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Ke nāwaliwali nei hoʻi kou mau ʻiʻo? He myotonic dystrophy paha kēia!

Ke nāwaliwali nei hoʻi kou mau ʻiʻo? He myotonic dystrophy paha kēia!

Ua manaʻo paha ʻoe e like me kou mau lālā ikaika ma mua e lilo mālie ana i mea palupalu a palupalu paha? A i ʻole he mea paʻakikī iā ʻoe ke wehe i kou lima ke paʻa ʻoe i kahi mea me ka paʻa? ʻO kēia nā mea a mākou e nānā ʻole ai i kekahi manawa, akā he mau hōʻailona paha ia o kahi maʻi i kapa ʻia ʻo Myotonic Dystrophy . E kamaʻilio kākou e pili ana i kēia me nā kikoʻī a me ka maʻalahi i kēia lā.

He aha ka Myotonic Dystrophy?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina paʻakikī ka Myotonic Dystrophy (DM). ʻO ka mea nui i kēia, ʻo ia ka emi mālie ʻana o nā ʻiʻo o ko kākou kino a nāwaliwali. ʻAʻole paha e hoʻomaha koke nā ʻiʻo o ka poʻe me kēia maʻi ma hope o ka hoʻohana ʻana, akā e mau ana paha ka ʻūlū ʻana. Kāhea mākou i kēia myotonia . Ua like ia me ka paʻa ʻana i kahi ʻūpā puka a me ka hoʻāʻo ʻana e wehe iā ia e lōʻihi ka manawa.

Hiki ke ākea loa nā hōʻailona o ka myotonic dystrophy (DM). Hiki iā ia ke hoʻopilikia i kekahi mau ʻōnaehana i loko o ko mākou kino. Eia kekahi laʻana:

  • ʻO ko kākou mau ʻiʻo iwi (nā ʻiʻo a kākou e hoʻomalu ai me ka manaʻo) a me nā ʻiʻo puʻuwai.
  • Nā maka.
  • ʻŌnaehana cardiovascular (ʻōnaehana kahe koko).
  • ʻŌnaehana endocrine (ʻōnaehana hormonal).
  • ʻŌnaehana nerve waena (lolo a me ke kaula kuamoʻo).

Aia kekahi mau ʻano o ka dystrophy myotonic?

ʻAe, aia ʻelua mau ʻano nui o DM:

1. ʻO ka maʻi dystrophy myotonic ʻano 1 (DM1): Ua kapa ʻia kēia ʻo ka maʻi Steinert . ʻEhā mau ʻano like ʻole o DM1:

  • ʻAno kuʻuna
  • ʻAno akahai
  • ʻAno hānau (i ka wā hānau)
  • ʻAno kamaliʻi

2. ʻO ka dystrophy myotonic ʻano 2 (DM2): Ua kapa ʻia kēia ʻo proximal myotonic myopathy .

Hiki ke like nā hōʻailona o nā ʻano ʻelua i kekahi manawa. Eia nō naʻe, ʻoi aku ka palupalu o ka DM2 ma mua o DM1, ʻo ia hoʻi, ʻaʻole i koʻikoʻi loa nā hōʻailona.

He aha ka ʻokoʻa ma waena o ka Muscular Dystrophy a me ka Myotonic Dystrophy?

He mea kēia e huikau ai nā kānaka he nui. ʻO ka muscular dystrophy kahi hui o nā maʻi hoʻoilina (genetic). Loaʻa i kēia hui ma mua o 30 mau ʻano maʻi. Hoʻopilikia lākou a pau i ka nāwaliwali o nā ʻiʻo. Hāʻule kēia mau mea i loko o ka māhele o ka myopathy , he maʻi ia o ko kākou mau ʻiʻo iwi. I ka hala ʻana o ka manawa, emi nā ʻiʻo a nāwaliwali. Hoʻolilo kēia i mea paʻakikī ke hele a hana i nā hana o kēlā me kēia lā. I kekahi manawa hiki ke hoʻopilikia ʻia ka puʻuwai a me nā māmā.

ʻO ka Dystrophy MyotonicHe ʻano maʻi ia e pili ana i ka hui muscular dystrophy i ʻōlelo ʻia ma mua. ʻO ka mea kūikawā, ma waena o nā muscular dystrophies e hoʻomaka ana i ka wā makua, ʻo kēia kūlana myotonic dystrophy ka mea maʻamau. (Eia nō naʻe, hiki i kekahi mau ʻano DM ke hoʻomaka i ka wā kamaliʻi a i ʻole ka wā kamaliʻi).

ʻO wai ka mea hiki ke loaʻa i ka myotonic dystrophy? Aia kekahi ʻokoʻa makahiki?

Hiki i nā ʻano DM like ʻole ke hoʻomaka i nā makahiki like ʻole. E nānā kākou pehea:

  • ʻO ka dystrophy myotonic maʻamau ʻano 1 (Classic DM1): Hoʻomaka pinepine kēia i nā makahiki 20, 30, a i ʻole 40.
  • ʻO ka dystrophy myotonic mild type 1 (Mild DM1): Hiki i kēia ke hoʻopilikia i nā kānaka ma waena o 20 a me 70 mau makahiki, akā ʻoi aku ka maʻamau ma hope o 40 mau makahiki.
  • ʻO ka dystrophy myotonic congenital ʻano 1 (Congenital DM1): E like me ka manaʻo o ka huaʻōlelo "congenital", he ʻano kēia e hoʻopilikia ai i nā pēpē. ʻO ia hoʻi, aia ia mai ka hānau ʻana mai.
  • ʻO ka dystrophy myotonic dystrophy o ke kamaliʻi ʻano 1 (Childhood DM1): Hoʻomaka kēia ma kahi o 10 mau makahiki.
  • ʻO ka myotonic dystrophy type 2 (DM2): Hoʻomaka pū kēia i ka wā makua. Hoʻomaka pinepine nā hōʻailona ma kahi o 48 mau makahiki.

Pehea ka maʻamau o kēia maʻi?

Hoʻopilikia ka myotonic dystrophy (DM) ma ka liʻiliʻi he 1 i loko o 8,000 mau kānaka ma ka honua holoʻokoʻa. Eia nō naʻe, hiki ke ʻokoʻa kēia helu ma muli o ka ʻāina a me ka lāhui. ʻO DM ke ʻano maʻamau o ka muscular dystrophy i waena o ka poʻe o ka hanauna ʻEulopa.

I ka hapa nui o nā heluna kanaka, ʻoi aku ka maʻamau o ka DM type 1 (DM1) ma mua o ka DM type 2 (DM2).

He aha nā hōʻailona o ka Myotonic Dystrophy?

