi 'aia mai ka hānau ʻana'. He maʻi mau kēia i hoʻoilina ʻia, ʻo ia hoʻi hiki ke hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. ʻO kēia ke kumu e nāwaliwali mālie ai nā ʻiʻo, a hiki ke ʻike ʻia nā hōʻailona ʻē aʻe. Hiki ke hoʻonui ʻia kēia nāwaliwali o nā ʻiʻo i ka hala ʻana o ka manawa.

He aha nā ʻano nui o `(CMD)`?

I kēia manawa, e nānā kākou, aia nā ʻano like ʻole o kēia `(CMD)`. Hoʻokaʻawale nā ​​kauka i kēia mau ʻano e like me nā genes i hoʻopilikia ʻia. E kamaʻilio kākou e pili ana i kekahi mau ʻano nui:

• ʻO nā dystrophies muscular e pili ana i ka Laminin-alpha 2 (LAMA2): Hiki i kēia ke hoʻopilikia ma waena o 10% a me 37% o ka poʻe me CMD. ʻAʻole hiki i nā keiki me kēia maʻi ke hele wāwae i nā pae mua. Hiki iā lākou ke pilikia i ka ʻōlelo ʻana ma muli o ka nāwaliwali o ka maka a me ke alelo i hoʻonui ʻia (macroglossia). Ma kahi o hoʻokahi hapakolu o nā keiki e loaʻa paha i nā ʻōʻō.
• ʻO Dystroglycanopathies (DGPs): Loaʻa pū kēia i 12% a 25% o nā hihia. Ma waho aʻe o ka nāwaliwali o nā ʻiʻo, hiki i kēia ʻano ke hoʻopilikia i ka lolo o kāu pēpē. Hiki i kēia ke hana i nā hopu ʻana, nā kīnā noʻonoʻo, a me nā pilikia maka. ʻO nā ʻano ʻē aʻe o kēia hui e komo pū ana me Walker-Warburg syndrome, ka maʻi ʻiʻo-maka-lolo, a me Fukuyama CMD (FCMD), ka mea maʻamau ma Iapana.
• ʻO nā dystrophies muscular e pili ana i ka Collagen VI (COL6-RDs): Loaʻa pū kēia i 12% a 19% o nā hihia. Aia nā ʻano ʻano like ʻole mai ka ʻoluʻolu a i ka koʻikoʻi, e like me ka Bethlem muscular dystrophy, intermediate COL6-RD, a me Ullrich congenital muscular dystrophy (UCMD).
• ʻO nā myopathies pili i ka Selenoprotein N (SEPN1-RM): Hana ʻia kēia ma kahi o 11% o nā hihia. Hōʻike ʻia ia e ka nāwaliwali o nā ʻiʻo i ka wā mua e hoʻopilikia ana i nā ʻiʻo o ke poʻo a me ke kino (i kapa ʻia ʻo nā ʻiʻo axial). Hiki i kēia ke alakaʻi koke i ka lawa ʻole o ka hanu.

Pehea ka maʻamau o kēia kūlana `(CMD)`?

He maʻi laha ʻole kēia. Wahi a nā kānaka noiʻi, hoʻopilikia ia ma waena o 6 a me 9 mau keiki mai loko mai o hoʻokahi miliona a puni ka honua.

He aha nā hōʻailona o ka `(CMD)`?

ʻAe, he aha nā hōʻailona o kahi pēpē me ka `(CMD)`? ʻO ka mea nui, ʻo ia ka nāwaliwali o nā ʻiʻo. Hiki iā ʻoe ke ʻike i nā mea e like me kēia i ka wā hānau a i ʻole kekahi mau lā ma hope o ka hānau ʻana:

• Hypotonia: Ua kapa pū kekahi poʻe i kēia he ʻano 'pēpē'. Manaʻo paha ia e like me ke kau ʻana o nā lālā i lalo.
• He mea kākaʻikahi loa ka hoʻoluliluli ʻana i kou mau lālā me ka manaʻo ʻole.
• Lohi loa a nāwaliwali hoʻi ke kani o ka uē ʻana.
• He paʻakikī ke inu waiū ma muli o ka paʻakikī o ka omo ʻana.
• ʻO ka paʻakikī o nā ʻiʻo a me nā hono, nā ʻaelike.

