Loaʻa iā ʻoe kekahi pilikia e hoʻopaʻakikī a nāwaliwali ai kou mau wāwae? E kamaʻilio kākou e pili ana i ka Hereditary Spastic Paraplegia

Ke manaʻo nei ʻoe i kekahi manawa he ʻano wiliwili iki kou mau wāwae ke hele ʻoe, me he mea lā ʻaʻohe ou mana ma luna o lākou? Ke kuʻi nei ʻoe i kahi mea liʻiliʻi a hāʻule, a i ʻole pilikia paha ʻoe i ka hāpai ʻana i kou mau wāwae i ka piʻi ʻana i nā alapiʻi? ʻAʻole paha kēia he mau mea ʻē aʻe wale nō. I kēia lā e kamaʻilio mākou e pili ana i kahi kūlana e hoʻopilikia ai i nā wāwae, he mea paʻakikī iki ia, akā he mea nui loa ia e ʻike. ʻO ia ke kūlana i kapa ʻia ʻo "Hereditary Spastic Paraplegia".

He aha kēia paraplegia spastic hoʻoilina?

I ka ʻōlelo maʻalahi, he hui kēia o nā kūlana i hoʻoilina ʻia . ʻO ke ʻano o "Hoʻoilina" hiki iā ʻoe ke hoʻoilina i ke kūlana ma o nā genes mai kou makuahine, makuakāne, a i ʻole nā ​​​​lālā ʻē aʻe o ka ʻohana. ʻO "Spastic paraplegia" e pili ana i ka ʻoʻoleʻa (`(spasticity)`) a me ka nāwaliwali mālie o nā ʻiʻo i kou mau wāwae . ʻAʻole hiki koke mai kēia mau hōʻailona, ​​​​akā e hoʻonui mālie i ka hala ʻana o ka manawa .

I ka wā mua, hiki paha iā ʻoe ke manaʻo i kahi ʻoluʻolu ʻole i ka wā e hele ana. Hiki paha iā ʻoe ke kuʻi hewa ma luna o kekahi mea a kuʻi paha ma luna o kahi pōhaku liʻiliʻi ma ke alanui. ʻO kēia no ka mea ʻaʻole hiki iā ʻoe ke hāpai pono i kou wāwae. I ka hala ʻana o ka manawa, hiki ke ʻoi aku ka ʻino o kēia kūlana a lilo ka hele wāwae i mea weliweli. Pono paha kekahi poʻe e hoʻohana i ke koʻokoʻo, ka mea hele wāwae, a i ʻole ka noho huila e kōkua iā lākou e hele ma hope o kekahi mau makahiki.

Hiki paha iā ʻoe ke lohe i nā kauka e hoʻohana i nā inoa ʻē aʻe no kēia kūlana i kekahi manawa:

• `(ʻO ka paraparesis spastic ʻohana)`
• `(ʻO ka paraparesis spastic hoʻoilina)`
• ʻO ka maʻi Strümpell-Lorrain

ʻOiai he inoa āu e hāʻawi ai, ʻo ia hoʻi ke ʻano olakino like.

Aia kekahi mau ʻano o ka `(Hereditary Spastic Paraplegia)`?

ʻAe, aia ma mua o 80 mau ʻano o kēia maʻi. Hāʻawi ʻia kēlā me kēia ʻano i kahi helu, e like me `(SPG1)`, `(SPG2)`, ma ke kaʻina i ʻike ʻia ai. Akā ua hoʻokaʻawale nā ​​kauka i kēia mau mea i ʻelua mau pūʻulu nui:

1. ʻAno Maʻalahi (a i ʻole Maʻemaʻe): Ma kahi o 90 pakeneka o ka poʻe me kēia maʻi he ʻano maʻalahi kēia . ʻO nā hōʻailona nui ka ʻoʻoleʻa o nā ʻiʻo (`(spasticity)`) a me ka nāwaliwali o nā wāwae a mākou i kūkākūkā ai ma mua.

2. ʻAno paʻakikī: Loaʻa i ke koena 10 pakeneka kēia ʻano paʻakikī . Ma waho aʻe o ka ʻoʻoleʻa o ka wāwae a me ka nāwaliwali, hiki iā ʻoe ke ʻike i kekahi mau hōʻailona neurological ʻē aʻe e pili ana i kou lolo, ke kaula spinal, a me ka ʻōnaehana nerve .

Pehea ka maʻamau o kēia ʻano?

He mea paʻakikī ke ʻōlelo pololei i ka nui o ka poʻe i loaʻa i ka "Hereditary Spastic Paraplegia". ʻO kēia no ka mea ua like nā hōʻailona me nā maʻi ʻē aʻe , a ua kuhi hewa pinepine ʻia . Manaʻo nā kānaka noiʻi aia ma waena o hoʻokahi (`1`) a me ʻelima (`5`) mau kānaka i kēlā me kēia haneli tausani o ka poʻe ma ka honua holoʻokoʻa e loaʻa paha kēia maʻi.

He aha nā hōʻailona o ka `(Hereditary Spastic Paraplegia)`?

ʻO nā hōʻailona nui ʻelua o kēia maʻi e hoʻopilikia i nā ʻiʻo o kou mau wāwae:

• Ka spasticity
• Nāwaliwali

Eia nō naʻe, ma muli o ke ʻano o ka maʻi, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe.

