Hula anei nā ʻiʻo o kou kino? Neʻe anei lākou e like me nā nalu? E aʻo kākou e pili ana i ka Rippling Muscle Disease!

Ua ʻike paha ʻoe a i ʻole ua manaʻo paha i kou mau ʻiʻo e ʻoni koke ana, me he mea lā e hele ana i loko o nā nalu, a i ʻole ua hui pū lākou a pau? I kekahi manawa manaʻo paha ʻoe he mea ʻē aʻe ia, akā he hōʻailona paha ia o kahi maʻi kakaʻikahi akā koʻikoʻi e makaʻala ai. ʻO ia ka mea a mākou e kamaʻilio ai i kēia lā, ʻo ia hoʻi ka Rippling Muscle Disease . Mai hopohopo, e mālama kākou i ka maʻalahi.

He aha ka maʻi ʻiʻo Rippling?

I ka ʻōlelo maʻalahi, ʻo ka Rippling Muscle Disease kahi maʻi kakaikahi e hoʻopilikia ai i kā mākou ʻōnaehana nerve a me nā ʻiʻo. Ua kapa pū nā kauka iā ia he maʻi neuromuscular . Ma kēia, hoʻopaʻa pinepine a hiki ʻole ke kāohi ʻia ko mākou mau ʻiʻo, e hoʻolilo ana iā lākou i ʻoʻoleʻa a i kekahi manawa e ulu nui, ʻo ia ka mea i kapa ʻia ʻo hypertrophy .

Hoʻomaka pinepine kēia mau hōʻailona i ka wā kamaliʻi a i ʻole ka wā ʻōpio, akā he mea nui e hoʻomanaʻo e hiki ke ʻike ʻia ke ʻano i kekahi manawa i kēlā me kēia makahiki.

He aha nā hōʻailona o kēia maʻi? He aha ka mea e hana nei?

E like me ka inoa e hōʻike nei, hoʻopilikia nui ka Rippling Muscle Disease i ko mākou mau ʻiʻo, ʻoiai nā ʻiʻo kokoke loa i waenakonu o ko mākou kino (nā ʻiʻo proximal) . ʻOi aku ka pololei, ʻo nā ʻiʻo ma ko mākou mau ʻūhā (quadriceps) ka mea i hoʻopilikia nui ʻia.

Inā loaʻa iā ʻoe (RMD), ʻo ia hoʻi he "hoʻonāukiuki" a "hoʻonāukiuki koke paha kou mau ʻiʻo." ʻO ke ʻano kēia, pane like ʻole kou mau ʻiʻo i ka pā iki a i ʻole ke kaomi.

ʻO nā hōʻailona maʻamau o kēia maʻi:

• Puʻu ʻiʻo: I ka pololei, hōʻuluʻulu kou ʻiʻo ma kahi hoʻokahi a lilo e like me ka "puʻu".
• Ka hoʻopaʻa hou ʻana o nā ʻiʻo: Hiki i kēia ke mau no 30 kekona.

ʻIke pinepine ʻia kēia mau hōʻailona ʻelua ke paʻi koke kekahi mea i kou ʻūhā, e like me ke kuʻi ʻana i kahi mea. Eia kekahi laʻana, inā kuʻi ʻoe i kahi puka, hiki i kou ʻūhā ke paʻa koke a ʻoʻoleʻa.

Ma kahi o 60% o ka poʻe me RMD e ʻike i ka ʻūlū ʻana o nā ʻiʻo. He ʻūlū ʻana kēia o ka ʻiʻo e like me nā ilo e kolo ana ma lalo o ka ʻili. He 5 a 20 kekona ka lōʻihi o kēia. Hana pinepine ʻia kēia ke hoʻolōʻihi ʻoe i kahi ʻiʻo.

ʻO nā hōʻailona ʻē aʻe e ʻike ʻia paha:

• Luhi: ʻAʻole wale ka luhi, akā, ka luhi nui e hiki mai me ke kumu ʻole.
• ʻEhaʻeha ʻiʻo: He ʻeha koke a koʻikoʻi nā ʻiʻo e hoʻoulu ai i ka ʻeha nui.
• ʻOʻoleʻa o nā ʻiʻo:He mea paʻakikī ke kulou a wehe paha i ka ʻiʻo.

Hiki ke ʻoi aku ka ʻino o kēia mau hōʻailona ma hope o ka hoʻoikaika kino nui a i ʻole ke anu. I kekahi poʻe, hiki i kekahi o nā ʻiʻo ke lilo i mea nui ʻole (hypertrophy) a hiki ke loli iki ke ʻano o ka hele wāwae (atypical gait) .

He ʻeha anei kēia maʻi?

