Myotonia congenita

Myotonia congenita ke boemo bo futsitsoeng bo amang phomolo ea mesifa. Ke tlhaho, ho bolelang hore e teng ho tloha tsoalong. E hlaha khafetsa haholo leboea la Scandinavia.

Myotonia congenita e bakoa ke phetoho ea liphatsa tsa lefutso (phetoho). E fetisetsoa ho motsoali a le mong kapa ka bobeli ho bana ba bona (ba futsitsoeng).

Myotonia congenita e bakoa ke bothata karolong ea lisele tsa mesifa tse hlokahalang hore mesifa e phomole. Matšoao a sa tloaelehang a motlakase a hlaha ka har'a mesifa, a baka ho satalla ho bitsoang myotonia.

Letšoao le tsebahalang la boemo bona ke myotonia. Sena se bolela hore mesifa ha e khone ho phomola kapele kamora ho sebetsa. Mohlala, kamora ho ts'oarana ka matsoho, motho o khona ho bula le ho hula letsoho butle butle.

Matšoao a pele a ka kenyelletsa:

• Ho thata ho koenya
• Ho tsitsinyeha
• Mehato e thata e ntlafalang ha e phetoa
• Phefumoloho e khutšoanyane kapa ho tiisa sefuba qalong ea boikoetliso
• Ho oa khafetsa
• Ho thata ho bula mahlo kamora ho ba qobella ho koala kapa ho lla

Bana ba nang le myotonia congenita hangata ba shebahala ba le mesifa ebile ba holile hantle. Ba kanna ba se na matšoao a myotonia congenita ho fihlela lilemo tse 2 kapa tse 3.

Mofani oa tlhokomelo ea bophelo a ka botsa hore na ho na le nalane ea lelapa ea myotonia congenita.

Liteko li kenyelletsa:

• Electromyography (EMG, teko ea ts'ebetso ea motlakase ea mesifa)
• Ho etsa liteko tsa lefutso
• Biopsy ea mesifa

Mexiletine ke moriana o phekolang matšoao a myotonia congenita. Mefuta e meng ea kalafo e kenyelletsa:

• Phenytoin
• Procainamide
• Quinine (ha e sebelisoe hangata, ka lebaka la litla-morao)
• Tocainide
• Carbamazepine

Lihlopha tsa Tšehetso

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka myotonia congenita:

• Mokhatlo oa Muscular Dystrophy - www.mda.org/disease/myotonia-congenita
• Referense ea Lehae la NIH Genetics - ghr.nlm.nih.gov/condition/myotonia-congenita

Batho ba nang le boemo bona ba ka sebetsa hantle. Matšoao a etsahala feela ha motsamao o qala. Kamora ho pheta-pheta makhetlo a 'maloa, mesifa ea phomola' me motsamao o ba o tloaelehileng.

Batho ba bang ba ba le litlamorao tse fapaneng (myotonia e makatsang) mme ba mpefala le ho tsamaea. Matšoao a bona a ka ntlafala hamorao bophelong.

Mathata a ka kenyelletsa:

• Pneumonia ea moea e bakoang ke mathata a ho koenya
• Ho khama khafetsa, ho qhekella kapa bothata ba ho koenya lesea
• Mathata a kopaneng a nako e telele (a sa foleng)
• Bofokoli ba mesifa ea mpa

Bitsa mofani oa hau haeba ngoana oa hau a e-na le matšoao a myotonia congenita.

Banyalani ba batlang ho ba le bana le ba nang le nalane ea lelapa ea myotonia congenita ba lokela ho nahana ka tlhabollo ea lefutso.

Lefu la Thomsen; Lefu la Becker

• Mesifa ea ka ntle e kantle
• Mesifa e tebileng ea ka pele
• Ditendon le mesifa
• Mesifa ea maoto a ka tlase

Bharucha-Goebel DX. Li-dystrophies tsa mesifa. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 627.

Kerchner GA, Ptácek LJ (Phetolelo ea LJ). Channelopathies: mathata a episodic le motlakase tsamaisong ea methapo. Ka: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, bahlophisi. Neurology ea Bradley ho Tloaelo ea Bongaka. La 7th. Philadelphia, PA: Elsevier; 2016: khaolo ea 99.

Selcen D. Maloetse a mesifa. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 26th. Philadelphia, PA: Elsevier; 2020: khaolo ea 393.