Ma hope koke iho o ka hānau ʻana, ʻo ka ulu ʻana o ka pēpē i nā mākau neʻe nui (nā mea e pili ana i nā ʻiʻo nui) he hōʻailona nō hoʻi ia o CMD. Eia kekahi laʻana, ka lohi o ka ulu ʻana o ka ʻāʻī, ka lohi o ka ʻōwili ʻana, a me ka lohi o ka noho ʻana, ke kukuli ʻana, ke kū ʻana, a me ka hele ʻana. Eia kekahi laʻana, inā e hakakā nei kāu pēpē e hana i kēlā mau mea ʻoiai nā pēpē ʻē aʻe o ka makahiki like e holo ana, lele ana, a pāʻani ana, he mea ia e noʻonoʻo ai.

Hiki ke ʻokoʻa ke koʻikoʻi o kēia nāwaliwali o nā ʻiʻo mai kēlā pēpē a i kēia pēpē. Ma muli o ke ʻano o ka `(CMD)`, hiki i kāu pēpē ke loaʻa nā hōʻailona ʻē aʻe e like me:

• Nā pilikia maka: No ka laʻana, ka ʻike maka kokoke (myopia), ka piʻi ʻana o ke kaomi maka (glaucoma).
• Ke kulou ʻana o ka lihilihi o luna (ptosis).
• Nā ʻano ʻino o ka lolo: e like me ka lissencephaly (ka hoʻomālielie ʻana o ka ʻili o ka lolo) a i ʻole nā ​​malformations cerebellar (deformities o ka cerebellum).
• Nā ʻōʻili.
• Ke kīnā noʻonoʻo.

He aha nā pilikia e hiki mai ana o ka `(CMD)`?

He aha nā pilikia e hiki mai ana o `(CMD)`? ʻOkoʻa nō hoʻi kēia ma muli o ke ʻano o `(CMD)`. Akā ma ke ʻano laulā, hiki ke hana ʻia nā mea e like me kēia:

• Nā pilikia neʻe: ʻAʻole hiki i kekahi mau keiki ke hele wāwae a pono paha i kahi noho huila. Pono paha kekahi i nā mea kōkua e like me nā pale orthopedic a i ʻole kahi mea hele wāwae e kōkua iā lākou e hele.
• Nā pilikia hanu: ʻO kahi pilikia maʻamau o CMD ka hāʻule mau o ka hanu. Hoʻokumu ʻia kēia e ka nāwaliwali o nā ʻiʻo e kōkua ana i ka hanu ʻana. Pono paha kēia i ka mīkini ea (mīkini hanu). Hiki i kēia ke alakaʻi i nā kūlana e like me ka atelectasis a me ka pneumonia.
• Nā pilikia o ka puʻuwai: ʻO ka Cardiomyopathy kahi pilikia maʻamau o CMD. Hiki i kēia ke alakaʻi i ka hāʻule ʻana o ka puʻuwai mau loa.
• Nā pilikia musculoskeletal:Hiki i ka paʻa ʻole ke alakaʻi i ka scoliosis, kahi iwi kuamoʻo piʻo, a me ka hoʻonui ʻia o ka pilikia o ka osteopenia a me nā haki iwi. Hiki nō hoʻi ke loaʻa nā ʻeha pehi a me nā ʻūmiʻi hui (ka paʻa ʻana o nā ʻiʻo a me nā ligament a puni kahi hui).
• Nā pilikia neurological: ʻO ka noho ʻana me kahi maʻi mau loa e hoʻonui ai i kāu keiki i ka ulu ʻana o ke kaumaha a me/a i ʻole ka hopohopo.

No ke aha e hana ʻia ai kēia ʻano maʻi ʻōpū (Congenital Muscular Dystrophy)?

Hoʻokumu ʻia kēia e nā mutations i loko o nā genes. Loaʻa kēia mau mutations i loko o nā genes nāna ke kuleana no ke kūkulu ʻana a me ka mālama ʻana i nā ʻiʻo olakino i loko o ko kākou kino. Ma muli o kēia mau mutations genetic, ʻaʻole hiki i nā cell i manaʻo ʻia e mālama i nā ʻiʻo o ka pēpē ke hana pono i kā lākou hana. ʻO ka hopena, nāwaliwali mālie nā ʻiʻo i ka hala ʻana o ka manawa.

Nui nā ʻano genes e kōkua i ka hana ʻana o nā ʻiʻo, a nui nā hoʻololi genetic hiki ke hana ʻia. ʻO ia ke kumu he nui nā ʻano like ʻole o ka muscular dystrophy a me CMD.

