Myotonia congenita

Myotonia congenita yanayin gado ne wanda ke shafar shakatawa na tsoka. Na al'ada ne, ma'ana yana nan tun daga haihuwa. Yana faruwa sau da yawa a arewacin Scandinavia.

Myotonia congenita yana haifar da canjin kwayar halitta (maye gurbi). Ana yada shi ne daga ɗayan ko iyayen biyu zuwa ga childrena (ansu (sun gaji).

Myotonia congenita yana haifar da matsala a ɓangaren ɓangarorin ƙwayoyin tsoka waɗanda ake buƙata don tsokoki su shakata. M alamomin lantarki da yawa ba suna faruwa a cikin tsokoki, suna haifar da tauri da ake kira myotonia.

Alamar wannan yanayin shine myotonia. Wannan yana nufin cewa tsokoki ba sa iya yin sauri su huta bayan kwangila. Misali, bayan musafiha, mutum a hankali kawai yake iya budewa da jan hannunsu.

Alamun farko na iya haɗawa da:

• Matsalar haɗiyewa
• Yin gwatso
• Movementsungiyoyin motsa jiki waɗanda ke inganta idan an maimaita su
• Arancin numfashi ko matse kirji a farkon fara motsa jiki
• Yawan faduwa
• Matsalar buɗe idanu bayan tilasta su a rufe ko kuka

Yaran da ke da matsalar mayotonia sau da yawa suna kama da murdede da ci gaba sosai. Wataƙila ba su da alamun cututtukan ƙwayoyin cuta har zuwa shekara 2 ko 3.

Mai ba da sabis na kiwon lafiya na iya tambaya ko akwai tarihin iyali na myotonia congenita.

Gwajin sun hada da:

• Electromyography (EMG, gwajin aikin lantarki na tsokoki)
• Gwajin kwayoyin halitta
• Gwajin tsoka

Mexiletine magani ce da ke kula da alamun cututtukan ƙwaƙwalwar ƙwaƙwalwa. Sauran jiyya sun hada da:

• Phenytoin
• Procainamide
• Quinine (ba safai ake amfani da shi ba yanzu, saboda illolin)
• Tocainide
• Carbamazepine

Groupungiyoyin Tallafi

Abubuwan masu zuwa na iya ba da ƙarin bayani game da myotonia congenita:

• Ystungiyar ystungiyar ystwayar Muscular - www.mda.org/disease/myotonia-congenita
• NIH Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/myotonia-congenita

Mutanen da ke da wannan yanayin na iya yin kyau. Kwayar cutar tana faruwa ne kawai lokacin da aka fara motsi. Bayan fewan maimaitawa, tsoka ta saki jiki kuma motsi ya zama na al'ada.

Wasu mutane suna fuskantar kishiyar tasiri (myotonia mai rikitarwa) kuma suna ƙara muni da motsi. Alamunsu na iya inganta daga baya a rayuwa.

Matsaloli na iya haɗawa da:

• Ciwon huhu na huhu wanda wahala ta haɗiye ta haifar
• Shaƙatawa akai akai, gagging, ko matsala haɗiye cikin jariri
• Matsalar haɗin gwiwa na dogon lokaci (na yau da kullun)
• Raunin jijiyoyin ciki

Kirawo mai ba da sabis idan yaronku na da alamun rashin lafiyar myotonia congenita.

Ma'auratan da ke son haihuwar yara kuma waɗanda ke da tarihin iyali na myotonia congenita ya kamata su yi la’akari da shawarwarin kwayoyin halitta.

Cutar Thomsen; Ciwon Becker

• Musclesananan tsokoki na baya
• Musclesananan tsokoki na gaba
• Tendons da tsokoki
• Musclesananan tsokoki na kafa

Bharucha-Goebel DX. Musical dystrophies. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 627.

Kerchner GA, Ptácek LJ. Channelopathies: rikice-rikice da rikicewar lantarki na tsarin juyayi. A cikin: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology a cikin Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016: babi na 99.

Selcen D. Cututtukan tsoka. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 26th ed. Philadelphia, PA: Elsevier; 2020: babi 393.