UMyotonia congenita

I-Myotonia congenita yimeko yelifa echaphazela ukuphumla kwemisipha. Kukuzalwa, okuthetha ukuba ikho kwasekuzalweni. Kwenzeka rhoqo kumantla eScandinavia.

I-Myotonia congenita ibangelwa kukutshintsha kwemfuza (ukuguquka). Iyadluliselwa isuka komnye okanye kubazali bobabini iye kubantwana bayo (njengelifa).

I-Myotonia congenita ibangelwa yingxaki kwinxalenye yeeseli zemisipha ezifunekayo ukuze izihlunu ziphumle. Iimpawu zombane ezingaqhelekanga eziphindaphindiweyo zenzeka kwimisipha, zibangele ukuqina okubizwa ngokuba yi-myotonia.

Uphawu olubalulekileyo lwale meko yi-myotonia. Oku kuthetha ukuba izihlunu azikwazi ukukhululeka ngokukhawuleza emva kokungena kwisivumelwano. Umzekelo, emva kokubanjwa ngesandla, umntu ucotha kancinci kancinci ukuba avule kwaye asuse isandla sakhe.

Iimpawu zokuqala zinokubandakanya:

• Kunzima ukugwinya
• Ukuhlikihla
• Ukuhamba okungqongqo okuphucula xa kuphindwa
• Ukuphefumla kancinci okanye ukuqinisa isifuba ekuqaleni kokuzilolonga
• Ukuwa rhoqo
• Kunzima ukuvula amehlo emva kokubanyanzela ukuba bavale okanye balile

Abantwana abane-myotonia congenita bahlala bejongeka ngathi banemisipha kwaye bakhule kakuhle. Akunakho ukuba neempawu ze-myotonia congenita kude kube neminyaka emi-2 okanye emithathu.

Umboneleli wezempilo angabuza ukuba kukho imbali yosapho ye-myotonia congenita.

Uvavanyo lubandakanya:

• I-Electromyography (EMG, kuvavanyo lomsebenzi wombane wezihlunu)
• Uvavanyo lwemfuzo
• Imisipha biopsy

I-Mexiletine liyeza elinyanga iimpawu ze-myotonia congenita. Olunye unyango lubandakanya:

• IPhenytoin
• IProcainamide
• Iquinine (kunqabile ukuba isetyenziswe ngoku, ngenxa yeziphumo ebezingalindelekanga)
• ITocainide
• ICarbamazepine

Amaqela enkxaso

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-myotonia congenita:

• Umbutho weMuscular Dystrophy- www.mda.org/disease/myotonia-congenita
• Isalathiso seKhaya le-NIH yemfuzo- ghr.nlm.nih.gov/condition/myotonia-congenita

Abantu abakule meko banokwenza kakuhle. Iimpawu zenzeka kuphela xa intshukumo iqala. Emva kokuphindaphinda okumbalwa, isihlunu siyayekelela kwaye intshukumo iba yinto eqhelekileyo.

Abanye abantu bafumana umphumo ochaseneyo (i-myotonia ephikisanayo) kwaye baya kuba nzima ngokuhamba. Iimpawu zabo zinokuphucula kamva ebomini.

Iingxaki zinokubandakanya:

• I-pneumonia yokuphefumla ebangelwa bubunzima bokuginya
• Ukurhaxwa rhoqo, ukugxothwa, okanye ingxaki yokuginya usana
• Ixesha elide (elingapheliyo) iingxaki ezidibeneyo
• Ubuthathaka bemisipha yesisu

Biza umboneleli wakho ukuba umntwana wakho uneempawu ze-myotonia congenita.

Amaqabane afuna ukuba nabantwana kwaye anembali yosapho ye-myotonia congenita kufuneka aqwalasele iingcebiso ngemfuzo.

Isifo sikaThomsen; Isifo sikaBecker

• Imisipha yangaphandle yangaphandle
• Izihlunu zangaphakathi ezinzulu
• Iitendon kunye nezihlunu
• Imisipha yomlenze osezantsi

Bharucha-Goebel DX. Izihlunu zemisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

IKerchner GA, iPtácek LJ. I-Channelopathies: i-episodic kunye nokuphazamiseka kombane kwenkqubo ye-neva. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 99.

USelcen D. Izifo zemisipha. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 393.