Hoʻoilina ka hapa nui o nā hihia o CMD ma ke ʻano autosomal recessive. I ka ʻōlelo maʻalahi, ʻo ia hoʻi, hoʻoilina ke keiki i kahi mutation genetic e hoʻoulu ai i ka maʻi mai nā mākua ʻelua. ʻO ia hoʻi, hiki i nā mākua ʻelua ke lawe i ka mutation, akā ʻaʻole paha lākou e hōʻike i nā hōʻailona. Eia nō naʻe, inā hoʻoilina ke keiki i ka mutation mai nā mākua ʻelua, e ulu ka maʻi.

Hiki koke mai kekahi mau hihia o CMD, ʻo ia hoʻi, hiki koke mai ka hoʻololi ʻana o ka gene a ʻaʻole i hoʻoilina ʻia mai kahi makua mai. Ua kapa ʻia kēia he de novo mutation.

Pehea e ʻike ʻia ai ka CMD?

Inā loaʻa i kāu pēpē nā hōʻailona o ka Congenital Muscular Dystrophy (ʻo ka hōʻailona nui ka hypotonia), e hana mua kāu kauka i kahi hoʻokolokolo kino, kahi hoʻokolokolo neurological, a me kahi hoʻokolokolo ʻiʻo. Hiki ke kuhikuhi ʻia kāu pēpē i kahi neurologist pediatric no ka hoʻāʻo hohonu.

Inā he kānalua no kahi maʻi i kapa ʻia ʻo "Congenital Muscular Dystrophy", hiki i kāu kauka ke ʻōlelo i nā hoʻokolohua e like me:

• Hoʻāʻo koko Creatine kinase: Hoʻokuʻu ʻia kahi enzyme i kapa ʻia ʻo creatine kinase i loko o ke koko ke hōʻino ʻia nā ʻiʻo. No laila, inā kiʻekiʻe kona pae i loko o ke koko, hiki ke lilo i hōʻailona o kahi maʻi nāwaliwali o nā ʻiʻo.
• Electromyography (EMG): Ke ana kēia hoʻāʻo i ka hana uila o nā ʻiʻo a me nā aʻalolo o kāu pēpē.
• Nā hoʻāʻo genetic: Aia kekahi mau hoʻāʻo genetic e hiki ke ʻike i nā hoʻololi genetic e pili ana me ka muscular dystrophy. Hiki i nā panela gene piha ke hōʻoia i ke ʻano kikoʻī o CMD ma kahi o 60% o nā hihia.
• ʻO ka biopsy ʻiʻo:E lawe paha ke kauka i kahi hāpana liʻiliʻi o nā ʻiʻo o kāu pēpē. A laila e nānā kekahi loea iā ia ma lalo o kahi microscope e nānā i nā hōʻailona o ka dystrophy muscular.
• ʻEchocardiogram a me Electrocardiogram (EKG): Nānā kēia mau hoʻokolohua e ʻike inā ua hoʻopilikia ke kūlana (CMD) i ka ʻiʻo puʻuwai o kāu pēpē.
• ʻO ke kiʻi MRI lolo: Inā hiki, hiki i kāu kauka ke ʻōlelo aku i kahi MRI lolo. Nui nā ʻano CMD e pili ana me nā ʻano ʻē aʻe ma nā ʻāpana like ʻole o ka lolo.

Me he mea lā he nui kēia mau hoʻāʻo iā ʻoe. ʻO ka nānā ʻana i kāu keiki liʻiliʻi e hana ana i kēia mau hoʻāʻo he mea ʻeha loa ia. Akā ʻo ka mea e pono ai ʻoe e ʻike, makemake nā kauka e hāʻawi i kāu pēpē i ka hōʻailona kūpono a me ka lāʻau lapaʻau maikaʻi loa. Hiki ke like nā hōʻailona o CMD me nā maʻi ʻē aʻe, e like me kekahi mau myopathies (nā maʻi ʻiʻo), a me nā kūlana metabolic ʻē aʻe, e like me nā maʻi mālama glycogen a me nā maʻi mitochondrial. No laila, he mea nui loa ka loaʻa ʻana o kahi hōʻailona pololei.

He aha nā lāʻau lapaʻau no ka `(CMD)`?

ʻAʻohe lāʻau lapaʻau no kēia maʻi (Congenital Muscular Dystrophy) i kēia manawa. Eia nō naʻe, ke hoʻomau nei nā kānaka noiʻi e ʻimi i kahi lāʻau lapaʻau.

