Becker muscular dystrophy

Becker muscular dystrophy kahi hoʻoilina hoʻoilina e pili ana i ka nāwaliwali o ka nāwaliwali o nā wāwae a me nā pelvis.

ʻO ka Becker mustrular dystrophy ka mea like me Duchenne muscular dystrophy. ʻO ka ʻokoʻa nui ʻoi aku ka maikaʻi o ka piʻi ʻana a emi iki ia. Hoʻokumu ʻia kēia maʻi e ka hoʻololi ʻana i loko o ka ʻenemi i encode i kahi protein i kapa ʻia ʻo dystrophin.

Hoʻoholo ʻia ka maʻi i loko o nā ʻohana (hoʻoilina). ʻO ka loaʻa ʻana o ka mōʻaukala ʻohana o kēia ʻano e hoʻāla aʻe i kou makaʻu

Hana ʻia ʻo Becker mustrular dystrophy ma kahi o 3 a 6 o kēlā me kēia 100,000 hānau. Loaʻa ka maʻi i ka hapanui o nā keikikāne.

ʻAʻole hoʻomohala iki nā wahine i nā ʻōuli. E ulu nā kāne i nā hōʻailona inā hoʻoilina lākou i ka ʻāpana hemahema. Hōʻike pinepine ʻia nā ʻōuli ma nā keikikāne ma waena o 5 a 15 mau makahiki, akā hoʻomaka paha ma hope.

ʻO ka nāwaliwali o ka mākala o ke kino o lalo, e like me nā wāwae a me nā pelvis, e ʻemi malie ana, a laila

• Ke hele nei i ka paʻakikī paʻakikī ma mua o ka manawa; i ka makahiki 25 a 30, hiki ʻole i ke kanaka ke hele wāwae
• Hāʻule pinepine
• Kū i luna ka paʻakikī mai ka papahele a piʻi i nā ʻanuʻu
• Ka paʻakikī me ka holo ʻana, ka lele ʻana, a me ka lele ʻana
• Lilo o ka nui o nā mākala
• Hele wāwae wāwae
• ʻO ka nāwaliwali o nā mākala ma nā lima, ka ʻāʻī, a me nā wahi ʻē aʻe ʻaʻole koʻikoʻi e like me ka haʻahaʻa o ke kino

Hiki i nā ʻōuli ʻē aʻe ke:

• Nā pilikia hanu
• Nā pilikia ʻike (ʻaʻole eʻoi aku ka hewa o kēia mau mea i ka manawa)
• Ka luhi
• Loaʻa o ke kaulike a me ka hoʻohui ʻana

E hana ka mea mālama ola i kahi ʻōnaehana nerve (neurological) a me ka hoʻāʻo ʻana i nā mākala. He mea nui ka mōʻaukala olakino pono, no ka mea like nā ʻōuli me nā Duchenne muscular dystrophy. Eia naʻe, ʻo Becker mustrular dystrophy e ʻoi aku ka ʻino o ka hele.

ʻIke paha kahi hōʻike:

• Nā iwi Abnormally hoʻomohala, e alakaʻi ana i nā deformities o ka umauma a me ke kua (scoliosis)
• ʻO ka hana puʻuwai puʻuwai maʻamau (cardiomyopathy)
• Hanakē puʻuwai Congestive a i ʻole kūʻē heartregat (arrhythmia) - kākaʻikahi
• ʻO nā deformities Muscle, e like me nā kuʻina o nā kuʻekuʻe wāwae a me nā wāwae, momona momona a me nā mea hoʻopili i nā mākua bipi
• ʻO ka nalowale o ka mākala e hoʻomaka i nā wāwae a me ke pelvis, a laila neʻe i nā mākala o nā poʻohiwi, ʻāʻī, lima, a me ka ʻōnaehana hanu

ʻO nā hoʻāʻo e hana ʻia ana paha:

• Hōʻike koko CPK
• ʻImi hoʻāʻo uila (EMG)
• ʻO ka biopsy Muscle a i ʻole ka hoʻāʻo ʻana i ke koko

ʻAʻohe lāʻau i ʻike ʻia no Becker mustrular dystrophy. Eia nō naʻe he nui nā lāʻau hou e hana nei i nā hoʻokolohua hoʻokolohua e hōʻike i ka hoʻohiki koʻikoʻi i ka mālama ʻana i ka maʻi. Kau ʻia kekahi mau mea hāʻawi i nā steroid e kōkua i ka mālama ʻana i ka mea maʻi e hele ana no ka lōʻihi e hiki ai.

