Duchenne mesifa dystrophy

Duchenne muscular dystrophy ke lefu la mesifa le futsitsoeng. E kenyelletsa bofokoli ba mesifa, bo ntseng bo mpefala kapele.

Duchenne muscular dystrophy ke mofuta oa ho senyeha ha mesifa. E mpefala kapele. Li-dystrophies tse ling tsa mesifa (ho kenyeletsoa Becker muscular dystrophy) li mpefala butle butle ho feta.

Duchenne muscular dystrophy e bakoa ke lefutso le nang le sekoli bakeng sa dystrophin (protheine e mesifeng). Leha ho le joalo, hangata e hlaha ho batho ba se nang nalane ea lelapa e tsebahalang ea boemo boo.

Boemo hangata bo ama bashanyana ka lebaka la tsela eo lefu lena le futsitsoeng ka eona. Bara ba basali bao e leng bajari ba lefu lena (basali ba nang le lefutso le sa sebetseng, empa ha ho na matšoao ka bobona) e mong le e mong o na le monyetla oa 50% oa ho ba le lefu lena. Barali ka bomong ba na le monyetla oa 50% oa ho ba bajari. Hangata haholo basali ba ka angoa ke lefu lena.

Duchenne muscular dystrophy e etsahala ho masea a le 1 ho a mang le a mang a 3600 a batona. Hobane hona ke bokuli bo futsitsoeng, likotsi li kenyelletsa nalane ea lelapa ea Duchenne muscular dystrophy.

Matšoao a atisa ho hlaha pele ho lilemo tse 6. A ka hlaha esale bongoaneng. Bashemane ba bangata ha ba bontše matšoao lilemong tsa pele tsa bophelo.

Matšoao a ka kenyelletsa:

• Mokhathala
• Mathata a ho ithuta (IQ e ka ba tlase ho 75)
• Bokooa ba kelello (hoa khoneha, empa ha bo mpefale ha nako e ntse e tsamaea)

Bofokoli ba mesifa:

• E qala maotong le thekeng, empa e boetse e hlaha ka thata matsohong, molaleng le libakeng tse ling tsa 'mele
• Mathata ka tsebo ea makoloi (ho matha, ho qhomela, ho tlola)
• Ho oa khafetsa
• Mathata a ho phahama sebakeng sa leshano kapa ho hloa litepisi
• Phefumoloho e khutšoanyane, mokhathala le ho ruruha ha maoto ka lebaka la ho fokola ha mesifa ea pelo
• Bothata ba ho hema ka lebaka la ho fokola ha mesifa ea phefumoloho
• Ho mpefala butle-butle ha bofokoli ba mesifa

Bothata bo tsoelang pele ba ho tsamaea:

• Matla a ho tsamaea a ka lahleha ha a le lilemo li 12, mme ngoana o tla tlameha ho sebelisa setulo sa likooa.
• Mathata a phefumolohang le lefu la pelo hangata li qala ka lilemo tse 20.

Sistimi e felletseng ea methapo (methapo ea kutlo), tlhahlobo ea pelo, ea matšoafo le ea mesifa e ka bonts'a:

• Mosifa o sa tloaelehang, oa pelo o kulang (cardiomyopathy) o bonahala ka lilemo tse 10.
• Ho hloleha ha pelo ka pelo kapa pelo e sa tloaelehang (arrhythmia) ho batho bohle ba nang le Duchenne muscular dystrophy ha ba le lilemo li 18.
• Ho holofala ha sefuba le morao (scoliosis).
• Matšoao a atolositsoeng a manamane, likoti le mahetla (ho pota lilemo tse 4 kapa tse 5). Matšoao ana a qetella a nkeloa sebaka ke mafura le likhokahano tse sebetsang (pseudohypertrophy).
• Ho lahleheloa ke boima ba mesifa (ho senya).
• Likonteraka tsa mesifa lirethe, maoto.
• Ho holofala ha mesifa.
• Mathata a phefumoloho, ho kenyelletsa pneumonia le ho metsa ka lijo kapa mokelikeli o fetang matšoafong (maemong a morao a lefu lena).

Liteko li ka kenyelletsa:

• Electromyography (EMG)
• Liteko tsa lefutso
• Biopsy ea mesifa
• Serum CPK

Ha ho na pheko e tsebahalang ea Duchenne muscular dystrophy. Kalafo e ikemiselitse ho laola matšoao ho ntlafatsa boleng ba bophelo.