ʻO kēia nā hōʻailona nui o DM. E lilo mālie ana lākou i mea ʻino i ka hala ʻana o ka manawa, ʻo ia hoʻi e lilo lākou i mea ʻino loa:

  • Ka mae ʻana o nā ʻiʻo: Ka nawaliwali o nā ʻiʻo.
  • Nāwaliwali o nā ʻiʻo: Ua emi ka ikaika o nā ʻiʻo.
  • Myotonia: Ua kamaʻilio mākou e pili ana i kēia ma mua. ʻO ka hiki ʻole ke hoʻomaha i kahi ʻiʻo me ka ʻike. No ka laʻana, i ka wā e hopu ai kekahi me DM i kahi ʻūpā puka, he mea paʻakikī paha ke hoʻokuʻu.

Eia nō naʻe, no ka mea, hoʻopilikia ka DM i nā ʻāpana like ʻole o ke kino, hiki ke loaʻa nā ʻano hōʻailona ʻē aʻe. ʻOkoʻa ke koʻikoʻi o kēia mau hōʻailona a me ka wikiwiki o ko lākou ulu ʻana ma muli o ke ʻano o DM.

Nā Hōʻailona o ka Dystrophy Myotonic Classic Type 1

Hoʻomaka nā hōʻailona o kēia ʻano i ka wā makua. ʻO Myotonia ka hōʻailona nui i ʻike mua ʻia. ʻIke nui ʻia kēia ma hope o ka hoʻomaha ʻana a hiki ke emi iki ma hope o ka hana ʻana o nā ʻiʻo.

ʻO nā hōʻailona ʻē aʻe:

  • Ka nāwaliwali o nā ʻiʻo distal:ʻO ke ʻano kēia, e nāwaliwali nā ʻiʻo ma kahi mamao aku mai ke kikowaena o ke kino (e laʻa, nā ʻiʻo ma nā lima a me nā wāwae). Hoʻopaʻakikī kēia i ka hana ʻana i nā hana palupalu me nā lima (e laʻa, ke pihi ʻana, ke kākau ʻana). Hoʻopaʻakikī hoʻi i ka hele wāwae ma muli o ke ʻano i kapa ʻia ʻo ka foot drop (me he mea lā e kauō ana ka lalo o ka wāwae ma ka honua).
  • ʻO ka atrophy o nā ʻiʻo o ka maka e hoʻolilo ai i ka maka i ʻano lahilahi a ʻoi (maka myopathic) .
  • Nā ʻano ʻino o ka hoʻokele puʻuwai .

Nā Hōʻailona o ka Congenital Myotonic Dystrophy Type 1

Ma muli o kēia ʻano i ka wā hānau, hiki i ka pēpē ke hōʻike i kekahi mau hōʻailona i ka wā e noho ana i loko o ka ʻōpū:

  • Ua emi ka neʻe ʻana o ka fetal i loko o ka ʻōpū.
  • ʻO Polyhydramnios ka nui o ka wai amniotic e hoʻopuni ana i ka ʻōpū i ka wā hāpai.
  • Ka wāwae kalapu ( ka wāwae i hoʻohuli ʻia i loko).
  • ʻO Ventriculomegaly (ka hoʻonui ʻia ʻana o nā ventricles o ka lolo) (ma muli o ka hōʻiliʻili ʻana o ka wai cerebrospinal).

Nā hōʻailona i ʻike ʻia i nā keiki a me nā pākeke ma hope o ka hānau ʻana:

  • Ua like ke ʻano o ka lehelehe luna me he halelewa lā ma muli o ka nāwaliwali o nā ʻiʻo o ka maka.
  • ʻŌlelo pahee (Dysarthria) .
  • Nā kīnā noʻonoʻo.
  • Ma kahi o ka myotonia, ua emi ke kani o nā uaua (Hypotonia) .

Nā Hōʻailona o ka Dystrophy Myotonic Mild Type 1

Hoʻomaka pinepine nā hōʻailona o kēia ʻano ma waena o nā makahiki 20 a me 70. ʻO lākou kekahi:

  • Ka nāwaliwali iki o nā ʻiʻo.
  • Miotonia (Miotonia).
  • Nā maʻi cataract .

Nā Hōʻailona o ka Dystrophy Myotonic o ke Kamaliʻi ʻAno 1

Hoʻomaka pinepine nā hōʻailona o kēia ʻano ma kahi o 10 mau makahiki. ʻO lākou kekahi:

  • Nā pilikia aʻo a me nā pilikia psychosocial (e.g. nā pilikia ʻohana, ke kaumaha, ka hopohopo).
  • ʻŌlelo ʻūlū.
  • ʻO ka myotonia o nā ʻiʻo o nā lima.
  • Nā ʻano ʻino o ka hoʻokele puʻuwai .

Nā Hōʻailona o ka Myotonic Dystrophy Type 2

Hoʻomaka pinepine nā hōʻailona o ke ʻano 2 DM i ka wā makua a hiki ke ʻokoʻa.

Hiki i nā hōʻailona ke komo pū me:

  • Ka nāwaliwali a i ʻole ka paʻa ʻana o nā ʻiʻo kokoke i waenakonu o ke kino (e.g., nā ʻiʻo a puni nā pūhaka a me nā poʻohiwi).
  • ʻEha myofascial (ʻeha i loko o nā ʻiʻo a me nā ʻiʻo pili) .
  • ʻO ka hoʻomaka mua ʻana o nā cataracts (ma mua o 50 mau makahiki).
  • Hiki mai ka myotonia o nā kekelē like ʻole i ka wā e hopu ai i kahi mea me ka lima.
  • Ka hemahema o ka lohe.

He ʻeha nui ka ʻeha i waena o ka poʻe me DM2. Hōʻike kēia poʻe i ka ʻeha ma ka ʻōpū, nā ʻiʻo iwi, a i ka wā e hoʻoikaika kino ana.

He aha ke kumu o ka Myotonic Dystrophy?

He maʻi ʻōiwi ka myotonic dystrophy (DM), ʻo ia hoʻi, ua hoʻoili ʻia mai nā mākua a i nā keiki ma o nā ʻano genes.

Hoʻokumu ʻia ka DM ʻano 1 (DM1) e nā mutations (nā loli) i loko o ka gene i kapa ʻia ʻo DMPK . Hoʻokumu ʻia ka DM ʻano 2 (DM2) e nā mutations i loko o ka gene i kapa ʻia ʻo CNBP .

ʻO nā loli like i ke ʻano o nā genes ʻelua, ʻo DMPK lāua ʻo CNBP, ke kumu o DM1 lāua ʻo DM2. I kēlā me kēia hihia, hana hou ʻia kahi ʻāpana o ka DNA i nā manawa he nui ma ke ʻano ʻē. Hoʻokumu kēia i kahi ʻāpana paʻa ʻole i loko o ka gene. ʻO ka nui o nā manawa e hana hou ʻia ai kēia ʻāpana o ka DNA me ke ʻano ʻē, ʻoi aku ka koʻikoʻi o nā hōʻailona o DM.