ʻAe, hiki i ka (Rippling Muscle Disease) ke hōʻeha i nā ʻiʻo. ʻOi loa aku i ka wā e hoʻomau mau ana ka ʻiʻo, ʻoi aku ka ikaika o ka ʻeha inā mau ia no kekahi manawa. Eia kekahi, i ka wā e ʻōwili ana ka ʻiʻo (cramps) loaʻa ka ʻeha. E noʻonoʻo i ka paʻakikī inā paʻa mau kahi ʻiʻo i kou wāwae.

He aha ke kumu o ka maʻi ʻiʻo Rippling?

Hoʻoulu pinepine ʻia ka maʻi ʻiʻo Rippling e nā mutations i loko o kahi gene i kapa ʻia ʻo CAV3, ka mea a mākou e hoʻoilina ai mai ko mākou mau mākua. Ke haʻi aku nei ka gene CAV3 i ko mākou kino e hana i kahi protein i kapa ʻia ʻo caveolin-3 . Loaʻa kēia protein i loko o ka membrane a puni nā cell muscle. Manaʻo pū kekahi nā kānaka noiʻi e kōkua kēia protein i ka hoʻomalu ʻana i nā pae calcium , ka mea e kōkua ai i nā ʻiʻo e ʻūlū a hoʻolōʻihi.

I loko o ka poʻe me RMD, ʻo ka mutation i loko o ka gene CAV3 ke kumu o ka emi ʻana o ka hana ʻana o ka protein caveolin-3. Manaʻo nā kānaka noiʻi ʻo kēia hemahema o ka protein ke kumu o ka hoʻoponopono pono ʻole ʻia ʻana o nā pae calcium i loko o nā ʻiʻo. ʻO ka hopena, ʻūlū nā ʻiʻo i ka pane ʻana i kahi paʻi iki a huki paha.

Aia kekahi mau ʻano hoʻololi i loko o kēia gene (CAV3). ʻO nā maʻi e pili ana i nā ʻōpū ʻiʻo i hoʻokumu ʻia e kēia mau hoʻololi gene ua kapa ʻia ʻo (caveolinopathies) . Ma waho aʻe o (RMD), aia kekahi mau maʻi ʻē aʻe e pili ana i kēia hui:

• (Autosomal dominant limb-girdle muscular dystrophy) (i ʻike mua ʻia ʻo LGMD1C)
• (Hypertrophic cardiomyopathy) (He maʻi puʻuwai kēia)
• (HyperCKemia i hoʻokaʻawale ʻia) (ʻO ke ʻano kahi i hoʻokiʻekiʻe ʻia ai ka enzyme creatine kinase i loko o ke koko)
• (CAV3-related distal myopathy) (kahi maʻi e hoʻopilikia ana i nā ʻiʻo ma nā ʻaoʻao distal)

I kēia mau kūlana, i kekahi manawa hiki ke ʻike ʻia nā hōʻailona e like me nā ʻūlū ʻana o nā ʻiʻo, e like me nā wrinkles, ma ka RMD.

Eia kekahi, ua hōʻike ʻia kahi ʻano autoimmune o ka Rippling Muscle Disease, kahi e kū mai me ka maʻi autoimmune Myasthenia gravis . ʻAʻohe o kēlā poʻe i ka mutation gene CAV3. ʻO ia hoʻi, hoʻouka kā lākou ʻōnaehana pale ponoʻī i nā olonā ʻiʻo.

Pehea lā e loaʻa ai iā kākou kēia (Maʻi ʻIʻo Rippling)?

I ka hapanui o nā hihia, ua hoʻoilina ʻia ka maʻi ʻiʻo Rippling ma ke ʻano autosomal dominant . I ka ʻōlelo maʻalahi, ʻo ia hoʻi hiki iā ʻoe ke loaʻa i ka maʻi inā hoʻoilina ʻoe i hoʻokahi kope o ka gene CAV3 i hoʻololi ʻia mai kou makuahine a makua paha. Hiki ke hana ʻia ʻoiai inā hoʻokahi wale nō gene āu.

I nā hihia kakaikahi, hiki ke hoʻoilina ʻia ka RMD ma ke ʻano autosomal recessive . ʻO ke ʻano kēia, pono ʻoe e hoʻoilina i ʻelua kope o ka gene CAV3 i hoʻololi ʻia, mai kou makuahine a me kou makuakāne.

ʻO ka poʻe i loaʻa i ka maʻi Rippling Muscle Disease ma ke ʻano autosomal recessive e loaʻa iki paha nā hōʻailona ʻoi aku ka koʻikoʻi ma mua o ka poʻe i loaʻa i ke ʻano autosomal dominant.

