Myotonia congenita

Myotonia congenita bụ ọnọdụ e ketara eketa nke na-emetụta izu ike anụ ahụ. O bu congenital, nke putara na o di site na nmumu. Ọ na-apụta ugboro ugboro na mgbago ugwu Scandinavia.

Myotonia congenita kpatara mgbanwe mgbanwe mkpụrụ ndụ (mutation). A na - enyefe ya site na otu nne ma ọ bụ nne na nna nye ụmụ ha (ketara).

Ihe na-akpata Myotonia congenita bụ nsogbu dị na akụkụ nke mkpụrụ ndụ akwara nke dị mkpa maka akwara iji zuru ike. Ihe mgbaàmà eletriki na-adịghị ahụkebe na-erukwa na akwara, na-akpata nkwesi ike a na-akpọ myotonia.

Ihe e ji mara ọnọdụ a bụ myotonia. Nke a pụtara na akwara enweghị ike izu ike ngwa ngwa mgbe emechara ọrụ. Iji maa atụ, mgbe mmadụ kesichara okwukwe mmadụ n'aka, onye ahụ ga-eji nwayọ nwayọ imeghe ma dọpụ aka ya.

Mgbaàmà mbụ nwere ike ịgụnye:

• Nsogbu ilo
• Ijide
• Mgbatị siri ike nke na-emeziwanye mgbe a na-emeghachi ya
• Iku ume iku ume ma ọ bụ ikedo ume n’obi na mbido mmega ahụ
• Ugboro dara
• Ihe isi ike imeghe anya mgbe ịmanye ha mechiri ma ọ bụ na-ebe ákwá

Withmụaka ndị nwere myotonia congenita na-adịkarị ahụ ike na nke ọma. Ha nwere ike ọ gaghị enwe mgbaàmà nke myotonia congenita rue afọ 2 ma ọ bụ 3.

Onye nlekọta ahụike nwere ike ịjụ ma ọ bụrụ na enwere akụkọ gbasara ezinụlọ nke myotonia congenita.

Ule gụnyere:

• Electromyography (EMG, ule nke ọrụ eletriki nke uru)
• Nnwale mkpụrụ ndụ ihe nketa
• Nnukwu biopsy

Mexiletine bụ ọgwụ na-agwọ mgbaàmà nke myotonia congenita. Usoro ọgwụgwọ ndị ọzọ gụnyere:

• Okoli
• Procainamide
• Quinine (adịkarịghị eji ya ugbu a, n'ihi mmetụta ndị dị na ya)
• Tocainide
• Carbamazepine

Otu Nkwado

Ihe ndi a nwere ike inye ndi ozo banyere myotonia congenita:

• Culartù Musical Dystrophy Association - www.mda.org/disease/myotonia-congenita
• NIH Genetics Home Reference - ghr.nlm.nih.gov/condition/myotonia-congenita

Ndị ọrịa a nwere ike ịka mma. Mgbaàmà na-eme mgbe ebidoro imegharị. Mgbe emechara ole na ole, akwara ahụ ga-agbada, mmegharị ahụ ga-adịkwa mma.

Peoplefọdụ ndị mmadụ na - ahụ mmetụta dị iche (myotonia) na-akawanye njọ na mmegharị. Mgbaàmà ha nwere ike ịka mma mgbe oge na-aga.

Nsogbu nwere ike ịgụnye:

• Ọchịchọ oyi baa ka ilo ihe isi ike
• Ikuku, imegharị, ma ọ bụ nsogbu na-elokarị nwa ọhụrụ
• Ogologo oge (nsogbu) na nkwonkwo nsogbu
• Adịghị ike nke akwara afọ

Kpọọ onye na-enye gị ọrụ ma ọ bụrụ na nwa gị nwere mgbaàmà nke myotonia congenita.

Di na nwunye chọrọ ịmụ ụmụ na ndị nwere ezinụlọ myotonia congenita kwesịrị ịtụle ndụmọdụ gbasara mkpụrụ ndụ ihe nketa.

Ọrịa Thomsen; Ọrịa Becker

• Elu ihu akwara
• Mkpụrụ akwara dị omimi
• Tendons na akwara
• Ala akwara ụkwụ

Bharucha-Goebel DX. Ọkpụkpụ dystrophies. Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi 627.

Kerchner GA, Ptácek LJ. Channelopathies: nsogbu episodic na eletriki nke usoro ụjọ. Na: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Ọkpụkpụ Bradley na Clinical Practice. Nke 7. Philadelphia, PA: Elsevier; 2016: isi 99.

Selcen D. Ọrịa akwara. Na: Goldman L, Schafer AI, eds. Ọgwụ Goldman-Cecil. Nke 26th. Philadelphia, PA: Elsevier; 2020: isi 393.