Myotonia congenita

Myotonia congenita ndi mkhalidwe wobadwa nawo womwe umakhudza kupumula kwa minofu. Ndimabadwa, kutanthauza kuti amapezeka kuyambira pomwe adabadwa. Amapezeka kawirikawiri kumpoto kwa Scandinavia.

Myotonia congenita imayambitsidwa ndi kusintha kwa majini (kusintha). Imaperekedwa kuchokera kwa kholo limodzi kapena onse awiri kupita kwa ana awo (obadwa nawo).

Myotonia congenita imayambitsidwa ndi vuto m'magawo am'manja omwe amafunikira kuti minofu ipumule. Zizindikiro zamagetsi zobwerezabwereza zimachitika mu minofu, ndikupangitsa kuuma kotchedwa myotonia.

Chizindikiro cha vutoli ndi myotonia. Izi zikutanthauza kuti minofu imatha kupuma msanga mutatha kutenga mgwirizano. Mwachitsanzo, atagwirana chanza, munthuyo amangotsegula pang'onopang'ono ndikukoka dzanja lawo.

Zizindikiro zoyambirira zimatha kuphatikiza:

• Zovuta kumeza
• Kudzudzula
• Kusuntha kolimba komwe kumawongolera akabwereza
• Kupuma pang'ono kapena kukhwimitsa pachifuwa kumayambiriro kwa masewera olimbitsa thupi
• Kugwa pafupipafupi
• Kuvuta kutsegula maso mutawakakamiza kuti atseke kapena kulira

Ana omwe ali ndi myotonia congenita nthawi zambiri amawoneka olimba komanso otukuka. Mwina sangakhale ndi zizindikilo za myotonia congenita mpaka zaka 2 kapena 3.

Wothandizira zaumoyo atha kufunsa ngati pali mbiri yabanja ya myotonia congenita.

Mayeso ndi awa:

• Electromyography (EMG, kuyesa kwa zamagetsi zaminyewa)
• Kuyesedwa kwachibadwa
• Kutulutsa minofu

Mexiletine ndi mankhwala omwe amachiza zizindikiro za myotonia congenita. Mankhwala ena ndi awa:

• Phenytoin
• Procainamide
• Quinine (sagwiritsidwa ntchito kawirikawiri pano, chifukwa cha zoyipa)
• Tocainide
• Carbamazepine

Magulu Othandizira

Zotsatirazi zitha kupereka zambiri pa myotonia congenita:

• Msonkhano wa Muscular Dystrophy - www.mda.org/disease/myotonia-congenita
• Buku Lofotokozera la NIH Genetics - ghr.nlm.nih.gov/condition/myotonia-congenita

Anthu omwe ali ndi vutoli amatha kuchita bwino. Zizindikiro zimachitika kokha kayendedwe kayamba. Pambuyo pobwereza kangapo, minofu imatsitsimuka ndipo mayendedwe amakhala abwinobwino.

Anthu ena amakumana ndi zovuta zina (parotoksiki ya myotonia) ndikuwonjezeka poyenda. Zizindikiro zawo zimatha kusintha mtsogolo m'moyo.

Zovuta zingaphatikizepo:

• Chibayo chotupa chibayo chimayamba chifukwa chameza zovuta
• Kutsekeka pafupipafupi, kukukuta mano, kapena vuto kumeza khanda
• Mavuto a nthawi yayitali (osatha) olumikizana
• Kufooka kwa minofu yam'mimba

Itanani omwe akukuthandizani ngati mwana wanu ali ndi zizindikiro za myotonia congenita.

Mabanja omwe akufuna kukhala ndi ana komanso omwe ali ndi mbiri ya banja la myotonia congenita ayenera kulingalira za upangiri wa chibadwa.

Matenda a Thomsen; Matenda a Becker

• Minofu yakunja yakunja
• Minofu yakuya yakunja
• Tendon ndi minofu
• Minofu ya m'munsi

Bharucha-Goebel DX. Matenda am'mimba. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: mutu 627.

Kerchner GA, Ptácek LJ. Channelopathies: zovuta zamagetsi zamagetsi zamanjenje ndi zamagetsi zamanjenje. Mu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, olemba. Neurology ya Bradley mu Kuchita Zachipatala. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2016: chap 99.

Selcen D. Matenda a minofu. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier; 2020: mutu 393.