Limb-bhandi muscular dystrophies

Limb-girandi muscular dystrophies inosanganisira angangoita gumi nemasere ezvirwere zvakagarwa nhaka. (Kune gumi nematanhatu anozivikanwa majini.) Matambudziko aya anotanga kukanganisa mhasuru dzakatenderedza bhandi repafudzi nehudyu. Zvirwere izvi zvinotowedzera. Pakupedzisira, zvinogona kusanganisira mamwe mhasuru.

Limb-girdle muscular dystrophies iboka rakakura rezvirwere zvemagene umo mune mhasuru kushaya simba uye kuparara (muscular dystrophy).

Muzviitiko zvakawanda, vese vabereki vanofanirwa kupfuudza iyo isinga shande (isina kukwana) geni kuti mwana ave nechirwere (autosomal recessive nhaka). Mune mamwe marudzi asingawanzo, mubereki mumwe chete ndiye anoda kupfuudza iyo isiri kushanda geni kukanganisa mwana. Izvi zvinodaidzwa kuti autosomal yakanyanya nhaka. Kune gumi nematanhatu eaya mamiriro, iro rakaremara jeni rakawanikwa. Kune vamwe, iyo geni haisati yazivikanwa.

Chinhu chakakosha chengozi kuve nenhengo yemhuri ine muscular dystrophy.

Kazhinji kazhinji, chiratidzo chekutanga kushaya simba kwepamuviri. Mienzaniso yeiyi inosanganisira kunetseka kumira kubva pakagara nzvimbo usingashandise maoko, kana kunetseka kukwira masitepisi. Hutera hunotanga muhudiki kusvika kune munhu mukuru kukura.

Zvimwe zviratidzo zvinosanganisira:

• Asina kujairika, dzimwe nguva kufambisa, kufamba
• Majoini akagadzwa munzvimbo yechibvumirano (kunonoka muchirwere)
• Mhuru dzakakura uye dzinotarisika mhasuru (pseudohypertrophy), idzo dzisina kunyatsosimba
• Kurasikirwa kwemhasuru, kuponda kwemamwe mativi emuviri
• Kutambudzika kwakadzoka shure
• Palpitations kana kupasa-kunze zvitsinga
• Kushaya simba
• Kushaya simba kwemhasuru kumeso (gare gare muchirwere)
• Kushaya simba mumhasuru dzemakumbo epasi, tsoka, maoko epasi, nemaoko (gare gare muchirwere)

Miedzo inogona kusanganisira:

• Ropa creatine kinase mazinga
• Kuongororwa kweDNA (molecular genetic test)
• Echocardiogram kana ECG
• Kuongorora kweElectromyogram (EMG)
• Tsvina biopsy

Iko hakuna kurapwa kunozivikanwa kunochinja kushaya simba kwemhasuru. Gene kurapa kunogona kuwanikwa mune ramangwana. Kutsigira kurapwa kunogona kudzikisira matambudziko echirwere.

Mamiriro acho anotarisirwa zvichienderana nezviratidzo zvemunhu. Inosanganisira:

• Kuongorora kwemoyo
• Zvinobatsira zvekufamba
• Kurapa kwepanyama
• Kuchengetedza kwekufema
• Kudzora huremu

Kuvhiya dzimwe nguva kunodikanwa kune chero mapfupa kana matambudziko ejoini.

Iyo Muscular Dystrophy Association chishandiso chakanakisa: www.mda.org

Pakati pese, vanhu vanowanzove noutera hunowedzera hunowedzera mukukuvara kwemhasuru uye nekupararira.

Chirwere chinokonzera kurasikirwa kwekufamba. Munhu wacho anogona kunge achivimba newiricheya mukati memakore makumi maviri kusvika makumi matatu.

Moyo wemuviri kushaya simba uye zvisina kujairika mashandiro emagetsi emoyo anogona kuwedzera njodzi yekurohwa, kufenda, uye kufa kamwe kamwe. Vazhinji vanhu vane iri boka rezvirwere vanogara mukukura, asi havasvike kune yavo yakazara tarisiro yeupenyu.

Vanhu vane nhengo-yebhanhire muscular dystrophies vanogona kusangana nezvinetso zvakadai se:

• Abnormal moyo mutinhimira
• Zvibvumirano zvezvibatanidzwa
• Dambudziko nemabasa ehupenyu hwezuva nezuva nekuda kwekushaya simba kwepafudzi
• Kufambira mberi kushaya simba, izvo zvinogona kutungamira mukuda wiricheya

Fonera wako mupi wezvehutano kana iwe kana mwana wako uchinzwa kushaya simba uchisimuka kubva pakukwikwidza. Shevedza geneticist kana iwe kana nhengo yemhuri yaonekwa uine muscular dystrophy, uye urikuronga kubata nhumbu.

Genetic counselling ikozvino yapihwa kune vanhu vane dambudziko nemhuri dzavo. Munguva pfupi inotevera mamorekuru kuyedzwa kunosanganisira yakazara genome kuteedzana kune varwere uye hama dzavo kuti zvirinani kumisikidza kuongororwa. Kurairidzwa kwemajini kunogona kubatsira vamwe vakaroorana uye mhuri kudzidza nezve njodzi uye kubatsira pakuronga mhuri. Iyo zvakare inobvumidza kubatanidza varwere nezvirwere zvinyorwa uye nemasangano evarwere.

Zvimwe zvezvinetso zvinogona kudzivirirwa nemabatiro akakodzera. Semuenzaniso, yemoyo pacemaker kana defibrillator inogona kudzora zvakanyanya njodzi yekufa kamwe kamwe nekuda kweasina kujairika moyo mutinhimira. Kurapa kwemuviri kunogona kukwanisa kudzivirira kana kunonoka zvibvumirano uye kugadzirisa hupenyu.

Vanhu vane dambudziko vangangoda kuita DNA banking. Kuongororwa kweDNA kunokurudzirwa kune avo vanobatwa. Izvi zvinobatsira kuona yemhuri geni shanduko. Kana kuchinjika kwawanikwa, kuongororwa kweDNA yepamuviri, kuyedzwa kwevatakuri, uye pre-kudyara genetisheni kuongororwa kunogoneka.

Muscular dystrophy - limb-girdle mhando (LGMD)

• Mashura epamberi epamusoro

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.

Finkel RS, Mohassel P, Bonnemann CG. Kuberekwa, bhanhire remakumbo uye mamwe muscular dystrophies. Mune: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Elsevier; 2017: chits. 147.

Mohassel P, Bonnemann CG. Limb-bhandi muscular dystrophies. Mune: Darras BT, Jones HR, Ryan MM, DeVivo DC, eds. Neuromuscular Dambudziko Rehucheche, Udiki, Uye Kuyaruka. 2nd ed. Waltham, MA: Elsevier Dzidzo Press; 2015: chits. 34.