Spinal muscular atrophy: Symptoms a me ka iapaau ana

Spinal muscular atrophy hoike mai ai ia ia iho i loko o kakahiaka kamaliʻi. Ka mua symptoms e hou i kakahiaka nui me 2-4 mahina o ka makahiki. Kēia mea he ili maʻi i ua wehewehe aku ma ka mea i loko o ka lolo kumu nā aʻalolo aeee i nā make.

ano keia ano o ka pilikia

Ke kaumaha ma muli ia o ka mua symptoms o ka maʻi, i ka oolea a me ka aoao maoli o ka pele atrophic loli kuhikuhi i kekahi mauʻano o ka maʻi.

Spinal muscular atrophy hiki Hawaiʻi:

- ka mua type: huʻi (palapala Verdiga-Hoffmann);

- i ka lua o ka type: waena (infantile, maʻi);

- i ke kolu o ka type: ka palapala Kugelberg-Welander maʻi (maʻi, nā 'ōpio).

Ekolu ano o ka ia mai ai ka haohao ana ma ka mea mahuʻi 'Oihana ma muli o ke okoa mutations i loko o kekahi, a me ka ia'ōewe. Spinal muscular atrophy mea he autoimmune mai i ka ia lŘlŘ ka wā'āina hoʻoili o nā recessive nā'ōewe, kekahi ma kēlā me kēia makua. Mutational hapa 5 o loko o ka chromosome. He makana i loko o nā 40 kanaka. Ke'ōewe kuleana no ka hoʻopā'ālua i kumuʻiʻo e hōʻoiaʻiʻo i ke ola ana o ka Hawaii neurons i loko o ka spinal kaula. Inā keia kaʻina ua Nyos, na neurons make.

Verdin-Hoffmann maʻi

Manao i ka pilikia hiki ia i hāpai keiki. Inā i ke keiki e hoʻomōhala ana i spinal muscular atrophy type 1, ka mea, ua pinepine mālama sluggish a me ka hopena o fetal neʻeʻana i hāpai keiki. i ka hanau hope, kauka ke diagnose generalized hypotonia Muscle.

Atrophy hoomaka eʻikea au i loko o ka mahina mua o ke ola. Pinepine i loko o ka proximal wahi fascicular twitching o na nāʻiʻo o ke kua, kumu,ʻaoʻao. Pū akula nō hoʻi a me ka bulbar kāna hana. Mau nā ilihune keiki omo, nawaliwali kāheaʻana, hoʻopōʻino moni 'ia. Children me ka maʻi pinepine Verdin-Hoffmann kaulana emi ka luaʻi, cough, pharyngeal, palatal reflexes. Ka mea, i hoailona oukou fibrillation'ōlelo nāʻiʻo.

Akā, i ka ole a pau i ka hoailona ma i spinal muscular atrophy hiki ke nānā '. Symptoms ano o ka maʻiʻano 1 nā nawaliwali, a me ka intercostal nāʻiʻo. Ma keia pahu nana e like me ka flattened kao keiki.

Ma ka mahina mua o ke ola, e like me na keiki e ae pinepine mai naehana nā mea palahēhē, pneumonia a me na pono kīvila.

ʻike, no ka maʻi Verdin-Hoffmann

Ho oholo i ka maʻi, ua hiki ina e nana i ke keiki. Aia nō i ka helu o ka lapaʻau hoailona no ka i 'Oihana ke hooholo i ka pēpē ili spinal muscular atrophy. ʻike, nā:

- biochemical Ka Ikepili o ke koko (ka mea e e ike i ka hōʻemi iki mahuahua ma ka creatinine phosphokinase a me ka aldolase);

- electromyographic like (i ka pio ana o ka anterior pepeiaohao o ka spinal kaula, e hōʻike i ka pāpana o ka lāʻauʻoiʻoi i);

- histological ninaninau o skeletal Muscle (hōʻike 'he mau huhui o ua hoʻokōʻia liʻiliʻi puluniu).

Spinalʻaha Microscopy (kona anterior pepeiaohao) hōʻike i loaʻa i degenerative loli i loko o ka Hawaii nuclei o cranial nā aʻalolo. Aia He He globular nani a me / ai shrinkage o Hawaii keena, microglial a me astrocytic ka hoʻonuiʻana, hromatolizis. Mauʻike manaʻo pū 'oe me keʻano o ke anuanu glial olona.

He nui ka hana i ka palena pauʻike, e hookaawale ia ke aloha aciduria, congenital myopathy a mall hoʻohālike pemalinovuyu, miotubulyarnuyu myopathy 'ole mai o ke kikowaena kookoo.