Hōʻike nā hōʻike ʻepekema he mea ʻawahia ka RNA ʻelele keu i hana ʻia e kēia mau hana hou ʻana o ka DNA maʻamau. Hoʻopilikia kēia i ka hana ʻana o nā protein like ʻole i loko o nā cell, ʻo ia ke kumu o nā hōʻailona o ka myotonic dystrophy i nā ʻōkana like ʻole.

Pehea e hoʻoili ʻia ai kēia maʻi mai kēlā hanauna a i kēia hanauna (Myotonic Dystrophy Inheritance)

Hoʻoilina ʻia nā ʻano ʻelua o DM ma ke ʻano i kapa ʻia ʻo autosomal dominant . Ma kēia ʻano, hoʻokahi wale nō makua e pono e loaʻa ka gene i hoʻopilikia ʻia no ka hoʻoili ʻana o ka maʻi i kahi keiki. ʻO ka hapalua o nā keiki a kahi makua me kahi ʻano autosomal dominant e hoʻoilina i ke ʻano.

I ka hoʻoili ʻia ʻana o ka myotonic dystrophy type 1 (DM1) mai kekahi hanauna a i kekahi, e ʻōpiopio ana ka makahiki o ka hoʻomaka ʻana a e ʻoi aku ka ʻino o nā hōʻailona. Ua kapa ʻia kēia hanana he anticipation . Me he mea lā e "wikiwiki ana" ka maʻi mai kekahi hanauna a i kekahi.

Pehea e ʻike ʻia ai ka Myotonic Dystrophy? (Diagnosis)

Inā loaʻa iā ʻoe nā hōʻailona o DM, e nānā mua ke kauka iā ʻoe a nīnau iā ʻoe e pili ana i:

  • Kou mōʻaukala lapaʻau pilikino.
  • Ka mōʻaukala lapaʻau ʻohana, ʻoiai inā he DM kekahi o ka ʻohana.
  • Kou mau hōʻailona.

Ma hope o kēlā, hiki ke hana ʻia kekahi mau hoʻokolohua lapaʻau e hōʻoia i ka hōʻoia o DM.

He aha ke ʻano o nā hoʻokolohua e hana ʻia?

Hiki i ka hoʻāʻo ʻana i ka genetic ke hōʻoia i ka maʻi DM. Ke nānā nei kēia mau hoʻāʻo i nā mutations i loko o ka gene DMPK (no DM1) a i ʻole ka gene CNBP (no DM2).

Inā kānalua kāu kauka he DM kou a i ʻole kekahi maʻi ʻē aʻe, hiki iā lākou ke hana i hoʻokahi a ʻoi aku paha o kēia mau hoʻāʻo ma mua o ka kuhikuhi ʻana iā ʻoe no ka hoʻāʻo genetic:

  • Hoʻāʻo koko Creatine kinase: ʻO Creatine kinase kahi enzyme i loaʻa nui i loko o ka puʻuwai a me nā ʻiʻo iwi. Ke hōʻino ʻia kēia mau hunaola ʻiʻo, hōʻiliʻili kēia enzyme i loko o ke koko. Hiki i ka poʻe me DM liʻiliʻi ke loaʻa i kēia pae i kahi kiʻekiʻe iki, a i ʻole he mea maʻamau paha.
  • ʻElekromyogram (EMG):Ma kēia hoʻāʻo, hoʻokomo ʻia kahi electrode lahilahi e like me ke nila i loko o ka ʻiʻo a ana ʻia ka hana uila o nā olonā ʻiʻo. ʻO ka poʻe me DM he hana uila kiʻekiʻe a haʻahaʻa hoʻi i loko o ko lākou mau ʻiʻo, ʻoiai ke hoʻomaha nei lākou.
  • ʻO ka biopsy ʻiʻo: Ma kēia, lawe ke kauka i kahi ʻāpana liʻiliʻi o nā ʻiʻo mai kou ʻiʻo a nānā iā ia ma lalo o kahi microscope e ʻike inā he mau hōʻailona o DM.

E hana ʻia anei nā hoʻokolohua hou aʻe ma hope o ka hōʻoia ʻia ʻana o ka maʻi?

ʻAe, inā hōʻoia kēia mau hoʻokolohua iā DM, hiki i kāu kauka ke ʻōlelo aku i nā hoʻokolohua hou aʻe e nānā i ka hana o kekahi mau ʻōkana i hoʻopilikia ʻia e DM. Eia kekahi laʻana:

  • ʻO kahi hoʻāʻo electrocardiogram (ECG) e nānā i ka hana o ka puʻuwai.
  • Hoʻāʻo ʻia ka hana hana pulmonary e nānā i nā pilikia hanu neuromuscular.
  • He haʻawina hiamoe e nānā ai no ka obstructive sleep apnea a me ka hiamoe nui i ke ao.

Aia kekahi lāʻau lapaʻau no ka Myotonic Dystrophy?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka myotonic dystrophy (DM). No laila, ʻo nā pahuhopu nui o ka mālama ʻana:

  • Ka mālama ʻana i nā hōʻailona.
  • Ka mālama ʻana i ke kūlana kiʻekiʻe loa o ke ola a me ke kūʻokoʻa.

Ma muli o ka hoʻopilikia ʻana o DM i nā ʻāpana like ʻole o ke kino, hiki ke ʻokoʻa nā lāʻau lapaʻau ma muli o kāu mau hōʻailona. Hiki i kēia mau mea ke komo pū me:

  • Nā lāʻau lapaʻau e hōʻemi i ka myotonia mau. No ka laʻana, nā mea pale kahawai sodium e like me Mexiletine , Tricyclic antidepressants , Benzodiazepines , a i ʻole nā ​​​​​​mea kūʻē i ka calcium .
  • ʻO kahi mīkini CPAP e pale ai i ka apnea hiamoe.
  • Nā mea hoʻonāukiuki e like me ka methylphenidate no ka hiamoe nui i ke ao.
  • ʻO ke ʻoki ʻana i ka cataract kahi ʻoki ʻana e wehe ai i kahi cataract e ālai ana i ka ʻike.
  • Lapaʻau no ka maʻi diabetes. Pono paha kēia i nā pila a me/a i ʻole insulin . Loaʻa i ka poʻe me DM ka pilikia nui o ka loaʻa ʻana o ka maʻi diabetes ma muli o ke kūʻē ʻana i ka insulin .
  • ʻO ka lāʻau lapaʻau Testosterone no ka hypogonadism kāne . Loaʻa pinepine i nā kāne me DM1 nā pae testosterone haʻahaʻa a me ka hana erectile dysfunction .