He mea kākaʻikahi loa, hiki ke loaʻa ka RMD ma muli o nā mutations hou, me ka ʻole o ka mōʻaukala ʻohana. ʻO ke ʻano kēia, hiki i kēia kīnā genetic ke kū mai i loko o ke kino o ke kanaka no ka manawa mua, me ka ʻole o ka hoʻoilina ʻia mai ko lākou mau mākua mai.

Pehea e ʻike pololei ai nā kauka i ka maʻi ʻiʻo Rippling?

Hoʻohana nā kauka i kēia mau hoʻokolohua a me nā kaʻina hana e ʻike ai i ka maʻi Rippling Muscle Disease, akā ʻaʻole pono nā kānaka a pau e hana i kēia mau mea a pau.

• Mōʻaukala lapaʻau: E nīnau ke kauka e pili ana i kāu mau hōʻailona a inā paha ua loaʻa i kekahi o kou ʻohana ka RMD a i ʻole nā ​​​​caveolinopathies ʻē aʻe.
• Nā hoʻokolohua kino a me nā neurological: E nānā ke kauka i ke kūlana o kou mau ʻiʻo a me ka hana aʻalolo.
• Hoʻāʻo koko Creatine kinase: Ke hōʻino ʻia nā ʻiʻo, hoʻonui ʻia kēia enzyme (creatine kinase) i loko o ke koko.
• Electromyography (EMG): Hoʻāʻo kēia i ka hana uila o nā olonā ʻiʻo.
• Biopsy ʻiʻo: Lawe ʻia kahi ʻāpana liʻiliʻi o nā ʻiʻo a nānā ʻia ma lalo o kahi microscope.
• Nā hoʻokolohua antibody: Hana ʻia kēia mau hoʻokolohua e ʻike inā he autoimmune ka (RMD).
• Ka hoʻāʻo ʻana i ka genetics: ʻO kēia ke ala maikaʻi loa e ʻike ai inā he mau loli i loko o ka gene (CAV3).

Kōkua kēia mau hoʻokolohua i ka hoʻopau ʻana i nā maʻi ʻē aʻe me nā hōʻailona like a hōʻoia i ka Rippling Muscle Disease.

I ka wā o ke kaʻina hana hōʻoia, hiki i kāu kauka ke kuhikuhi iā ʻoe i kahi loea, e like me ke neurologist a i ʻole he geneticist .

He aha nā lāʻau lapaʻau no kēia?

ʻO ka lāʻau lapaʻau no ka Rippling Muscle Disease e pili ana i ka mea he genetic a autoimmune paha.

Lapaʻau hoʻoilina:

ʻO ke kumu nui o kēia, ʻo ia ka kaohi ʻana i nā hōʻailona a me ka kuhikuhi ʻana no ke aʻoaʻo genetic . Inā koʻikoʻi loa ka ʻōwili ʻana a i ʻole ka emi ʻana o nā testicles, hiki i kekahi mau lāʻau lapaʻau ke kōkua. ʻO ia mau lāʻau lapaʻau:

• (Dantrolene): He lāʻau hoʻomaha ʻiʻo kēia.
• (Nā mea kū'ē i ke kahawai calcium):ʻO kēia nā lāʻau lapaʻau e ālai ana i nā kahawai calcium.
• Benzodiazepines: Hoʻomaha kēia i nā ʻiʻo a hōʻemi i ka hopohopo.

Lāʻau lapaʻau autoimmune:

Hiki ke mālama ʻia kēia me ka lāʻau immunosuppressive , a inā he thymoma kou (kahi puʻupuʻu i loko o ka thymus gland), hiki ke hana ʻia ke ʻoki ʻana e wehe i ka thymus gland (thymectomy) .

Hiki iā kākou ke pale aku i kēia (Rippling Muscle Disease) mai ka ulu ʻana?

No ka mea, he maʻi hoʻoilina ka Rippling Muscle Disease, ʻaʻohe mea hiki iā mākou ke hana e pale aku ai. ʻAʻole ia he mea hiki iā mākou ke kaohi.

Eia nō naʻe, inā ʻoe e hopohopo nei e pili ana i ka pilikia o ka hoʻoili ʻana i ka RMD a i ʻole nā ​​​​maʻi genetic ʻē aʻe i kāu keiki ma mua o kou loaʻa ʻana o kahi keiki, he mea nui loa ia e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i ka genetic i hiki iā ʻoe ke loaʻa kahi ʻike maopopo.

Āhea wau e ʻike ai i ke kauka?

• Inā e ʻoi aku ka ʻino o kāu mau hōʻailona RMD , a inā paha e loaʻa pinepine lākou , e kamaʻilio me kāu kauka.
• Inā ua ʻike ʻia kekahi o kou ʻohana me ka Rippling Muscle Disease, e nīnau i kāu kauka inā ʻoe a i ʻole nā ​​​​lālā ʻē aʻe o ka ʻohana e loaʻa i kēia maʻi.

