Myotonia congenita

ʻO Myotonia congenita kahi kūlana hoʻoilina e pili ana i ka hoʻomaha ʻana o nā mākala. He hānau hānau ia, ʻo ia hoʻi mai ka wā hānau mai. Kū pinepine pinepine ia ma ka ʻākau ʻo Scandinavia.

Hoʻokumu ʻia ʻo Myotonia congenita e kahi loli (hoʻololi). Ua hoʻoili ʻia mai kekahi a i ʻole nā ​​mākua ʻelua i kā lākou keiki (hoʻoilina).

Hoʻokumu ʻia ka Myotonia congenita e kahi pilikia i ka ʻāpana o nā hunaola mākala e pono ai no ka hoʻomaha ʻana o nāʻiʻo. Kū nā hōʻailona uila pinepine ʻole i nā mākala, e hoʻomaka ana i ka ʻoʻoleʻa i kapa ʻia ʻo myotonia.

ʻO ka hiʻohiʻona o kēia ʻano myotonia. ʻO kēia ka hiki ʻole i nāʻiʻo ke hoʻomaha wikiwiki ma hope o ka ʻaelike ʻana. ʻO kahi laʻana, ma hope o ka lūlū lima ʻana, hiki i ke kanaka ke lohi wale i ka wehe a huki i ko lākou lima.

Pākuʻi ʻia paha nā ʻōuli mua:

• Pilikia i ka ale ʻana
• ʻO Gagging
• ʻO nā neʻe paʻakikī e hoʻomaikaʻi ke hoʻomaikaʻi hou ʻia
• Ka hanu ʻana a i ʻole ke ʻūikiʻi ʻana o ka umauma i ka hoʻomaka o ka hoʻoikaika kino
• Hāʻule pinepine
• ʻO ka wehe ʻana i nā maka ma hope o ka hoʻoikaika ʻana iā lākou i paʻa a uē paha

ʻO nā keiki me ka myotonia congenita ke nānā pinepine i ka muscular a hoʻomohala maikaʻi. ʻAʻohe o lākou mau ʻōuli o ka myotonia congenita a hiki i ka makahiki 2 a i ʻole 3.

E nīnau paha ka mea mālama ola inā aia kekahi moʻolelo ʻohana o myotonia congenita.

Loaʻa i nā hoʻāʻo:

• Electromyography (EMG, kahi hōʻike o ka hana uila o nā mākala)
• Ke hoʻāʻo genetic
• ʻO Biopsy Muscle

ʻO Mexiletine kahi lāʻau e mālama i nā hōʻailona o ka myotonia congenita. ʻO nā ʻano lāʻau ʻē aʻe kekahi:

• ʻO Phenytoin
• Procainamide
• Quinine (hoʻohana pinepine ʻole ʻia i kēia manawa, ma muli o nā hopena ʻaoʻao)
• ʻO Tocainide
• ʻO Carbamazepine

Nā Pūʻulu Kākoʻo

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻike hou aku e pili ana i ka myotonia congenita:

• Pūʻulu Dystrophy Muscular - www.mda.org/disease/myotonia-congenita
• NIH Genetics Home Reference - ghr.nlm.nih.gov/condition/myotonia-congenita

Hiki i nā poʻe me kēia ʻano ke hana maikaʻi. Kū wale nā ​​ʻōuli ke hoʻomaka mua kahi neʻe. Ma hope o kekahi mau hana hou, hoʻomaha kaʻiʻo a hele a maʻamau ka neʻe.

ʻIke kekahi poʻe i ka hopena ʻē aʻe (paradoxical myotonia) a lilo i mea ʻino me ka neʻe. Hiki ke hoʻomaikaʻi i ko lākou mau hōʻailona ma hope o ke ola.

Komo pū nā pilikia:

• Hoʻokumu ʻia ka pulumonia hanu e ka moni ʻana i nā pilikia
• Pākuʻi pinepine ʻia, gagging ʻana, a i ʻole pilikia i ke ale ʻana i kahi pēpē
• Nā pilikia hui lōʻihi (mau)
• Nāwaliwali o nā mākala ʻōpū

Kāhea i kāu mea hāʻawi inā loaʻa kāu keiki i nā ʻōuli o ka myotonia congenita.

ʻO nā kāne e makemake ana e loaʻa nā keiki a me ka moʻolelo o ko lākou ʻohana myotonia congenita pono e noʻonoʻo i nā ʻōlelo aʻo kūpuna.

Maʻi ʻo Thomsen; Maʻi ʻo Becker

• Nā mākala mua ma mua
• Nā mākala mua hohonu
• Tendons a me nā mākala
• Nā mākala wāwae lalo

ʻO Bharucha-Goebel DX. Nā maʻi maʻi muscular. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 627.

Kerchner GA, Ptácek LJ. Channelopathies: nā maʻi episodic a me nā uila o ka ʻōnaehana hopohopo. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 99.

Selcen D. Nā maʻi maʻi. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 393.