Paipai ʻia ka hana. ʻO ka hana ʻole (e like me ka hoʻomaha moe) hiki ke hōʻeha i ka maʻi muscle. Hiki ke kōkua i ke olakino hoʻoikaika kino e mālama i ka ikaika o nā mākala. Hiki i nā mīkini Orthopedic e like me nā kauhulu a me nā noho huila ke hoʻomaikaʻi i ka neʻe a me ka mālama pono ʻana iā ia iho.

Pono paha ka hana naʻau maʻamau i ka hoʻohana ʻana i ka mea mālama i ka maʻi.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic. ʻO nā kaikamahine a kahi kāne me Becker mustrular dystrophy e lawe paha i ka ʻāpana hemahema a hiki ke hoʻoili i kā lākou keiki kāne.

Hiki iā ʻoe ke hoʻomāmā i ke koʻikoʻi o ka maʻi ma ke komo ʻana i kahi pūʻulu kākoʻo mustrular distrophy kahi e puʻunaue ai nā lālā i nā ʻike a me nā pilikia maʻamau.

Becker muscular dystrophy hiki i ka hōʻemi ʻana o ke kīnā ʻole. Eia nō naʻe, ʻokoʻa ka nui o ke kīnā. Pono paha kekahi poʻe i kahi noho huila. Pono paha nā poʻe ʻē aʻe e hoʻohana i nā kōkua hele wāwae e like me ke kō a i ʻole nā ​​pale.

Hoʻopōkole pinepine ʻia ke ola inā he naʻau a me nā pilikia hanu.

Komo pū nā pilikia:

• Nā pilikia pili i ka naʻau e like me ka cardiomyopathy
• Hoka maikaʻi ʻole
• Poniaonia a i ʻole nā ​​maʻi hanu ʻē aʻe
• ʻO ka hoʻonui a paʻa mau i ke kīnā ʻole e alakaʻi i ka hōʻemi i ka hiki ke mālama iā ʻoe iho, hoʻemi i ka neʻe

Kāhea i kāu mea hāʻawi inā:

• Hōʻike ʻia nā ʻōuli o Becker mustrular dystrophy
• ʻO ke kanaka me Becker muscular dystrophy e hoʻomōhala i nā ʻōuli hou (ʻoiai ke kuni me ka ʻū a me nā pilikia hanu)
• Ke hoʻolālā nei ʻoe e hoʻomaka i kahi ʻohana a ua ʻike ʻia ʻoe a i ʻole kekahi mau ʻohana ʻē aʻe me ka Becker mustrular dystrophy

Kūkā ʻia paha ka ʻōlelo aʻoaʻo genetic inā aia kekahi moʻolelo ʻohana o Becker mustrular dystrophy.

Bentr pseudohypertrophic muscular dystrophy; ʻO Becker's distrophy

• Nā mākala mua ma mua
• Nā mākala mua hohonu
• Tendons a me nā mākala
• Nā mākala wāwae lalo

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ʻO Bharucha-Goebel DX. Nā maʻi maʻi muscular. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 627.

ʻO Gloss D, Moxley RT III, Ashwal S, Oskoui M. Hoʻomaʻamaʻa kuhikuhi alakaʻi: hōʻuluʻulu corticosteroid o Duchenne muscular dystrophy: hōʻike o ke Kōmike Hoʻomohala Alakaʻi o ka American Academy of Neurology. Neurology. 2016; 86 (5): 465-472. PMID: 26833937 pubmed.ncbi.nlm.nih.gov/26833937/.

Selcen D. Nā maʻi maʻi. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 393.