He mau lāʻau lapaʻau koʻikoʻi ka hoʻoikaika kino a me ka hoʻoikaika hana no ka hoʻonui ʻana i ke kūʻokoʻa no ka poʻe me DM. Hiki iā lākou ke kōkua iā ʻoe e hoʻoikaika i kou mau ʻiʻo a aʻo i nā ala hou e hana ai i nā hana o kēlā me kēia lā. Hiki iā ʻoe ke mālama i ke kūʻokoʻa ma ka hoʻohana ʻana i nā mea kōkua (e laʻa, nā pale lima, nā koʻokoʻo, nā noho huila).

Hiki i ka pathology ʻōlelo-ʻōlelo (SLP) ke kōkua i nā pilikia ale (Dysphagia) a me ka ʻōlelo slurred (Dysarthria) .

Hiki ke pale ʻia ka ulu ʻana o ka myotonic dystrophy?

ʻOiai he maʻi hoʻoilina ʻo DM, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku ai.

Ma mua o kou loaʻa ʻana o kahi keiki, inā ʻoe e hopohopo nei e pili ana i ka pilikia o ka hoʻoili ʻana i ka DM a i ʻole nā ​​​​maʻi genetic ʻē aʻe i kāu mau keiki, e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i nā genetics .

He aha ka wānana no kēia maʻi?

ʻO ka nānā ʻana no ka myotonic dystrophy (DM) e pili ana i ke ʻano o ka maʻi a me ka makahiki e hoʻomaka ai nā hōʻailona. Ma ke ʻano laulā, inā hoʻomaka nā hōʻailona i ka wā ʻōpiopio, ʻaʻole paha e maikaʻi ka hopena a hiki ke hoʻemi ʻia ka manaʻolana o ke ola.

Ma kahi o 50% o ka poʻe me DM1 e pono ai kahi noho huila e hele ai ma mua o ko lākou make ʻana. ʻAʻole pono ka poʻe me DM2 i nā mea kōkua e hele ai no ka mea he akahai ko lākou mau hōʻailona.

He aha ke kūlana o ke ola o kekahi kanaka me ka Myotonic Dystrophy?

ʻOkoʻa ke ola maʻamau o kekahi me DM ma muli o ke ʻano o ka maʻi.

  • Ma waena o nā pēpē me DM1 hānau ʻia, ʻo ka nui o ka make ʻana o ka pēpē hānau hou ma kahi o 18%. Ma kahi o 25% o ka poʻe me DM1 hānau ʻia e make ma mua o 18 mau mahina o ka makahiki, a ma kahi o 50% e make ma mua o 30 mau makahiki.
  • ʻO ka poʻe me ka DM1 ʻoluʻolu ke ola i kahi ola maʻamau.
  • ʻOi aku ka pōkole o ke ola o ka poʻe me ka Classic DM1 ma mua o ka heluna kanaka maʻamau.

Hiki i ka Myotonic Dystrophy ke lilo i mea make?

ʻAe, hiki i ka myotonic dystrophy (DM) ke make. Eia nō naʻe, ʻokoʻa ka makahiki e make ai ma muli o ke ʻano o ka maʻi. ʻO ke kumu nui o ka make ʻana ma DM, ʻo ia ka neuromuscular-associated respiratory failure . Hiki i nā pilikia cardiovascular ke lilo i kumu o ka make.

Āhea ʻoe e ʻike ai i ke kauka e pili ana i ka myotonic dystrophy?

Inā loaʻa iā ʻoe nā hōʻailona o DM, e like me ka nāwaliwali o nā ʻiʻo a me ka myotonia, e ʻike pono i ke kauka.

Inā loaʻa iā ʻoe ʻo DM, pono ʻoe e hālāwai me kāu hui lapaʻau i kēlā me kēia manawa e hōʻoia i ka hana pono ʻana o kāu hoʻolālā lapaʻau o kēia manawa.

Ke loaʻa iā ʻoe a i ʻole kāu keiki kahi maʻi hou, hiki ke paʻakikī ke hoʻomanawanui. Akā e hoʻomanaʻo, ʻaʻole i hoʻopilikia ʻia nā kānaka a pau me ka myotonic dystrophy (DM) i ke ala like. ʻO ka mea maikaʻi loa hiki iā ʻoe ke hana, ʻo ia ke kamaʻilio me kahi loea e noiʻi a mālama iā DM. Hiki iā lākou ke haʻi iā ʻoe e pili ana i nā koho lapaʻau a pane i nā nīnau āu e loaʻa ai.

E hoʻomanaʻo kākou i ka mea a kākou i kamaʻilio ai ma ke ʻano he hōʻuluʻulu manaʻo (Leka Lawe-Home)

  • ʻO ka myotonic dystrophy (DM) kahi maʻi genetic e hoʻoulu ai i ka nāwaliwali o nā ʻiʻo a me ka nawaliwali.
  • ʻO ka Myotonia kahi ʻano e paʻakikī ai i nā ʻiʻo ke hoʻomaha ma hope o ka hoʻohana ʻana.
  • ʻElua ʻano nui o DM: DM1 a me DM2 . Loaʻa iā DM1 nā ʻano ʻē aʻe.
  • Hiki ke ʻokoʻa nā hōʻailona ma muli o ke ʻano o DM a mai ke kanaka a i ke kanaka.
  • ʻO kēia ke kumu o nā mutations i loko o nā genes.
  • Hoʻomaopopo ʻia ka maʻi ma o ka hoʻāʻo genetic a me nā hoʻokolohua ʻē aʻe.
  • ʻOiai ʻaʻohe lāʻau lapaʻau piha, aia nā lāʻau lapaʻau e hiki ke hoʻokele i nā hōʻailona a hoʻomaikaʻi i ka maikaʻi o ke ola.
  • Inā he kānalua kou no kēia, e ʻimi koke i ke kōkua lapaʻau. He mea nui loa ka ʻike mua ʻana.

Manaʻolana wau he mea pono kēia ʻike iā ʻoe. E ola kino!


ʻO ka Dystrophy Myotonic, Nāwaliwali o nā ʻiʻo, nā maʻi genetic, Myotonic Dystrophy, nā maʻi ʻiʻo, DM, nā maʻi neurological

Frequently Asked Questions (FAQ)

E hana ʻia anei nā hoʻokolohua hou aʻe ma hope o ka hōʻoia ʻia ʻana o ka maʻi?

ʻAe, inā hōʻoia kēia mau hoʻokolohua iā DM, hiki i kāu kauka ke ʻōlelo aku i nā hoʻokolohua hou aʻe e nānā i ka hana o kekahi mau ʻōkana i hoʻopilikia ʻia e DM. Eia kekahi laʻana:

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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Ke nāwaliwali nei hoʻi kou mau ʻiʻo? He myotonic dystrophy paha kēia!

