Myotonia congenita

Myotonia congenita waa xaalad la iska dhaxlo oo saameysa nasashada murqaha. Waa mid lagu dhasho, oo macnaheedu yahay inay jirto dhalashada. Waxay badanaa ku dhacdaa woqooyiga Scandinavia.

Myotonia congenita waxaa sababa isbeddel hidde ah (mutation). Waxaa looga gudbaa midkood ama labada waalidba ubadkooda (dhaxal).

Myotonia congenita waxaa sababa dhibaato qayb ka mid ah unugyada muruqyada oo looga baahan yahay muruqyada inay ku nastaan. Calaamado koronto oo aan caadi ahayn oo soo noqnoqda ayaa ku dhaca muruqyada, taasoo keenta adkaansho loo yaqaan 'myotonia'.

Astaamaha lagu garto xaaladdan waa myotonia. Tani waxay ka dhigan tahay in muruqyadu aysan awood u lahayn inay si dhakhso leh u nastaan ​​ka dib qandaraaska Tusaale ahaan, isgacan qaad ka dib, qofku wuxuu si tartiib tartiib ah u awoodaa inuu furo oo uu jiido gacantiisa.

Calaamadaha hore waxaa ka mid noqon kara:

• Dhibaato liqitaan
• Kacsiga
• Dhaqdhaqaaqa adag ee hagaajiya marka lagu celiyo
• Neefsasho gaabis ah ama xabadka oo adkaada bilowga jimicsiga
• Soo noqnoqda
• Dhibaato xagga indhaha furitaanka ka dib markii lagu qasbo inay xirmaan ama ooyaan

Carruurta qaba myotonia congenita inta badan waxay umuuqdaan muruqyo iyo horumar wanaagsan. Waxaa laga yaabaa inaysan qabin astaamo myotonia congenita ilaa da'da 2 ama 3.

Bixiyaha xanaanada caafimaadka ayaa laga yaabaa inuu weeydiiyo inuu jiro taariikh qoys ee myotonia congenita.

Tijaabooyinka waxaa ka mid ah:

• Electromyography (EMG, tijaabada waxqabadka korantada ee muruqyada)
• Tijaabada hidaha
• Cad ka-qaadista murqaha

Mexiletine waa daawo lagu daaweeyo astaamaha myotonia congenita. Daaweynta kale waxaa ka mid ah:

• Phenytoin
• Procainamide
• Quinine (dhif ayaa hadda loo isticmaalaa, saameynaha awgood)
• Tocainide
• Carbamazepine

Kooxaha Taageerada

Kheyraadka soo socda ayaa ku siin kara macluumaad dheeri ah myotonia congenita:

• Ururka Murqaha Musqulaha - www.mda.org/disease/myotonia-congenita
• NIH Genetics Tixraaca Guriga - ghr.nlm.nih.gov/condition/myotonia-congenita

Dadka xaaladan caafimaad qaba si fiican ayey wax u qaban karaan. Calaamaduhu waxay dhacaan oo keliya marka dhaqdhaqaaq la bilaabo markii ugu horreysay. Waxoogaa ku celcelis ah ka dib, muruqa wuu dabcaa oo dhaq-dhaqaaqa ayaa caadi noqda.

Dadka qaarkiis waxay la kulmaan saameynta ka soo horjeedda (myotonia ka soo horjeedda) oo ay uga sii darto dhaqdhaqaaqa. Astaamahoodu way sii fiicnaan karaan nolosha dambe.

Dhibaatooyinka waxaa ka mid noqon kara:

• Cudurka oof-wareenka oo ay keento dhibaatooyinka liqitaanka
• Ceejis joogto ah, dhugasho, ama dhibaato liqitaan ilmo yar
• Dhibaatooyinka wadajirka ah ee muddada-dheer (daba-dheer)
• Tabar darrida murqaha caloosha

Wac dhakhtarkaaga haddii ilmahaagu qabo calaamadaha cudurka myotonia congenita.

Lammaanaha doonaya inay carruur dhalaan oo taariikh qoys ku leh myotonia congenita waa inay tixgeliyaan la-talinta hidda-sidaha.

Cudurka Thomsen; Cudurka Becker

• Muruqyada hore ee dusha sare
• Muruqyada hore ee qoto dheer
• Gawaarida iyo murqaha
• Muruqyada lugta hoose

Bharucha-Goebel DX. Dhibaatooyinka muruqyada. Gudaha: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Buugga Buugga Caafimaadka Caruurta. 21aad ed. Philadelphia, PA: Elsevier; 2020: baab 627.

Kerchner GA, Ptácek LJ. Channelopathies: cilladaha episodic iyo korantada ee nidaamka neerfaha. Gudaha: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology ee Tababbarka Caafimaadka. 7aad ed. Philadelphia, PA: Elsevier; 2016: cutubka 99.

Selcen D. Cudurada muruqyada. Gudaha: Goldman L, Schafer AI, eds. Daawada Goldman-Cecil. 26aad. Philadelphia, PA: Elsevier; 2020: baab 393.