Ka olelo wanana a atrophyʻano aʻu e

Ke kaumaha ma muli o ka nui o ke poho, Verdin-Hoffmann maʻi ke hoike mai ai ia ia iho i nā lā mua ma hope o ka hānau. Poe akamai, a hiki ma ke kahua o ke keiki hiki ke ea ae ia ka mea, he spinal muscular atrophy. Photos o nā keiki, ua 'ano like: ka mea moe ma ka rana oweliweli. Lala ma ke ki kala a me ka'ūhā mua ami i waiho ia, a me ka kuʻekuʻe aku, a kukuli - kūlou.

Ka mea mua e hana eha iaʻi e proximal ke aupuni ' haʻahaʻa lala nāʻiʻo. Ke kaʻina hana o ka luku hele ma ka uplink. Me ka Holomua o ka maʻi e loli ai na nāʻiʻo o ka larynx a me ka pharynx. Ua ka hana i ka maʻi hoike mai ai ia ia iho, ma hope. Akā, i ka mokuna o ka makahiki o 6 mahina. hiki a hiki Children hoʻomaka e hookiekie ae i kona poo, a olokaa ma, akā, ka mea, aole noho i lalo.

Most keiki make mai ka naau, naehana e hemahema, a no nā mea palahēhē i loko o ka makahiki mua o ke ola. More ma mua o 70% o nā keiki make mua 2 makahiki. Up i 5 makahiki o kona mau makahiki e ola ana mai ma kahi o 10% o kēia mau keiki.

Atrophy Type II

Ma kekahi mau hihia, ma laila i e'ē aʻe nā mea e hiki wale mai. Spinal muscular atrophy type 2 akaka kekahi hope. I hookuu i ka mua hoailona i malama ma ka makahiki o ka 8-14 mahina. No kēia mau keiki ano ua generalized Muscle nawaliwali, a me ka hypotonia.

About ka maʻi hoike thinned manamana e hōʻike 'fascicular tremors ma na nāʻiʻo o ka proximal lala, i loko o nā fingertips. Na keiki i ka manawa o ka maʻamau? Acaeoey. Ka mea, eia ka hoi i ka makahiki hoʻomaka e malama i kou poo, ae noho iho. Akā,ʻaʻole e kamailio e pili ana i ka hoʻoponopono-hele.

Children ke waiu a me ke ale wale iho maʻamau, i kakahiaka nui ke keiki a naehana kuleana pili i ua ole hihia hoʻi. Akā, ma manawa, Muscle nawaliwali hoʻomaka e holomua. Ma mua makahiki,, he mea e haule ana na moni 'ia pilikia he nasal leo o ka leo. Kekahi o ka loa, he pono ole complications i loko o nā mea maʻi me ka nui ola expectancy mea scoliosis.

Ke prognosis o type II atrophy

I loko nō o ka mea i ke keiki ke hoʻomōhala maʻamau i nā mahina mua, i ke kahua ua deteriorating me ka manawa. Ma ka makahiki o nā keikiʻelua nalowale lala tendon reflexes. Ma ia laua, i ka intercostal nāʻiʻo hoonawaliwali. E like me ka hopena, ua flattened ka thorax, hoolohi Hawaii ulu ikeia.

Wale 25% o nā keiki poe i ua diagnosed me spinal muscular atrophy, e lakou ia lakou iho e noho a ku i kākoʻo. Hope kuʻina o ka maʻi wehewehe aku ma ka helehelena kyphoscoliosis. He nui na keiki make ma waena o nā makahiki o 1 a me 4 makahiki. Ka loa e like me ka kumu o ka make i pneumonia a naehana Muscle ole.

A hiki akuʻoe e hoʻouka i kaʻike, Spinal muscular atrophy mea e pono ia e ka palena pauʻike, me ka congenital paha mall myopathies, atonic-astatic ano o cerebral lolo.

More ma mua o 70% o nā mea maʻi ola oi aku i na makahiki elua. Ke ola expectancy o kēia mau keiki nei a puni 10-12 makahiki.

Kugelberg-Welander maʻi

Ka loa maikaʻi prognosis i loko o nā mea maʻi poe i ua diagnosed me spinal muscular atrophy type III. Ua hiki ke kanaka kahiko, i 20 makahiki. Loa pinepine i ka hoike ana mua ua kākau ma ka makahiki o ka 2-7 makahiki. Ka mea mua, e ae aku i ka proximal nāʻiʻo o nā pelvis.

E hoomanawanui i ka pilikia ma ka hele ana, holo, ala mai ka squatting kulana, a me ka nele no ka pii anuu. He waiwai e hoomanao ana i ka lapaʻau hoike ana mai o ka maʻi i loko o keia palapala i ano like me ia e holumua ai dystrophy Becker.