Ke nāwaliwali nei hoʻi kou mau ʻiʻo? He myotonic dystrophy paha kēia!

Ua manaʻo paha ʻoe e like me kou mau lālā ikaika ma mua e lilo mālie ana i mea palupalu a palupalu paha? A i ʻole he mea paʻakikī iā ʻoe ke wehe i kou lima ke paʻa ʻoe i kahi mea me ka paʻa? ʻO kēia nā mea a mākou e nānā ʻole ai i kekahi manawa, akā he mau hōʻailona paha ia o kahi maʻi i kapa ʻia ʻo Myotonic Dystrophy . E kamaʻilio kākou e pili ana i kēia me nā kikoʻī a me ka maʻalahi i kēia lā.

He aha ka Myotonic Dystrophy?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina paʻakikī ka Myotonic Dystrophy (DM). ʻO ka mea nui i kēia, ʻo ia ka emi mālie ʻana o nā ʻiʻo o ko kākou kino a nāwaliwali. ʻAʻole paha e hoʻomaha koke nā ʻiʻo o ka poʻe me kēia maʻi ma hope o ka hoʻohana ʻana, akā e mau ana paha ka ʻūlū ʻana. Kāhea mākou i kēia myotonia . Ua like ia me ka paʻa ʻana i kahi ʻūpā puka a me ka hoʻāʻo ʻana e wehe iā ia e lōʻihi ka manawa.

Hiki ke ākea loa nā hōʻailona o ka myotonic dystrophy (DM). Hiki iā ia ke hoʻopilikia i kekahi mau ʻōnaehana i loko o ko mākou kino. Eia kekahi laʻana:

  • ʻO ko kākou mau ʻiʻo iwi (nā ʻiʻo a kākou e hoʻomalu ai me ka manaʻo) a me nā ʻiʻo puʻuwai.
  • Nā maka.
  • ʻŌnaehana cardiovascular (ʻōnaehana kahe koko).
  • ʻŌnaehana endocrine (ʻōnaehana hormonal).
  • ʻŌnaehana nerve waena (lolo a me ke kaula kuamoʻo).

Aia kekahi mau ʻano o ka dystrophy myotonic?

ʻAe, aia ʻelua mau ʻano nui o DM:

1. ʻO ka maʻi dystrophy myotonic ʻano 1 (DM1): Ua kapa ʻia kēia ʻo ka maʻi Steinert . ʻEhā mau ʻano like ʻole o DM1:

  • ʻAno kuʻuna
  • ʻAno akahai
  • ʻAno hānau (i ka wā hānau)
  • ʻAno kamaliʻi

2. ʻO ka dystrophy myotonic ʻano 2 (DM2): Ua kapa ʻia kēia ʻo proximal myotonic myopathy .

Hiki ke like nā hōʻailona o nā ʻano ʻelua i kekahi manawa. Eia nō naʻe, ʻoi aku ka palupalu o ka DM2 ma mua o DM1, ʻo ia hoʻi, ʻaʻole i koʻikoʻi loa nā hōʻailona.

He aha ka ʻokoʻa ma waena o ka Muscular Dystrophy a me ka Myotonic Dystrophy?

He mea kēia e huikau ai nā kānaka he nui. ʻO ka muscular dystrophy kahi hui o nā maʻi hoʻoilina (genetic). Loaʻa i kēia hui ma mua o 30 mau ʻano maʻi. Hoʻopilikia lākou a pau i ka nāwaliwali o nā ʻiʻo. Hāʻule kēia mau mea i loko o ka māhele o ka myopathy , he maʻi ia o ko kākou mau ʻiʻo iwi. I ka hala ʻana o ka manawa, emi nā ʻiʻo a nāwaliwali. Hoʻolilo kēia i mea paʻakikī ke hele a hana i nā hana o kēlā me kēia lā. I kekahi manawa hiki ke hoʻopilikia ʻia ka puʻuwai a me nā māmā.

ʻO ka Dystrophy MyotonicHe ʻano maʻi ia e pili ana i ka hui muscular dystrophy i ʻōlelo ʻia ma mua. ʻO ka mea kūikawā, ma waena o nā muscular dystrophies e hoʻomaka ana i ka wā makua, ʻo kēia kūlana myotonic dystrophy ka mea maʻamau. (Eia nō naʻe, hiki i kekahi mau ʻano DM ke hoʻomaka i ka wā kamaliʻi a i ʻole ka wā kamaliʻi).

ʻO wai ka mea hiki ke loaʻa i ka myotonic dystrophy? Aia kekahi ʻokoʻa makahiki?

Hiki i nā ʻano DM like ʻole ke hoʻomaka i nā makahiki like ʻole. E nānā kākou pehea:

  • ʻO ka dystrophy myotonic maʻamau ʻano 1 (Classic DM1): Hoʻomaka pinepine kēia i nā makahiki 20, 30, a i ʻole 40.
  • ʻO ka dystrophy myotonic mild type 1 (Mild DM1): Hiki i kēia ke hoʻopilikia i nā kānaka ma waena o 20 a me 70 mau makahiki, akā ʻoi aku ka maʻamau ma hope o 40 mau makahiki.
  • ʻO ka dystrophy myotonic congenital ʻano 1 (Congenital DM1): E like me ka manaʻo o ka huaʻōlelo "congenital", he ʻano kēia e hoʻopilikia ai i nā pēpē. ʻO ia hoʻi, aia ia mai ka hānau ʻana mai.
  • ʻO ka dystrophy myotonic dystrophy o ke kamaliʻi ʻano 1 (Childhood DM1): Hoʻomaka kēia ma kahi o 10 mau makahiki.
  • ʻO ka myotonic dystrophy type 2 (DM2): Hoʻomaka pū kēia i ka wā makua. Hoʻomaka pinepine nā hōʻailona ma kahi o 48 mau makahiki.

Pehea ka maʻamau o kēia maʻi?

Hoʻopilikia ka myotonic dystrophy (DM) ma ka liʻiliʻi he 1 i loko o 8,000 mau kānaka ma ka honua holoʻokoʻa. Eia nō naʻe, hiki ke ʻokoʻa kēia helu ma muli o ka ʻāina a me ka lāhui. ʻO DM ke ʻano maʻamau o ka muscular dystrophy i waena o ka poʻe o ka hanauna ʻEulopa.

I ka hapa nui o nā heluna kanaka, ʻoi aku ka maʻamau o ka DM type 1 (DM1) ma mua o ka DM type 2 (DM2).

He aha nā hōʻailona o ka Myotonic Dystrophy?