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

Hiki paha iā ʻoe ke nīnau i kāu kauka i kēia mau nīnau:

• He aha kaʻu e hana ai e mālama i kaʻu mau hōʻailona?
• He aha ke ʻano lapaʻau kūpono loa iaʻu?
• Hiki i kaʻu mau keiki ke hoʻoilina i ka maʻi ʻiʻo Rippling mai iaʻu?
• Pono anei e hoʻāʻo ʻia nā lālā ʻē aʻe o koʻu ʻohana no ka Rippling Muscle Disease?

Ma ka nīnau ʻana i kēia mau nīnau, e hiki iā ʻoe ke hoʻomaopopo maikaʻi aʻe i kēia kūlana.

Ke hoʻopilikia nei ka maʻi ʻiʻo Rippling i ka puʻuwai?

ʻAʻole pili pololei ka maʻi ʻiʻo Rippling i ka puʻuwai. Eia nō naʻe, ʻo ka RMD a me ka hypertrophic cardiomyopathy ua hoʻokumu ʻia e nā mutations i loko o ka gene like (CAV3), no laila aia kahi pilina ma waena o nā maʻi ʻelua. ʻOiai he mea kakaikahi loa, hiki i nā mutations i loko o ka gene CAV3 ke hoʻopilikia i ka ʻiʻo puʻuwai a me nā ʻiʻo ʻē aʻe i loko o ke kino. Akā he mea kakaikahi loa ia.

He mea make anei ka (Rippling Muscle Disease)?

ʻAʻole ia he mea make ka maʻi ʻiʻo Rippling. ʻO ia hoʻi, ʻaʻole ia he mea hoʻoweliweli i ke ola. Eia nō naʻe, ʻo nā hōʻailona o (RMD) e like me nā ʻūlū ʻiʻo e like me nā wrinkles hiki ke lilo i hōʻailona o nā maʻi ʻē aʻe (caveolinopathies) i hoʻokumu ʻia e nā mutations gene i ʻōlelo ʻia ma luna (CAV3).

No nā caveolinopathies, ʻo nā hihia koʻikoʻi o ka autosomal dominant limb-girdle muscular dystrophy a me ka hypertrophic cardiomyopathy hiki i kekahi manawa ke hoʻoweliweli i ke ola.

He mea maʻamau ke kaumaha ke ʻike ʻia ʻoe he maʻi genetic, ʻoiai he mea kakaikahi. Akā e hoʻomanaʻo, eia kāu hui lapaʻau e wehewehe iā ʻoe i ka Rippling Muscle Disease, e haʻi iā ʻoe pehea e pili ai iā ʻoe, a kōkua iā ʻoe e ʻike i ke ala maikaʻi loa e hoʻokele ai i kāu mau hōʻailona.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

ʻAe, i kēia manawa ua loaʻa iā ʻoe kekahi ʻike o ka mea a mākou i kamaʻilio ai (Rippling Muscle Disease). I ka hōʻuluʻulu manaʻo:

• ʻO ka Maʻi ʻIʻo Rippling kahi maʻi ʻiʻo laha ʻole i hōʻike ʻia e ka ʻoniʻoni ʻana o nā ʻiʻo, ka ʻūmiʻi ʻana, ka ʻoʻoleʻa, a me ka wili ʻana.
• ʻO ka hapa pinepine, hoʻokumu ʻia kēia e nā kumu genetic (gene CAV3) . I kekahi manawa, aia paha nā kumu autoimmune pū kekahi.
• ʻAʻole kēia he maʻi make . Eia nō naʻe, hiki i kekahi o nā caveolinopathies ʻē aʻe e pili ana me ia ke koʻikoʻi.
• Inā loaʻa iā ʻoe kēia mau hōʻailona, ​​​​mai hopohopo a e ʻimi i ke aʻo lapaʻau . ʻO ka mea nui loa, ʻo ia ka loaʻa ʻana o kahi hōʻailona pololei a loaʻa i ka lāʻau lapaʻau a me nā ʻōlelo aʻoaʻo e pono ai.
• Hiki ke kōkua nui ke aʻoaʻo genetic i nā kūlana e like me kēia.

Inā makemake ʻoe e ʻike hou aʻe e pili ana i kēia, a inā manaʻo ʻoe he mau hōʻailona kēia, e ʻoluʻolu e ʻike i ke kauka. Mai makaʻu, aia nā hopena no nā mea āpau.

ʻO ka maʻi ʻiʻo Rippling, ka ʻūlū ʻana o nā ʻiʻo, ka ʻūmiʻi ʻana o nā ʻiʻo, ka gene CAV3, ka ʻeha o nā ʻiʻo, nā maʻi genetic, nā maʻi autoimmune