Duchenne musele o le tiva

Duchenne muscular dystrophy o se faʻamaʻi musele tuufaasolo. E aofia ai vaivaiga maso, lea e vave ona leaga.

Duchenne muscular dystrophy o se ituaiga o muscular dystrophy. E vave leaga. Isi muscular dystrophies (aofia ai Becker muscular dystrophy) faasolo lemu leaga.

Duchenne muscular dystrophy e mafua mai i se le atoatoa genes mo dystrophin (o se polotini i maso). Peitai, e masani ona tupu i tagata e aunoa ma se lauiloa aiga talaʻaga o le tulaga.

O le tulaga e masani ona aʻafia tama ona o le auala na maua ai le faʻamaʻi. O tama tamaʻitaʻi o loʻo feaveaʻia le faʻamaʻi (fafine e le atoatoa le gafa, peitaʻi e leai ni faʻailoga latou) e tofu ma le 50% avanoa e maua ai i lenei faʻamaʻi. E tofu le fanau teine ​​ma le 50% avanoa e avea ai ma avega. E seasea lava, e mafai ona aʻafia se fafine ile faʻamaʻi.

Duchenne muscular dystrophy tupu i le tusa o le 1 mai le 3600 tama pepe. Talu ai o lenei o se faʻamaʻi tofi, o tulaga lamatia aofia ai le aiga talaʻaga o Duchenne muscular dystrophy.

Faʻailoga e masani ona aliali mai ae leʻi oʻo i le tausaga 6. Latou te ono oʻo mai a o laiti. Tele tama e leai ni faʻailoga i uluaʻi tausaga o le olaga.

Faʻailoga e ono aofia ai:

• Le lavava
• Aʻoaʻoga faigata (o le IQ mafai ona i lalo 75)
• Le atoatoa le malosi o le mafaufau (mafai, ae le leaga atili ile taimi)

Vaivai maso:

• Amata i vae ma pelvis, ae faʻapea foi ona tupu laʻititi ifo le ogaoga i lima, ua, ma isi vaega o le tino
• Faʻafitauli ma tomai afi (tamoʻe, osooso, osooso)
• Paʻu masani
• Faʻalavelave mai i luga mai le pepelo tulaga poʻo le aʻea sitepu
• Paʻu le manava, lelava ma fulafula o vae ona o le vaivai o le fatu maso
• Faʻafitauli manava ona o le faʻavaivaia o maso manava
• Faʻasolosolo faʻateleina o maso vaivai

Alualu i luma alualu i luma savavali:

• O le mafai ona savali e ono leiloa i le 12 tausaga, ma o le tamaititi e tatau ona faʻaaoga se nofoa faʻataʻavalevale.
• Manava manava ma fatu fatu masani lava ona amata i le 20 tausaga.

E mafai ona faʻaalia se faʻataʻitaʻiga o neula (neura), fatu, māmā, ma maso maso:

• E le masani ai, maʻi fatu fatu (cardiomyopathy) e aliali mai ile 10 tausaga.
• O le faʻamaʻi o le fatu poʻo le le masani ai o le fatu fatu (arrhythmia) o loʻo i ai i tagata uma e maua i le Duchenne muscular dystrophy i le 18 tausaga.
• Faʻaleagaina o le fatafata ma tua (scoliosis).
• Faʻateleina maso o tamaʻi povi, faʻamau, ma tauʻau (tusa o le 4 poʻo le 5 tausaga). O maso nei e iʻu lava ina suia e gaʻo ma mea fesoʻotaʻi (pseudohypertrophy).
• Leiloa o maso maso (faʻamaimauina).
• Faʻamavae maso i mulivae, vae.
• Maso masei.
• Faʻafitauli o le manava, e aofia ai le niumonia ma foloina i meaai poʻo le suavai alu atu i le mama (i le mulimuli vaega o le faʻamaʻi).

O suʻega e mafai ona aofia ai:

• Electromyography (EMG)
• Suʻega ole Kenetic
• Maso biopsy
• Serum CPK

E leai se faʻailoaina lauiloa mo Duchenne muscular dystrophy. Togafitiga faʻamoemoe e pulea faʻailoga e faʻaleleia atili ai le tulaga lelei o le olaga.

O vailaʻau faʻasāina e mafai ona telegese ai le leai o se malosi o maso. E mafai ona amata pe a faʻamaonia le tamaititi pe amata foi ona faʻavaivaia le malosi o maso.