ʻO ka pahuhopu nui o ka lāʻau lapaʻau, ʻo ia ke kāohi i nā hōʻailona a hoʻomaikaʻi i ke ʻano o ke ola o kāu keiki. Hiki ke ʻokoʻa nā koho lapaʻau ma muli o ke ʻano o CMD. Hiki i kēia mau mea ke komo pū me:

• Hoʻōla kino a me ka hoʻōla hana: ʻO ka pahuhopu nui o kēia mau hoʻōla, ʻo ia ka hoʻoikaika a me ka hoʻolōʻihi ʻana i nā ʻiʻo o kāu keiki, kahi e kōkua ai i ka mālama ʻana i ka neʻe ʻana.
• Corticosteroids: Hiki i nā Corticosteroids, e like me prednisolone lāua ʻo deflazacort, ke kōkua i ka hoʻopaneʻe ʻana i ka nāwaliwali o nā mākala, hoʻomaikaʻi i ka hana o ka māmā, hoʻolohi i ka scoliosis, hoʻolohi i ka holomua o ka cardiomyopathy, a hoʻolōʻihi i ke ola.
• 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 kōkua i kāu keiki e hele a puni a kōkua i ka pale ʻana iā lākou mai ka hāʻule ʻana.
• ʻOki kino: Pono paha kāu keiki i ke ʻoki kino e hoʻomaha i ke kaomi ma nā ʻiʻo paʻa a hoʻoponopono i ke kūlou o ka iwi kuamoʻo (scoliosis).
• Mālama puʻuwai: ʻO ka mālama mua ʻana me nā lāʻau lapaʻau e like me nā ACE inhibitors a/a i ʻole nā ​​beta-blockers hiki ke hoʻolohi i ka holomua o ka cardiomyopathy a pale i ka hāʻule ʻana o ka puʻuwai. Hiki i nā mea i kapa ʻia he pacemakers ke kōkua i ka mālama ʻana i nā pilikia o ka puʻuwai a me ka hāʻule ʻana o ka puʻuwai.
• Hoʻōla ʻōlelo: Hiki i kēia ke kōkua i nā keiki i pilikia i ka ʻōlelo ʻana a me/a i ʻole ke ale ʻana.
• Mālama hanu: Hiki i nā mea kōkua i ke kuni a me nā mea hanu ke kōkua i ka hanu ʻana. I nā hihia o ka hāʻule ʻana o ka hanu, pono paha kahi tracheostomy (hoʻokomo ʻana i kahi paipu ma o kahi lua ma ka ʻāʻī e kōkua i ka hanu ʻana) a me ke kōkua ʻana i ka ea.

Hiki paha i kāu keiki ke komo i kahi hoʻokolohua lapaʻau no CMD. E kamaʻilio me ka hui lapaʻau o kāu keiki e ʻike inā he koho kēia nāu.

Ke hui lapaʻau e mālama nei i ka `(CMD)`

Aia paha he hui o nā loea a me nā limahana mālama ola e hana ana e mālama i ke kūlana o kāu keiki (CMD). Hiki i kēia mau mea ke komo pū me nā loea e like me:

• Nā Kauka Lapaʻau Keiki
• Nā kauka neurologist o nā keiki
• Nā kauka lapaʻau keiki (Nā loea lapaʻau kino a me nā loea hoʻōla hou)
• Nā kānaka ʻepekema genetics
• Nā kauka orthopedist keiki
• Nā mea hoʻōla kino keiki
• Nā mea lapaʻau hana keiki
• Nā kauka ʻōlelo a me nā kauka ʻōlelo o nā keiki
• Nā kauka puʻuwai keiki
• Nā kauka lapaʻau pulmonology keiki
• Nā loea noʻonoʻo keiki
• Nā limahana kaiaulu

He aha ka wā e hiki mai ana o kahi pēpē me ka `(CMD)`?

He mea paʻakikī i nā kānaka noiʻi a me nā kauka ke wānana i ka wā e hiki mai ana (ka mea a mākou e kapa nei he prognosis) o kahi pēpē me Congenital Muscular Dystrophy. E hāʻawi ka hui lapaʻau o kāu keiki iā ʻoe i ka ʻike e like me ka hiki e pili ana i ka mea e manaʻo ai i ka wā e mālama ʻia ana kāu keiki.

Ma keʻano laulā, ʻoi aku ka koʻikoʻi o nā dystrophies muscular congenital a ulu wikiwiki aʻe ma mua o nā muscular dystrophies e hoʻomaka ana i ka wā kamaliʻi a i ʻole ka wā ʻōpio.

