ka muscular dystrophies pili i ka ʻohana o nā maʻi muscular i hōʻike ʻia e ka nāwaliwali a me ka holomua ʻana o ka muscular degeneration: degenerate nā fibers o nā ʻiʻo o ke kino. E atrophy mālie nā ʻiʻo, ʻo ia hoʻi, nalowale ko lākou leo ​​a no laila ko lākou ikaika.

ʻO ia mau maʻi Original ke kupa hiki ke ʻike ʻia i kēlā me kēia makahiki: mai ka hānau ʻana, i ka wā kamaliʻi a i ka wā makua paha. Aia ma mua o 30 mau ʻano ʻokoʻa i ka makahiki o ka hoʻomaka ʻana o nā hōʻailona, ​​ke ʻano o nā ʻiʻo i hoʻopilikia ʻia a me ke koʻikoʻi. ʻO ka hapa nui o nā muscular dystrophies e piʻi nui ana. I kēia manawa, ʻaʻohe lāʻau lapaʻau. ʻO ka mea kaulana loa a maʻamau o nā muscular dystrophies ʻO Duchenne muscular dystrophy, i kapa ʻia ʻo "Duchenne muscular dystrophy".

I loko o ka muscular dystrophy, ʻo nā ʻiʻo i hoʻopili ʻia i ka muscular dystrophy ka mea nui e ʻae i ka nā neʻe manawaleʻa, kūikawā nā mākala, ʻūhā, wāwae, lima a me nā lima lima. I kekahi mau dystrophies, hiki ke hoʻopili ʻia nā ʻiʻo hanu a me ka puʻuwai. Hiki i ka poʻe me ka muscular dystrophy ke nalo mālie i ko lākou hele wāwae. Hiki ke pili i nā hōʻailona ʻē aʻe me ka nāwaliwali o ka ʻiʻo, ʻo ia hoʻi ka naʻau, ka ʻōpū, nā pilikia maka, etc.

ʻO ke kuhikuhina

ka muscular dystrophies i waena o nā maʻi kakaʻikahi a me nā keiki makua ʻole. He paʻakikī ke ʻike i ke alapine pololei, no ka mea, hui pū ia i nā maʻi like ʻole. Manaʻo kekahi mau haʻawina e loaʻa ana ma kahi o 1 i 3 mau kānaka.

No ka mea, exemple:

• La myopathy duchenne¹ duchenne¹pili i hoʻokahi ma 3500 mau keikikāne.
• Hoʻopilikia ka maʻi muscular dystrophy o Becker i 1 i 18 mau keikikāne²,
• Hoʻopilikia ka Facioscapulohumeral dystrophy ma kahi o 1 i 20 mau kānaka.
• La maladie d'Emery-Dreifuss, pili i ka 1 i loko o 300 poʻe a hoʻoulu i ka hoʻihoʻi ʻana o ka tendon a me ka pōʻino o ka ʻiʻo puʻuwai

ʻOi aku ka maʻamau o kekahi mau muscular dystrophies ma kekahi mau wahi o ka honua. No laila: 

• ʻO ka mea i kapa ʻia ʻo Fukuyama congenital myopathy e pili nui ana iā Iapana.
• Ma Quebec, ma kekahi ʻaoʻao, ʻo ia oculopharyngeal muscular dystrophy ʻo ia ka mea nui (1 hihia no 1 poʻe), ʻoiai kakaʻikahi loa ia ma ke koena o ka honua (000 hihia no 1 ma ka awelika¹) E like me ka inoa i hōʻike ʻia, pili nui kēia maʻi i nā ʻiʻo o ka lihilihi a me ka puʻu.
• No kāna ʻāpana, ka ʻO ka maʻi o Steinert a i ʻole "Steinert's myotonia", he mea maʻamau ia ma ka ʻāina ʻo Saguenay-Lac St-Jean, kahi e hoʻopilikia ai ma kahi o 1 i 500 poʻe.
• ka sarcoglycanopathies ʻoi aku ka maʻamau ma ʻApelika ʻĀkau a pili i hoʻokahi ma 200 poʻe ma ka ʻākau hikina o Italia.
• ʻO Calpainopathies ua wehewehe mua ʻia ma ka mokupuni ʻo Reunion. Hoʻokahi ma 200 poʻe i hoʻopilikia ʻia.

Nā kumu

ka muscular dystrophies ua nā maʻi genetic, 'o ia ho'i, no ka anomaly (a i 'ole ka mutation) o kekahi gene e pono ai no ka hana pono o na 'i'o a i 'ole ko lakou ulu ana. Ke hoʻololi ʻia kēia ʻano, ʻaʻole hiki i nā ʻiʻo ke hana maʻamau, nalowale ko lākou ikaika a me ka atrophy.

Hoʻopili ʻia nā ʻano genes ʻokoʻa i loko o ka muscular dystrophies. ʻO ka pinepine, he mau genes kēia e "hana" i nā protein i loaʻa i ka membrane o nā ʻiʻo muscle.³.