Isi togafitiga ono aofia ai:

• Albuterol, o se vailaʻau faʻaaogaina mo tagata e maua i le foma
• Amino acid
• Carnitine
• Coenzyme Q10
• Foafoaga
• Suauʻu iʻa
• Faʻamatalaga lauti lauti lanumeamata
• Vitamini E

Peitai, o aʻafiaga o nei togafitiga e leʻi faʻamaonia. Pogai sela ma gen togafitiga mafai ona faʻaaogaina i le lumanaʻi.

O le faʻaaogaina o vailaʻau faʻasolosolo ma le leai o se faʻamalositino e mafai ona taitai atu ai i le tele o le mauaina o le mamafa. Gaoioiga e faamalosia. O le le faʻagaoioia (pei o le moega) e mafai ona atili ai ona leaga ai le maʻi. Faʻamalositino togafitiga e mafai ona fesoasoani e faʻamalosia maso malosi ma gaioiga. Tautalaga togafitiga e masani ona manaʻomia.

Isi togafitiga ono aofia ai:

• Fesoasoani ea (faʻaaoga i le ao po o le po)
• Fualaʻau e fesoasoani ai i le fatu galue, pei o le angiotensin liua o le iniseti inhibitors, beta blockers, ma diuretics
• Masini Orthopedic (e pei o taofi ma nofoa uili) e faʻaleleia ai le feoaʻi
• Spine taotoga e togafitia alualu i luma scoliosis mo nisi tagata
• O poloka poloka poloka poloka (mo tagata e maua i le gastroesophageal reflux)

E tele togafitiga fou o loʻo suʻesuʻeina i tofotofoga.

Oe mafai ona faʻafaigofieina le popolevale o maʻi e ala i le auai i se lagolago kulupu e faʻasoa ai tagata o le ekalesia i mea masani masani ma faʻafitauli. O le Muscular Dystrophy Association o se sili sili lelei faʻamatalaga o lenei faʻamaʻi.

Duchenne muscular dystrophy e tau atu i le alualu i luma matua faateleina le atoatoa. E masani ona tupu le oti ile tausaga 25, e masani ona maua ile maʻi ole mama. Ae ui i lea, o le alualu i luma i le lagolagosua tausiga na mafua ai le tele o tamaloloa ola umi.

Faʻafitauli e ono aofia ai:

• Cardiomyopathy (mafai foi ona tupu i fafine feaveaʻiga, oe tatau foi ona siakiina)
• Paʻu fatu fatu (seasea)
• Eseese
• Fatu fatu (seasea)
• Faʻaleagaina o le mafaufau (e fesuisuiaʻi, e masani ona laʻititi)
• Tumau, alualu i luma le atoatoa, aofia ai ma le faʻaititia o le fealuaʻi ma le faʻaititia o le mafai gafatia e tausi mo oe lava
• Paʻu poʻo isi faʻamaʻi manava
• Faʻamalologa manava

Valaʻau lau fomaʻi pe a fai:

• E i ai i lou alo faʻailoga o le Duchenne muscular dystrophy.
• Faʻailoga e atili ai ona leaga, pe o ni faʻailoga fou e tupu, aemaise lava le fiva i le tale poʻo le manava faʻafitauli.

Tagata e iai le talaʻaga aiga o lenei faʻamaʻi ono manaʻo e saili fautuaga faʻafesagaʻi. Suesuega masani faia i le taimi o maitaga e matua saʻo i le mauaina o Duchenne muscular dystrophy.

Pseudohypertrophic musele lapoʻa; Musele o le toto - Duchenne ituaiga

• X-fesoʻotaʻi faʻafetaui gafa tino - pe faʻapefea ona aʻafia tama
• X-fesoʻotaʻi faʻafetauaiga tupuaga faʻafitauli

Bharucha-Goebel DX. Faʻamalologa maso. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 627.

'Upega tafaʻilagi Muscular Dystrophy Association. www.mda.org/disease/duchenne-muscular-dystrophy. Avanoa ia Oketopa 27, 2019.

Selcen D. Faʻamaʻi maso. I totonu: Goldman L, Schafer AI, eds. Faʻafomaʻi Goldman-Cecil. 26th lomiga. Filatelefia, PA: Elsevier; 2020: mata 393

Warner WC, Sawyer JR. Faʻafitauli neuromuscular. I le: Azar FM, Beaty JH, Canale ST, eds. Campbell's Operative Orthopedics. 13th lomiga. Filatelefia, PA: Elsevier; 2017: mata 35.