Myotonia congenita

Myotonia congenita chinhu chakagarwa nhaka chinokanganisa kutandara kwemhasuru. Iyo inoberekwa, zvichireva kuti iripo kubva pakuzvarwa. Inoitika kakawanda kuchamhembe kweScandinavia.

Myotonia congenita inokonzerwa nekuchinja kwemajini (mutation). Inoendeswa kubva kune mumwe kana vabereki vaviri kuenda kuvana vavo (vakagara nhaka).

Myotonia congenita inokonzerwa nedambudziko muchikamu chemaseru maseru ayo anodiwa kuti mhasuru dzikame. Zviratidzo zvisina kujairika zvemagetsi zvinoitika mumhasuru, zvichikonzera kuomarara kunonzi myotonia.

Chiratidzo cheichi chiitiko ndeye myotonia. Izvi zvinoreva kuti mhasuru hadzikwanise kukurumidza kuzorora mushure mekubatana. Semuenzaniso, mushure mekubatwa ruoko, munhu wacho anongogona zvishoma nezvishoma kuvhura uye kubvisa ruoko rwake.

Zviratidzo zvekutanga zvinogona kusanganisira:

• Zvakaoma kumedza
• Kubata muromo
• Mafambiro akaomarara anovandudza kana achidzokororwa
• Kufema kwekufema kana kusimbisa chipfuva pakutanga kwekurovedza muviri
• Kakawanda kuwira
• Zvakaoma kuvhura maziso mushure mekumanikidza akavhara kana kuchema

Vana vane myotonia congenita vanowanzo tarisa mhasuru uye vakagwinya. Vanogona kunge vasina zviratidzo zve myotonia congenita kusvika makore maviri kana matatu.

Anopa hutano anogona kubvunza kana paine nhoroondo yemhuri ye myotonia congenita.

Miedzo inosanganisira:

• Electromyography (EMG, bvunzo yemagetsi mashandiro emhasuru)
• Kuongorora genetic
• Tsvina biopsy

Mexiletine mushonga unobata zviratidzo zvemyotonia congenita. Mimwe mishonga inosanganisira:

• Phenytoin
• Procainamide
• Quinine (kashoma kushandiswa ikozvino, nekuda kwemhedzisiro)
• Tocainide
• Carbamazepine

Tsigira Mapoka

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve myotonia congenita:

• Muscular Dystrophy Association - www.mda.org/disease/myotonia-congenita
• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/myotonia-congenita

Vanhu vane chirwere ichi vanogona kuita zvakanaka. Zviratidzo zvinongoitika kana kufamba kwatanga. Mushure mekudzokorora kushoma, mhasuru inozorora uye kufamba kwacho kunoitika.

Vamwe vanhu vanoona zvinopesana nepo (paradoxical myotonia) uye vanowedzera kuwedzera nekufamba. Zviratidzo zvavo zvinogona kuvandudzika gare gare muhupenyu.

Zvinetso zvinogona kusanganisira:

• Aspiration pneumonia inokonzerwa nekumedza matambudziko
• Kugara uchidzipwa, kusungwa, kana kunetseka kumedza mucheche
• Yenguva refu (isingaperi) matambudziko akabatana
• Kushaya simba kwetsandanyama dzemudumbu

Fonera waunopa kana mwana wako aine zviratidzo zvemyotonia congenita.

Vakaroorana vanoda kuve nevana uye vane nhoroondo yemhuri ye myotonia congenita vanofanirwa kufunga nezvekupiwa mazano.

Chirwere cheThomsen; Chirwere cheBecker

• Mashura epamberi epamusoro
• Yakadzika anterior mhasuru
• Tendon uye mhasuru
• Makumbo emakumbo epasi

Bharucha-Goebel DX. Tsandanyama dystrophies. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsamba 627.

Kerchner GA, Ptácek LJ. Channelopathies: episodic uye magetsi kusagadzikana kweiyo nervous system. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits. 99.

Selcen D. Zvirwere zvetsandanyama. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 26th ed. Philadelphia, PA: Elsevier; 2020: chitsiko 393.