No ka mea, exemple:

• Hoʻopili ʻia ʻo Duchenne muscular dystrophy myopathy i kahi hemahema dystrophine, he pūmua i loaʻa ma lalo o ka membrane o nā ʻiʻo ʻiʻo a he mea nui ia i ka ʻoki ʻana o ka ʻiʻo.
• Ma kahi kokoke i ka hapalua o nā dystrophies muscular congenital (e ʻike ʻia ma ka hānau ʻana), he hemahema ia merosine, he mea hoʻohui o ka membrane o nā ʻiʻo ʻiʻo, e pili ana.

E like me nā mea he nui nā maʻi genetic, Hoʻouna pinepine ʻia nā muscular dystrophies e nā mākua i kā lākou mau keiki. ʻOi aku ka liʻiliʻi, hiki iā lākou ke "hōʻike" me ka manawaleʻa, ke hoʻololi ʻole ke ʻano. I kēia hihia, ʻaʻole i loaʻa ka gene maʻi i nā mākua a i ʻole nā ​​​​ʻohana ʻē aʻe.

ʻO ka hapa nui o ka manawa, ka dystrophy muscular lawe ʻia ma ke ʻano hoʻomaha hou. ʻO ia hoʻi, no ka hōʻike ʻia ʻana o ka maʻi, pono nā mākua ʻelua e lawe a hāʻawi i ka gene abnormal i ke keiki. Akā ʻaʻole ʻike ʻia ka maʻi iā ia iho i nā mākua, no ka mea, lawe kēlā me kēia i hoʻokahi wale nō genes makua ʻino a ʻaʻole ʻelua mau genes makua ʻole. Eia naʻe, lawa ka gene maʻamau hoʻokahi no ka hana maʻamau o nā ʻiʻo.

Eia kekahi, pili wale kekahi mau dystrophies i ka keikikane : ʻO kēia ka hihia me Duchenne muscular dystrophy a me Becker's muscular dystrophy. Ma nā hihia ʻelua, aia ka gene i loko o kēia mau maʻi ʻelua ma ka X chromosome i loaʻa i kahi kope hoʻokahi i nā kāne.

ʻElua ʻohana nui

ʻElua mau ʻohana nui o ka muscular dystrophies:

- ka muscular dystrophies aku nei au kumulela (DMC), i ʻike ʻia i nā mahina 6 mua o ke ola. Aia ma kahi o ʻumi mau ʻano o ia mea, ʻokoʻa ke ʻano o ke koʻikoʻi, me ka CMD me ka merosin deficiency mua, Ullrich's CMD, stiff spine syndrome a me Walker-Warburg syndrome;

- ka muscular dystrophies ʻike ʻia ma hope o ka wā kamaliʻi a makua paha, i mau laʻana³ :

• ʻO Duchenne muscular dystrophy
• ʻO ka myopathy o Becker
• Emery-Dreyfuss myopathy (he nui nā ʻano)
• ʻO Facioscapulo-humeral myopathy, i kapa ʻia ʻo Landouzy-Déjerine myopathy
• ʻO nā myopathies o nā kāʻei, i kapa ʻia, no ka mea, pili nui lākou i nā ʻiʻo e pili ana i nā poʻohiwi a me nā pūhaka.
• Myotonic dystrophies (ʻano I a me II), me ka maʻi o Steinert. Hōʻike ʻia lākou e a myotonie, ʻo ia hoʻi, ʻaʻole hoʻomaha maʻamau nā ʻiʻo ma hope o ka ʻoki ʻana.
• Oculopharyngeal myopathy

Evolution

Ko ka ʻōiwi kau o muscular dystrophies he loli loa mai kekahi ʻano a i kekahi ʻano, akā mai kekahi kanaka a i kekahi. Ke ulu wikiwiki nei kekahi mau ʻano, e alakaʻi ana i ka nalo mua ʻana o ka neʻe ʻana a me ka hele ʻana a i kekahi manawa ka maʻi maʻi maʻi a i ʻole nā ​​​​pilikia hanu, aʻo nā mea ʻē aʻe e ulu mālie loa i nā makahiki he mau makahiki. ʻO ka hapa nui o nā muscular dystrophies congenital, no ka laʻana, he liʻiliʻi a ʻaʻohe holomua paha, ʻoiai hiki ke paʻakikī koke nā hōʻailona.³.

Nā pilikia

ʻOkoʻa loa nā pilikia ma muli o ke ʻano o ka muscular dystrophy. Hiki i kekahi mau dystrophies ke hoʻopilikia i nā ʻiʻo hanu a i ʻole ka puʻuwai, i kekahi manawa me nā hopena koʻikoʻi.

pela, pilikia puʻuwai He mea maʻamau, ʻoi aku i nā keikikāne me Duchenne muscular dystrophy.

Eia kekahi,ʻo hoʻohaʻahaʻa ʻiʻo hiki i ka poʻe maʻi ke loaʻa i ka scoliosis. ʻIke pinepine ʻia ka pōkole o nā ʻiʻo a me nā tendon, e hopena ka hoʻihoʻi ʻana o ka ʻiʻo (a i ʻole nā ​​tendon). ʻO kēia mau hoʻouka like ʻole ka hopena i nā deformities hui: huli nā wāwae a me nā lima i loko a i lalo, ʻeha nā kuli a i ʻole nā ​​kuʻekuʻe ...

ʻO ka hope, he mea maʻamau ka maʻi e hele pū me ka hopohopo a i ʻole nā ​​pilikia kaumaha pono e malamaia.