ʻO kēia nā hōʻailona nui o DM. E lilo mālie ana lākou i mea ʻino i ka hala ʻana o ka manawa, ʻo ia hoʻi e lilo lākou i mea ʻino loa:

  • Ka mae ʻana o nā ʻiʻo: Ka nawaliwali o nā ʻiʻo.
  • Nāwaliwali o nā ʻiʻo: Ua emi ka ikaika o nā ʻiʻo.
  • Myotonia: Ua kamaʻilio mākou e pili ana i kēia ma mua. ʻO ka hiki ʻole ke hoʻomaha i kahi ʻiʻo me ka ʻike. No ka laʻana, i ka wā e hopu ai kekahi me DM i kahi ʻūpā puka, he mea paʻakikī paha ke hoʻokuʻu.

Eia nō naʻe, no ka mea, hoʻopilikia ka DM i nā ʻāpana like ʻole o ke kino, hiki ke loaʻa nā ʻano hōʻailona ʻē aʻe. ʻOkoʻa ke koʻikoʻi o kēia mau hōʻailona a me ka wikiwiki o ko lākou ulu ʻana ma muli o ke ʻano o DM.

Nā Hōʻailona o ka Dystrophy Myotonic Classic Type 1

Hoʻomaka nā hōʻailona o kēia ʻano i ka wā makua. ʻO Myotonia ka hōʻailona nui i ʻike mua ʻia. ʻIke nui ʻia kēia ma hope o ka hoʻomaha ʻana a hiki ke emi iki ma hope o ka hana ʻana o nā ʻiʻo.

ʻO nā hōʻailona ʻē aʻe:

  • Ka nāwaliwali o nā ʻiʻo distal:ʻO ke ʻano kēia, e nāwaliwali nā ʻiʻo ma kahi mamao aku mai ke kikowaena o ke kino (e laʻa, nā ʻiʻo ma nā lima a me nā wāwae). Hoʻopaʻakikī kēia i ka hana ʻana i nā hana palupalu me nā lima (e laʻa, ke pihi ʻana, ke kākau ʻana). Hoʻopaʻakikī hoʻi i ka hele wāwae ma muli o ke ʻano i kapa ʻia ʻo ka foot drop (me he mea lā e kauō ana ka lalo o ka wāwae ma ka honua).
  • ʻO ka atrophy o nā ʻiʻo o ka maka e hoʻolilo ai i ka maka i ʻano lahilahi a ʻoi (maka myopathic) .
  • Nā ʻano ʻino o ka hoʻokele puʻuwai .

Nā Hōʻailona o ka Congenital Myotonic Dystrophy Type 1

Ma muli o kēia ʻano i ka wā hānau, hiki i ka pēpē ke hōʻike i kekahi mau hōʻailona i ka wā e noho ana i loko o ka ʻōpū:

  • Ua emi ka neʻe ʻana o ka fetal i loko o ka ʻōpū.
  • ʻO Polyhydramnios ka nui o ka wai amniotic e hoʻopuni ana i ka ʻōpū i ka wā hāpai.
  • Ka wāwae kalapu ( ka wāwae i hoʻohuli ʻia i loko).
  • ʻO Ventriculomegaly (ka hoʻonui ʻia ʻana o nā ventricles o ka lolo) (ma muli o ka hōʻiliʻili ʻana o ka wai cerebrospinal).

Nā hōʻailona i ʻike ʻia i nā keiki a me nā pākeke ma hope o ka hānau ʻana:

  • Ua like ke ʻano o ka lehelehe luna me he halelewa lā ma muli o ka nāwaliwali o nā ʻiʻo o ka maka.
  • ʻŌlelo pahee (Dysarthria) .
  • Nā kīnā noʻonoʻo.
  • Ma kahi o ka myotonia, ua emi ke kani o nā uaua (Hypotonia) .

Nā Hōʻailona o ka Dystrophy Myotonic Mild Type 1

Hoʻomaka pinepine nā hōʻailona o kēia ʻano ma waena o nā makahiki 20 a me 70. ʻO lākou kekahi:

  • Ka nāwaliwali iki o nā ʻiʻo.
  • Miotonia (Miotonia).
  • Nā maʻi cataract .

Nā Hōʻailona o ka Dystrophy Myotonic o ke Kamaliʻi ʻAno 1

Hoʻomaka pinepine nā hōʻailona o kēia ʻano ma kahi o 10 mau makahiki. ʻO lākou kekahi:

  • Nā pilikia aʻo a me nā pilikia psychosocial (e.g. nā pilikia ʻohana, ke kaumaha, ka hopohopo).
  • ʻŌlelo ʻūlū.
  • ʻO ka myotonia o nā ʻiʻo o nā lima.
  • Nā ʻano ʻino o ka hoʻokele puʻuwai .

Nā Hōʻailona o ka Myotonic Dystrophy Type 2

Hoʻomaka pinepine nā hōʻailona o ke ʻano 2 DM i ka wā makua a hiki ke ʻokoʻa.

Hiki i nā hōʻailona ke komo pū me:

  • Ka nāwaliwali a i ʻole ka paʻa ʻana o nā ʻiʻo kokoke i waenakonu o ke kino (e.g., nā ʻiʻo a puni nā pūhaka a me nā poʻohiwi).
  • ʻEha myofascial (ʻeha i loko o nā ʻiʻo a me nā ʻiʻo pili) .
  • ʻO ka hoʻomaka mua ʻana o nā cataracts (ma mua o 50 mau makahiki).
  • Hiki mai ka myotonia o nā kekelē like ʻole i ka wā e hopu ai i kahi mea me ka lima.
  • Ka hemahema o ka lohe.

He ʻeha nui ka ʻeha i waena o ka poʻe me DM2. Hōʻike kēia poʻe i ka ʻeha ma ka ʻōpū, nā ʻiʻo iwi, a i ka wā e hoʻoikaika kino ana.

He aha ke kumu o ka Myotonic Dystrophy?

He maʻi ʻōiwi ka myotonic dystrophy (DM), ʻo ia hoʻi, ua hoʻoili ʻia mai nā mākua a i nā keiki ma o nā ʻano genes.

Hoʻokumu ʻia ka DM ʻano 1 (DM1) e nā mutations (nā loli) i loko o ka gene i kapa ʻia ʻo DMPK . Hoʻokumu ʻia ka DM ʻano 2 (DM2) e nā mutations i loko o ka gene i kapa ʻia ʻo CNBP .

ʻO nā loli like i ke ʻano o nā genes ʻelua, ʻo DMPK lāua ʻo CNBP, ke kumu o DM1 lāua ʻo DM2. I kēlā me kēia hihia, hana hou ʻia kahi ʻāpana o ka DNA i nā manawa he nui ma ke ʻano ʻē. Hoʻokumu kēia i kahi ʻāpana paʻa ʻole i loko o ka gene. ʻO ka nui o nā manawa e hana hou ʻia ai kēia ʻāpana o ka DNA me ke ʻano ʻē, ʻoi aku ka koʻikoʻi o nā hōʻailona o DM.