Proximal māhele o nā mea kaua a me ka'ūhā mua kaei e loli wale i kekahi mau makahiki ma hope o ka symptoms mua o ka maʻi. Over manawa, ka ino thorax i Konakele. Fascicular tremor o na lima, a kipi contraction o kekahi Muscle pūʻulu. Kēia ho'ēmi i kā tendon reflexes, a hoʻomaka i holopono nō iwi deformation. Loli umauma, wawae, puʻupuʻu wāwae, scoliosis o ka spine ikeia.

Ke prognosis o ka maʻi type III

Kugelberg-Welander maʻi - Ua spinal muscular atrophy makua. I ka maʻi no na makahiki, mau complicating na ola o nā mea maʻi, akā, 'aʻole e alakai i kā lākou mau loa kīnā o ke kino. Ua progresses lohi. No laila, ka hapanui kanaka me kēiaʻike, e ola i ka adulthood.

Ma mua o lapaʻau ia mea nui ia e ka palena pauʻike, a me nā muscular dystrophies, glycogen pūnaewele maʻi type 5 a me mall myopathies. Aia o kekahi papa hana ma ka a mākou i ke hooholo spinal atrophy. He He pololei DNA lapaʻau 'ana. He pono, no ka mea, o ka lapaʻau hoike ana mai o ka maʻi, Kugelberg-Welander maʻi ke oko a.

Kahi o 50% o nā mea maʻi nele i ka hiki i ka hele 12 makahiki. I ka progresses keia Muscle nawaliwali me ka elemakule wale. Mālama hypermobility a me ka olelo contractures, he mea ka māhuahua kamepiula o fractures.

nui hiʻona

E like me ka rula, o ka maʻi Verdin Hoffmann-diagnosed i loko o ka mua mau mahina o ke ola. Inā i ke keiki i ole holo mai ka hanau ana, ka mea, aole ia e ola mai i ka oiaio, i ka malama hookahi.

Nawaliwali, a me ka Muscle contraction i loko o kona wā kamaliʻi, lima tremor a hoolohi Hawaii? Acaeoey, a e Alert kahuna lapaau a me na makua. Mau keiki mai i ku mai ma kona mau wawae. Wale hiki i ka hapaha o nā mea a pau e hoomanawanui i ke ku i kākoʻo. Kids hoʻopaʻaʻia i ka noho huila.

Akā, me ka loa ole, e kuhikuhi i ka maʻi, Kugelberg-Welander. Ma hope o ka hapaha o ka hoʻomanawanui iki mai i hoike i ka Muscle hypertrophy. No laila, ka mea i erroneously e diagnosed me muscular dystrophy, kahi o spinal muscular atrophy. Nā kumu o kēia maʻi i ua hoʻokumu 'ia i ka 1995, ka wā e ua hiki ke kuhikuhi i ka mutated'ōewe SMN. Aneane pau nā mea maʻi homozygous moʻolelo holoi ia lŘlŘ SMN7, wehewehe aku ma ka poho o telomeric elua kope o ka'ōewe, a me ka centromeric kope kōna.

nā kaʻa mokulele o ka lapaʻau

Eia naʻe, spinal muscular atrophy mea he autoimmune maʻi, a e ole e holopono ana e pale i ka ulu ana. Complicating i ke kulana o ka mea i ka mea, aohe kekahi kanaka.

Ma kekahi mau hihia, kauka wale he hiki nō kekahi ke ola, mai kaʻano o nā mea maʻi me ke kōkua o ke physiotherapy. Hoʻoikaika i ko lākou mea e like ai o ke ola ma ka hana i ho'ākāka 'orthopedic nā mīkini home.

E e uku i ka ai ana o ka mea e hoomanawanui i mau noonoo. Mau hoakaka ai 'e hiki ka hoʻoikaika' ana i ka pūnao. Akā, i ka i nā mea a pau e hiki ke hana ina spinal muscular atrophy i ua hookupaa iho la ia. Lapaau ninoieo ma ka hookohu ana o gymnastics. Helu ha awina mea nui no kēia mau hoʻomanawanui iki mai. Ka mea, ua pono i ka mea e hoʻoikaika i ka functioning o nāʻiʻo a me ka hoomahuahua i ko lakou nuipa a. Eia naʻe, pono e pōpilikia e kou kauka i ka haawe. Ma keia hihia, physical hoʻonaʻauao 'ana i ka pono hopena ma luna o ke kino a pau. Kona tonic hopena ua maopopo. Ia hiki e pākōlea paha hygienic kakahiaka gymnastics, me ka i loko o ka wai a me ka pono bracing lomilomi.