Limb-senyepa mesifa dystrophies

Limb-girdle muscular dystrophies e kenyelletsa bonyane mafu a fapaneng a 18 a futsitsoeng. (Ho na le mefuta e 16 e tsebahalang ea liphatsa tsa lefutso.) Mathata ana a qala ho ama mesifa e potileng leqhama le letheka. Maloetse ana a ntse a mpefala. Qetellong, e kanna ea kenyelletsa mesifa e meng.

Limb-girdle muscular dystrophies ke sehlopha se seholo sa maloetse a liphatsa tsa lefutso moo ho nang le bofokoli ba mesifa le ho senyeha (muscular dystrophy).

Maemong a mangata, batsoali ka bobeli ba tlameha ho fetisetsa liphatsa tsa lefutso tse sa sebetseng (tse sa sebetseng) hore ngoana a be le lefu lena (lefa la autosomal recessive). Mefuteng e meng e sa tloaelehang, ke motsoali a le mong feela ea hlokang ho fetisa liphatsa tsa lefutso tse sa sebetseng ho ama ngoana. Sena se bitsoa lefa le ikhethileng la autosomal. Bakeng sa maemo ana a 16, phatsa ea lefutso e senyehileng e fumanoe. Bakeng sa ba bang, lefutso ha le tsejoe.

Ntho ea bohlokoa ea kotsi ke ho ba le setho sa lelapa se nang le lefu la ho senyeha ha mesifa.

Hangata, lets'oao la pele ke bofokoli ba mesifa ea noka. Mehlala ea sena e kenyelletsa bothata ba ho ema setulong ntle le ho sebelisa matsoho, kapa bothata ba ho hloa litepisi. Bofokoli bo qala bongoaneng ho fihlela lilemong tsa bocha.

Matšoao a mang a kenyelletsa:

• Ho tsamaea ka tsela e sa tloaelehang, ka linako tse ling
• Manonyeletso a tsitsitseng maemong a konteraka (kamora lefu lena)
• Manamane a maholo le a shebahalang joaloka mesifa (pseudohypertrophy), a seng matla haholo
• Ho lahleheloa ke boima ba mesifa, likarolo tse itseng tsa 'mele
• Mahlaba a morao haholo
• Palpitations kapa boloi
• Bofokoli ba mahetla
• Bofokoli ba mesifa e sefahlehong (hamorao ho lefu lena)
• Bofokoli mesifeng ea maoto a ka tlase, maoto, matsoho a tlase le matsoho (hamorao ho lefu lena)

Liteko li ka kenyelletsa:

• Maemo a mali a creatine kinase
• Teko ea DNA (tlhahlobo ea limolek'hule tsa lefutso)
• Echocardiogram kapa ECG
• Teko ea Electromyogram (EMG)
• Biopsy ea mesifa

Ha ho na kalafo e tsejoang e khutlisetsang bofokoli ba mesifa. Phekolo ea liphatsa tsa lefutso e ka ba teng nakong e tlang. Kalafo e ts'ehetsang e ka fokotsa mathata a lefu lena.

Boemo bo laoloa ho latela matšoao a motho eo. E kenyeletsa:

• Ho hlahloba pelo
• Lithuso tsa ho tsamaea
• Phekolo ea 'mele
• Tlhokomelo ea phefumoloho
• Ho laola boima ba 'mele

Ka linako tse ling ho hlokahala opereishene bakeng sa mathata afe kapa afe a lesapo kapa manonyeletso.

Mokhatlo oa Muscular Dystrophy ke sesebelisoa se hloahloa: www.mda.org

Ka kakaretso, batho ba tloaetse ho ba le bofokoli bo ntseng bo mpefala butle-butle mesifa e amehileng le ho ata.

Lefu lena le baka tahlehelo ea motsamao. Motho eo a ka its'etleha ka setulo sa likooa nakong ea lilemo tse 20 ho isa ho tse 30.

Ho fokola ha mesifa ea pelo le ts'ebetso e sa tloaelehang ea motlakase pelong ho ka eketsa menyetla ea ho opa, ho akheha le lefu la tšohanyetso. Boholo ba batho ba nang le sehlopha sena sa mafu ba phela ho fihlela ba le batho ba baholo, empa ha ba fihlelle nako e felletseng ea ho phela.

Batho ba nang le li-dystrophi tsa mesifa ea maoto le matsoho ba ka ba le mathata a kang:

• Morethetho o sa tloaelehang oa pelo
• Likonteraka tsa manonyeletso
• Mathata a nang le mesebetsi ea bophelo ba letsatsi le letsatsi ka lebaka la bofokoli ba mahetla
• Bofokoli bo tsoelang pele, bo ka lebisang ho hloka setulo sa likooa

Bitsa mofani oa tlhokomelo ea bophelo haeba uena kapa ngoana oa hau a ikutloa a fokola ha a ntse a phahama. Bitsa setsebi sa liphatsa tsa lefutso haeba uena kapa setho sa lelapa se fumanoe se e-na le lefu la ho senyeha ha mesifa, 'me u rera ho ima.

Tlhabollo ea lefutso e se e fuoa batho ba amehileng le malapa a bona. Haufinyane tlhahlobo ea limolek'hule e tla kenyelletsa tatellano ea liphatsa tsa lefutso ho bakuli le ho beng ka bona ho ntlafatsa tlhahlobo. Tlhabollo ea lefutso e ka thusa banyalani le malapa ho ithuta ka likotsi le ho thusa ka thero ea malapa. E boetse e lumella ho hokela bakuli ba nang le lingoliso tsa mafu le mekhatlo ea bakuli.

A mang a mathata a ka thibeloa ka kalafo e nepahetseng. Mohlala, pacemaker ea pelo kapa defibrillator e ka fokotsa haholo kotsi ea lefu la tšohanyetso ka lebaka la morethetho o sa tloaelehang oa pelo. Phekolo ea 'mele e ka khona ho thibela kapa ho liehisa likonteraka le ho ntlafatsa bophelo.

Batho ba amehileng ba kanna ba batla ho etsa banking ea DNA. Ho khothaletsoa tlhahlobo ea DNA bakeng sa ba amehileng. Sena se thusa ho khetholla phetoho ea liphatsa tsa lelapa. Hang ha phetoho e fumanoa, ho hlahlojoa ha bakhachane le tlhahlobo ea liphatsa tsa lefutso pele ho tsoalo ho ka khoneha.

Mofuta oa dystrophy - mofuta oa lebanta la leoto (LGMD)

• Mesifa ea ka ntle e kantle

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

Finkel RS, Mohassel P, Bonnemann CG. Lebanta la tsoalo, leoto le li-dystrophies tse ling tsa mesifa. Ka: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology. La 6th. Elsevier; 2017: khaolo ea 147.

Mohassel P, Bonnemann CG. Limb-senyepa mesifa dystrophies. Ka: Darras BT, Jones HR, Ryan MM, DeVivo DC, bahlophisi. Mathata a Neuromuscular Ho tloha boseeng, bongoaneng le bocha. Lekhetlo la bobeli. Waltham, MA: Khatiso ea Litaba tsa Elsevier; 2015: khaolo ea 34.