Hōʻike nā hōʻike ʻepekema he mea ʻawahia ka RNA ʻelele keu i hana ʻia e kēia mau hana hou ʻana o ka DNA maʻamau. Hoʻopilikia kēia i ka hana ʻana o nā protein like ʻole i loko o nā cell, ʻo ia ke kumu o nā hōʻailona o ka myotonic dystrophy i nā ʻōkana like ʻole.

Pehea e hoʻoili ʻia ai kēia maʻi mai kēlā hanauna a i kēia hanauna (Myotonic Dystrophy Inheritance)

Hoʻoilina ʻia nā ʻano ʻelua o DM ma ke ʻano i kapa ʻia ʻo autosomal dominant . Ma kēia ʻano, hoʻokahi wale nō makua e pono e loaʻa ka gene i hoʻopilikia ʻia no ka hoʻoili ʻana o ka maʻi i kahi keiki. ʻO ka hapalua o nā keiki a kahi makua me kahi ʻano autosomal dominant e hoʻoilina i ke ʻano.

I ka hoʻoili ʻia ʻana o ka myotonic dystrophy type 1 (DM1) mai kekahi hanauna a i kekahi, e ʻōpiopio ana ka makahiki o ka hoʻomaka ʻana a e ʻoi aku ka ʻino o nā hōʻailona. Ua kapa ʻia kēia hanana he anticipation . Me he mea lā e "wikiwiki ana" ka maʻi mai kekahi hanauna a i kekahi.

Pehea e ʻike ʻia ai ka Myotonic Dystrophy? (Diagnosis)

Inā loaʻa iā ʻoe nā hōʻailona o DM, e nānā mua ke kauka iā ʻoe a nīnau iā ʻoe e pili ana i:

  • Kou mōʻaukala lapaʻau pilikino.
  • Ka mōʻaukala lapaʻau ʻohana, ʻoiai inā he DM kekahi o ka ʻohana.
  • Kou mau hōʻailona.

Ma hope o kēlā, hiki ke hana ʻia kekahi mau hoʻokolohua lapaʻau e hōʻoia i ka hōʻoia o DM.

He aha ke ʻano o nā hoʻokolohua e hana ʻia?

Hiki i ka hoʻāʻo ʻana i ka genetic ke hōʻoia i ka maʻi DM. Ke nānā nei kēia mau hoʻāʻo i nā mutations i loko o ka gene DMPK (no DM1) a i ʻole ka gene CNBP (no DM2).

Inā kānalua kāu kauka he DM kou a i ʻole kekahi maʻi ʻē aʻe, hiki iā lākou ke hana i hoʻokahi a ʻoi aku paha o kēia mau hoʻāʻo ma mua o ka kuhikuhi ʻana iā ʻoe no ka hoʻāʻo genetic:

  • Hoʻāʻo koko Creatine kinase: ʻO Creatine kinase kahi enzyme i loaʻa nui i loko o ka puʻuwai a me nā ʻiʻo iwi. Ke hōʻino ʻia kēia mau hunaola ʻiʻo, hōʻiliʻili kēia enzyme i loko o ke koko. Hiki i ka poʻe me DM liʻiliʻi ke loaʻa i kēia pae i kahi kiʻekiʻe iki, a i ʻole he mea maʻamau paha.
  • ʻElekromyogram (EMG):Ma kēia hoʻāʻo, hoʻokomo ʻia kahi electrode lahilahi e like me ke nila i loko o ka ʻiʻo a ana ʻia ka hana uila o nā olonā ʻiʻo. ʻO ka poʻe me DM he hana uila kiʻekiʻe a haʻahaʻa hoʻi i loko o ko lākou mau ʻiʻo, ʻoiai ke hoʻomaha nei lākou.
  • ʻO ka biopsy ʻiʻo: Ma kēia, lawe ke kauka i kahi ʻāpana liʻiliʻi o nā ʻiʻo mai kou ʻiʻo a nānā iā ia ma lalo o kahi microscope e ʻike inā he mau hōʻailona o DM.

E hana ʻia anei nā hoʻokolohua hou aʻe ma hope o ka hōʻoia ʻia ʻana o ka maʻi?

ʻAe, inā hōʻoia kēia mau hoʻokolohua iā DM, hiki i kāu kauka ke ʻōlelo aku i nā hoʻokolohua hou aʻe e nānā i ka hana o kekahi mau ʻōkana i hoʻopilikia ʻia e DM. Eia kekahi laʻana:

  • ʻO kahi hoʻāʻo electrocardiogram (ECG) e nānā i ka hana o ka puʻuwai.
  • Hoʻāʻo ʻia ka hana hana pulmonary e nānā i nā pilikia hanu neuromuscular.
  • He haʻawina hiamoe e nānā ai no ka obstructive sleep apnea a me ka hiamoe nui i ke ao.

Aia kekahi lāʻau lapaʻau no ka Myotonic Dystrophy?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka myotonic dystrophy (DM). No laila, ʻo nā pahuhopu nui o ka mālama ʻana:

  • Ka mālama ʻana i nā hōʻailona.
  • Ka mālama ʻana i ke kūlana kiʻekiʻe loa o ke ola a me ke kūʻokoʻa.

Ma muli o ka hoʻopilikia ʻana o DM i nā ʻāpana like ʻole o ke kino, hiki ke ʻokoʻa nā lāʻau lapaʻau ma muli o kāu mau hōʻailona. Hiki i kēia mau mea ke komo pū me:

  • Nā lāʻau lapaʻau e hōʻemi i ka myotonia mau. No ka laʻana, nā mea pale kahawai sodium e like me Mexiletine , Tricyclic antidepressants , Benzodiazepines , a i ʻole nā ​​​​​​mea kūʻē i ka calcium .
  • ʻO kahi mīkini CPAP e pale ai i ka apnea hiamoe.
  • Nā mea hoʻonāukiuki e like me ka methylphenidate no ka hiamoe nui i ke ao.
  • ʻO ke ʻoki ʻana i ka cataract kahi ʻoki ʻana e wehe ai i kahi cataract e ālai ana i ka ʻike.
  • Lapaʻau no ka maʻi diabetes. Pono paha kēia i nā pila a me/a i ʻole insulin . Loaʻa i ka poʻe me DM ka pilikia nui o ka loaʻa ʻana o ka maʻi diabetes ma muli o ke kūʻē ʻana i ka insulin .
  • ʻO ka lāʻau lapaʻau Testosterone no ka hypogonadism kāne . Loaʻa pinepine i nā kāne me DM1 nā pae testosterone haʻahaʻa a me ka hana erectile dysfunction .