Lithethefatsi tsa steroid li ka liehisa tahlehelo ea matla a mesifa. Li ka qala ha ngoana a fumanoa kapa ha matla a mesifa a qala ho fokotseha.

Mefuta e meng ea kalafo e ka kenyelletsa:

• Albuterol, sethethefatsi se sebelisetsoang batho ba nang le asma
• Li-amino acid
• Letsoalo
• Coenzyme Q10
• Sebopeho
• Oli ea litlhapi
• Lihlahisoa tse tala tsa tee
• Vithamine E

Leha ho le joalo, litlamorao tsa kalafo tsena ha li so pakoe. Lisele tsa stem le kalafo ea liphatsa tsa lefutso li ka sebelisoa nakong e tlang.

Ts'ebeliso ea li-steroids le khaello ea boikoetliso li ka lebisa ho nona haholo. Ketsahalo e ea khothatsoa. Ho se sebetse (joalo ka bethe) ho ka mpefatsa lefu la mesifa. Phekolo ea 'mele e ka thusa ho boloka matla le ts'ebetso ea mesifa. Phekolo ea puo hangata ea hlokahala.

Mefuta e meng ea kalafo e ka kenyelletsa:

• Ho kenya moea o thusang (o sebelisoang motšehare kapa bosiu)
• Lithethefatsi ho thusa pelo ho sebetsa, joalo ka angiotensin e fetolang li-enzyme inhibitors, beta blockers le diuretics
• Lisebelisoa tsa masapo (joalo ka lithupa le litulo tsa likooa) ho ntlafatsa tsamaiso
• Ho buuoa ka mokokotlo ho phekola scoliosis e tsoelang pele bakeng sa batho ba bang
• Proton pump inhibitors (bakeng sa batho ba nang le reflux ea gastroesophageal)

Litlhare tse 'maloa tse ncha li ntse li ithutoa litekong.

U ka fokotsa khatello ea maikutlo ea bokuli ka ho kenella sehlopheng sa ts'ehetso moo litho li arolelanang liphihlelo tse tšoanang le mathata. Mokhatlo oa Muscular Dystrophy ke mohloli o motle oa tlhaiso-leseling ka lefu lena.

Duchenne muscular dystrophy e lebisa ho holofaleng butle-butle. Lefu hangata le hlaha ha motho a le lilemo li 25, hangata a tsoa ho mathata a matšoafo. Leha ho le joalo, tsoelo-pele ea tlhokomelo e tšehetsang e felletse ka hore banna ba bangata ba phele halelele.

Mathata a ka kenyelletsa:

• Cardiomyopathy (e ka boela ea hlaha ho bajari ba basali, ba lokelang ho hlahlojoa)
• Ho hloleha ha pelo ea pelo ea motho ka mong (ka seoelo)
• Ho holofala
• Li-arrhythmias tsa pelo (tse sa tloaelehang)
• Ho holofala kelellong (ho fapana, hangata ho fokola)
• Bokooa bo sa feleng, bo tsoelang pele, ho kenyeletsoa le ho fokotsa ho tsamaea le ho fokotsa bokhoni ba ho itlhokomela
• Pneumonia kapa mafu a mang a phefumolohang
• Ho hloleha ho phefumoloha

Bitsa mofani oa tlhokomelo ea bophelo haeba:

• Ngoana oa hau o na le matšoao a Duchenne muscular dystrophy.
• Matšoao a mpefala, kapa ho hlaha matšoao a macha, haholo feberu e nang le mathata a ho khohlela kapa a ho hema.

Batho ba nang le nalane ea malapa ea lefu lena ba ka batla ho fumana tlhabollo ea lefutso. Liphuputso tsa lefutso tse entsoeng nakong ea bokhachane li nepahetse haholo ho fumaneng Duchenne muscular dystrophy.

Pseudohypertrophic muscular ho senyeha ha maikutlo; Muscular dystrophy - Mofuta oa Duchenne

• Liphoso tsa lefutso tse amanang le X - hore na bashanyana ba ameha joang
• Liphoso tse fetelletseng tsa liphatsa tsa lefutso tsa X

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Webosaete ea Mokhatlo oa Muscular Dystrophy. www.mda.org/disease/duchenne-muscular-dystrophy. E fihlile ka la 27 Mphalane, 2019.

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