I-Myotonia congenita

I-Myotonia congenita yisimo esizuzwe njengefa esithinta ukuphumula kwemisipha. Kuyinto yokuzalwa, okusho ukuthi ikhona kusukela ekuzalweni. Kwenzeka kaningi enyakatho yeScandinavia.

I-Myotonia congenita ibangelwa ukuguqulwa kofuzo (ukuguquka). Idluliselwa komunye noma bobabili abazali iye ezinganeni zabo (ezuzwe njengefa).

I-Myotonia congenita ibangelwa inkinga engxenyeni yamaseli emisipha adingekayo ukuze imisipha ikhululeke. Izimpawu zikagesi eziphindaphindwayo ezingajwayelekile zenzeka emisipheni, zibangele ukuqina okubizwa nge-myotonia.

Uphawu lwalesi simo yi-myotonia. Lokhu kusho ukuthi imisipha ayikwazi ukuphumula ngokushesha ngemuva kokuthola inkontileka. Isibonelo, ngemuva kokuxhawulwa, umuntu uvuleka kancane kancane futhi asuse isandla sakhe.

Izimpawu zokuqala zingafaka:

• Kunzima ukugwinya
• Ukuvala umlomo
• Ukunyakaza okuqinile okuthuthukayo lapho kuphindwa
• Ukuphefumula noma ukuqina kwesifuba ekuqaleni kokuvivinya umzimba
• Ukuwa njalo
• Kunzima ukuvula amehlo ngemuva kokuphoqa ukuthi avale noma akhale

Izingane ezine-myotonia congenita zivame ukubukeka zinemisipha futhi zikhule kahle. Bangase bangabi nezimpawu ze-myotonia congenita kuze kube yiminyaka engu-2 noma engu-3.

Umhlinzeki wezokunakekelwa kwempilo angabuza ukuthi kukhona yini umlando womndeni we-myotonia congenita.

Izivivinyo zifaka:

• I-Electromyography (EMG, ukuhlolwa komsebenzi kagesi wemisipha)
• Ukuhlolwa kofuzo
• Imisipha biopsy

I-Mexiletine ngumuthi owelapha izimpawu ze-myotonia congenita. Ezinye izindlela zokwelapha zifaka:

• Phenytoin
• I-Procainamide
• I-Quinine (engasetshenziswa kakhulu manje, ngenxa yemiphumela emibi)
• I-Tocainide
• ICarbamazepine

Amaqembu Okusekela

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-myotonia congenita:

• Inhlangano YeMuscular Dystrophy - www.mda.org/disease/myotonia-congenita
• Inkomba yasekhaya ye-NIH Genetics - ghr.nlm.nih.gov/condition/myotonia-congenita

Abantu abanalesi simo bangenza kahle. Izimpawu zenzeka kuphela lapho ukunyakaza kuqala. Ngemuva kokuphindaphinda okumbalwa, imisipha iyakhululeka futhi ukunyakaza kuba okujwayelekile.

Abanye abantu babhekana nomphumela ophambene (i-myotonia eyindida) futhi baya ngokuya ngokuhamba. Izimpawu zabo zingathuthuka kamuva empilweni.

Izinkinga zingafaka:

• Ukuphefumula i-pneumonia okubangelwa ubunzima bokugwinya
• Ukuklinywa njalo, ukuqunjelwa, noma inkinga yokugwinya enganeni
• Izinkinga ezihlangene zesikhathi eside (ezingapheli)
• Ubuthakathaka bemisipha yesisu

Shayela umhlinzeki wakho uma ingane yakho inezimpawu ze-myotonia congenita.

Imibhangqwana efuna ukuba nezingane futhi enomlando womndeni we-myotonia congenita kufanele icabangele ukwelulekwa ngezofuzo.

Isifo sikaThomsen; Isifo sika-Becker

• Imisipha yangaphandle engaphezulu
• Imisipha yangaphakathi ejulile
• Ama-tendon nemisipha
• Imisipha yomlenze engezansi

I-Bharucha-Goebel DX. Ama-dystrophies emisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

UKerchner GA, uPtácek LJ. I-Channelopathies: iziyaluyalu ze-episodic nezikagesi zesistimu yezinzwa. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 99.

Selcen D. Izifo zemisipha. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 393.