ʻO ke ola o nā keiki me ka maʻi muscular dystrophy hānau ʻia e pili ana i ka wikiwiki o ka ʻino ʻana o ke kūlana a me nā ʻiʻo i hoʻopilikia ʻia. ʻO nā kumu nui o ka make mai kēia mau kūlana he mau pilikia hanu a puʻuwai paha i hoʻokumu ʻia e ka nāwaliwali o nā ʻiʻo.

Hiki ke pale ʻia ka `(CMD)`?

ʻOiai he maʻi hoʻoilina ka Congenital Muscular Dystrophy, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku ai e like me kona kūlana i kēia manawa.

Ma mua o kou hoʻāʻo ʻana e loaʻa kahi keiki, inā ʻoe e hopohopo nei e pili ana i ka hoʻoili ʻana i ka muscular dystrophy a i ʻole nā ​​​​maʻi genetic ʻē aʻe,E kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo genetic. I kekahi mau hihia, hiki i ka hoʻāʻo prenatal i ka wā hāpai mua ke kōkua i ka ʻike ʻana i ke kūlana.

Pehea e hiki ai iaʻu ke kōkua i kaʻu keiki me ka `(CMD)`?

Inā loaʻa i kāu keiki ka Congenital Muscular Dystrophy, he mea nui e kākoʻo ʻoe iā lākou e hōʻoia i ka loaʻa ʻana o ka mālama olakino maikaʻi loa a me nā lawelawe therapeutic e like me ka hiki. Ma ke kākoʻo ʻana i ia ʻano mālama, hiki iā ʻoe ke kōkua iā lākou e loaʻa ke ʻano ola maikaʻi loa.

Hiki iā ʻoe a me kou ʻohana ke noʻonoʻo e hui pū me kahi hui kākoʻo kahi e hiki ai iā ʻoe ke hālāwai me nā poʻe i hele i nā ʻike like. Hiki i nā wahi e like me kēia ke hāʻawi iā ʻoe i ka ikaika noʻonoʻo, ka ʻike hou, a me nā mea he nui e aʻo ai mai nā ʻike o haʻi.

Āhea e pono ai i kaʻu keiki me ka `(CMD)` ke ʻike i ke kauka?

Inā loaʻa i kāu keiki ka CMD, pono lākou e hālāwai me kā lākou hui lapaʻau i nā manawa a pau e loaʻa ai ka lāʻau lapaʻau a nānā i kā lākou mau hōʻailona. Mai poina i nā manawa hoʻopaʻa e like me ka ʻōlelo a kāu kauka.

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka o kaʻu keiki?

Ke ʻike ʻia kāu keiki me CMD, he mea kōkua paha ke nīnau ʻana i kēia mau nīnau:

• He aha ke ʻano o ka `(CMD)` a kaʻu keiki?
• He aha ka lāʻau lapaʻau āu e paipai nei?
• He aha ka papa inoa piha o nā kauka lapaʻau e pono ai kaʻu keiki ke ʻike?
• Ke mālama nei ʻoe i ka pilina me nā loea ʻē aʻe?
• He aha kaʻu e hana ai ma ka home e hoʻomaikaʻi ai i ke ola o kaʻu keiki? (e.g. hoʻoikaika kino, ʻai)
• Aia kekahi noiʻi hou e pili ana i ka `(CMD)`?
• Aia kekahi mau hoʻokolohua lapaʻau hou no CMD e kūpono paha kaʻu keiki?
• Hiki iā ʻoe ke paipai i kahi hui kākoʻo?

ʻO nā mea nui a mākou e makemake ai e lawe i ka home mai kēia moʻolelo

He mea maʻamau ka manaʻo kaumaha a me ka hopohopo ke ʻike ʻia kāu keiki me ka Congenital Muscular Dystrophy (CMD). Akā e hoʻomanaʻo, e hāʻawi ka hui lapaʻau o kāu keiki i kahi hoʻolālā hoʻokele ikaika a pilikino. He mea nui e hōʻoia iā ʻoe, kāu keiki, a me kou ʻohana e loaʻa ke kākoʻo e pono ai lākou, a e noho kālele ana i ke olakino o kāu keiki. Aia ka hui lapaʻau o kāu keiki ma aneʻi e kōkua iā ʻoe, kāu keiki, a me kou ʻohana ma o kēlā me kēia ʻanuʻu o ke ala. Mai hopohopo, ʻaʻole ʻoe hoʻokahi.

ʻO ka Dystrophy Muscular Congenital, CMD, nāwaliwali o nā ʻiʻo, maʻi genetic, nā maʻi kamaliʻi, hypotonia, hoʻopau ʻana o nā ʻiʻo, olakino o ke keiki