He mau lāʻau lapaʻau koʻikoʻi ka hoʻoikaika kino a me ka hoʻoikaika hana no ka hoʻonui ʻana i ke kūʻokoʻa no ka poʻe me DM. Hiki iā lākou ke kōkua iā ʻoe e hoʻoikaika i kou mau ʻiʻo a aʻo i nā ala hou e hana ai i nā hana o kēlā me kēia lā. Hiki iā ʻoe ke mālama i ke kūʻokoʻa ma ka hoʻohana ʻana i nā mea kōkua (e laʻa, nā pale lima, nā koʻokoʻo, nā noho huila).

Hiki i ka pathology ʻōlelo-ʻōlelo (SLP) ke kōkua i nā pilikia ale (Dysphagia) a me ka ʻōlelo slurred (Dysarthria) .

Hiki ke pale ʻia ka ulu ʻana o ka myotonic dystrophy?

ʻOiai he maʻi hoʻoilina ʻo DM, ʻaʻohe mea hiki iā ʻoe ke hana e pale aku ai.

Ma mua o kou loaʻa ʻana o kahi keiki, inā ʻoe e hopohopo nei e pili ana i ka pilikia o ka hoʻoili ʻana i ka DM a i ʻole nā ​​​​maʻi genetic ʻē aʻe i kāu mau keiki, e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i nā genetics .

He aha ka wānana no kēia maʻi?

ʻO ka nānā ʻana no ka myotonic dystrophy (DM) e pili ana i ke ʻano o ka maʻi a me ka makahiki e hoʻomaka ai nā hōʻailona. Ma ke ʻano laulā, inā hoʻomaka nā hōʻailona i ka wā ʻōpiopio, ʻaʻole paha e maikaʻi ka hopena a hiki ke hoʻemi ʻia ka manaʻolana o ke ola.

Ma kahi o 50% o ka poʻe me DM1 e pono ai kahi noho huila e hele ai ma mua o ko lākou make ʻana. ʻAʻole pono ka poʻe me DM2 i nā mea kōkua e hele ai no ka mea he akahai ko lākou mau hōʻailona.

He aha ke kūlana o ke ola o kekahi kanaka me ka Myotonic Dystrophy?

ʻOkoʻa ke ola maʻamau o kekahi me DM ma muli o ke ʻano o ka maʻi.

  • Ma waena o nā pēpē me DM1 hānau ʻia, ʻo ka nui o ka make ʻana o ka pēpē hānau hou ma kahi o 18%. Ma kahi o 25% o ka poʻe me DM1 hānau ʻia e make ma mua o 18 mau mahina o ka makahiki, a ma kahi o 50% e make ma mua o 30 mau makahiki.
  • ʻO ka poʻe me ka DM1 ʻoluʻolu ke ola i kahi ola maʻamau.
  • ʻOi aku ka pōkole o ke ola o ka poʻe me ka Classic DM1 ma mua o ka heluna kanaka maʻamau.

Hiki i ka Myotonic Dystrophy ke lilo i mea make?

ʻAe, hiki i ka myotonic dystrophy (DM) ke make. Eia nō naʻe, ʻokoʻa ka makahiki e make ai ma muli o ke ʻano o ka maʻi. ʻO ke kumu nui o ka make ʻana ma DM, ʻo ia ka neuromuscular-associated respiratory failure . Hiki i nā pilikia cardiovascular ke lilo i kumu o ka make.

Āhea ʻoe e ʻike ai i ke kauka e pili ana i ka myotonic dystrophy?

Inā loaʻa iā ʻoe nā hōʻailona o DM, e like me ka nāwaliwali o nā ʻiʻo a me ka myotonia, e ʻike pono i ke kauka.

Inā loaʻa iā ʻoe ʻo DM, pono ʻoe e hālāwai me kāu hui lapaʻau i kēlā me kēia manawa e hōʻoia i ka hana pono ʻana o kāu hoʻolālā lapaʻau o kēia manawa.

Ke loaʻa iā ʻoe a i ʻole kāu keiki kahi maʻi hou, hiki ke paʻakikī ke hoʻomanawanui. Akā e hoʻomanaʻo, ʻaʻole i hoʻopilikia ʻia nā kānaka a pau me ka myotonic dystrophy (DM) i ke ala like. ʻO ka mea maikaʻi loa hiki iā ʻoe ke hana, ʻo ia ke kamaʻilio me kahi loea e noiʻi a mālama iā DM. Hiki iā lākou ke haʻi iā ʻoe e pili ana i nā koho lapaʻau a pane i nā nīnau āu e loaʻa ai.

E hoʻomanaʻo kākou i ka mea a kākou i kamaʻilio ai ma ke ʻano he hōʻuluʻulu manaʻo (Leka Lawe-Home)

  • ʻO ka myotonic dystrophy (DM) kahi maʻi genetic e hoʻoulu ai i ka nāwaliwali o nā ʻiʻo a me ka nawaliwali.
  • ʻO ka Myotonia kahi ʻano e paʻakikī ai i nā ʻiʻo ke hoʻomaha ma hope o ka hoʻohana ʻana.
  • ʻElua ʻano nui o DM: DM1 a me DM2 . Loaʻa iā DM1 nā ʻano ʻē aʻe.
  • Hiki ke ʻokoʻa nā hōʻailona ma muli o ke ʻano o DM a mai ke kanaka a i ke kanaka.
  • ʻO kēia ke kumu o nā mutations i loko o nā genes.
  • Hoʻomaopopo ʻia ka maʻi ma o ka hoʻāʻo genetic a me nā hoʻokolohua ʻē aʻe.
  • ʻOiai ʻaʻohe lāʻau lapaʻau piha, aia nā lāʻau lapaʻau e hiki ke hoʻokele i nā hōʻailona a hoʻomaikaʻi i ka maikaʻi o ke ola.
  • Inā he kānalua kou no kēia, e ʻimi koke i ke kōkua lapaʻau. He mea nui loa ka ʻike mua ʻana.

Manaʻolana wau he mea pono kēia ʻike iā ʻoe. E ola kino!


ʻO ka Dystrophy Myotonic, Nāwaliwali o nā ʻiʻo, nā maʻi genetic, Myotonic Dystrophy, nā maʻi ʻiʻo, DM, nā maʻi neurological

Frequently Asked Questions (FAQ)

E hana ʻia anei nā hoʻokolohua hou aʻe ma hope o ka hōʻoia ʻia ʻana o ka maʻi?

ʻAe, inā hōʻoia kēia mau hoʻokolohua iā DM, hiki i kāu kauka ke ʻōlelo aku i nā hoʻokolohua hou aʻe e nānā i ka hana o kekahi mau ʻōkana i hoʻopilikia ʻia e DM. Eia kekahi laʻana:

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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