Nā hiʻohiʻona ʻē aʻe o ke ʻano Uncomplicated:

• Ka maneʻo a i ʻole ka nalowale o ka manaʻo ma nā wāwae, ʻoiai hoʻi nā kapuwaʻi .
• Ka paʻakikī ke kāohi ʻana i ka mimi .
• Ke manaʻo nei i ka pono koke e mimi a e kīhaʻi paha, ʻoiai inā ʻaʻole i piha ka ʻōpū mimi a i ʻole ka naʻau.

Nā ʻano ʻē aʻe o ke ʻano Paʻakikī:

I kēia ʻano, ua ākea loa ka laulā o nā hōʻailona. Eia kekahi laʻana:

• Ka emi ʻana o ka hana noʻonoʻo e like me ka noʻonoʻo a me ka hoʻomanaʻo (dementia) .
• ʻO ka paʻakikī i ka mālama ʻana i ke kaulike a me ka hiki ʻole ke hoʻonohonoho i nā hana (ataxia).
• Nā pilikia maka e like me ka ʻike maka pōwehiwehi, cataracts, optic atrophy, a i ʻole retinopathy.
• Ka nalowale o ka lohe (`(Loiloi o ka lohe)`) .
• Nā pilikia aʻo, ka hemahema o ka ʻike a i ʻole ka lohi o ka ulu ʻana.
• Ka hoʻemi mālie ʻana o ka nui o nā ʻiʻo (`(atrophy)`) .
• Ka hōʻino ʻana i nā aʻalolo ma nā lima a me nā wāwae (peripheral neuropathy) .
• Paʻakikī ka hanu ʻana (dyspnea), paʻakikī ka ʻōlelo ʻana (aphasia), a i ʻole paʻakikī ke ale ʻana (dysphagia) .
• Nā hōʻailona o ka maʻi epilepsy (`(Seizures)`) .
• Hiki i kekahi poʻe ke loaʻa i kahi ʻili mānoanoa a maloʻo e like me nā unahi iʻa (`(ichthyosis vulgaris)`) .

E noʻonoʻo i ka paʻakikī o ka loaʻa ʻana o hoʻokahi a ʻelua paha o kēia mau hōʻailona. No laila, he pilikia nui ka noho ʻana me ka nui o kēia mau hōʻailona.

He aha ke kumu o ka `(Hereditary Spastic Paraplegia)`?

ʻO ke kumu nui o kēia, he loli i loko o nā genes, i kapa ʻia he ʻano genetic . Hoʻomalu ʻia nā hana a pau o ko kākou kino e nā kuhikuhi i loaʻa mai nā genes. Ke loli kēia mau genes, hewa nā kuhikuhi i loaʻa e nā protein . A laila ʻaʻole hiki i kēlā mau protein ke hana pono i kā lākou hana. Hoʻopilikia pololei kēia i ka hana o nā aʻalolo i loko o kou kaula spinal. Hiki i kekahi mau ʻano hoʻololi genetic like ʻole ke hana i kēia maʻi.

ʻO kēia kūlana, i kapa ʻia ʻo "Hereditary Spastic Paraplegia", ua hoʻoilina ʻia . ʻO ke ʻano kēia, pono ʻoe e hoʻoilina i hoʻokahi kope o ka gene no ia mea mai kou mau mākua mai. Aia kekahi mau ala e hiki ai kēia ke hana:

• 'Autosomal dominant': Hana ʻia kēia ke hoʻoilina kekahi o kou mau mākua i ke ʻano.Hoʻomaka ka maʻi ke loaʻa ka gene nona ke kuleana no kēia maʻi.
• 'Autosomal recessive': I kēia hihia, ulu wale ka maʻi inā loaʻa iā ʻoe ka gene mai kou makuahine a me kou makuakāne. Inā loaʻa iā ʻoe mai hoʻokahi makua wale nō, he mea lawe paha ʻoe i ka maʻi, akā ʻaʻole hōʻike i nā hōʻailona.
• `X-linked`: Ma kēia, hoʻoili ka makuahine (makua wahine) i kēia gene i kāna keiki kāne ma o kahi chromosome sex.
• Hoʻoilina Mitochondrial: Ma kēia, hoʻoili ka makuahine i ke kūlana i kāna keiki (me ka nānā ʻole i ke kāne) ma o kahi gene mitochondrial .

ʻOiai he mea kakaikahi, i kekahi manawa hiki ke hana wale ʻia kēia mau loli genetic, ʻo ia hoʻi hiki ke hana ʻia i loko o kahi kanaka hou me ka ʻole o ka mōʻaukala ʻohana (sporadic) .

ʻO wai ka mea i pilikia nui i kēia maʻi?

Hiki i kekahi ke loaʻa i kēia maʻi, i kapa ʻia ʻo "Hereditary Spastic Paraplegia." Eia nō naʻe, inā loaʻa i kekahi a i ʻole ʻelua o kou mau mākua ka mutation gene e pili ana i kēia maʻi, ʻoi aku kou pilikia o ka loaʻa ʻana o kēia maʻi .

He aha nā pilikia e hiki mai ana o kēia maʻi?

Hiki i ka Hereditary Spastic Paraplegia ke hana i kekahi mau hopena ʻē aʻe, e like me:

• ʻEha ma ke kua a me nā kuli.
• Anu mau ke ʻano o nā wāwae.
• Luhi mau ka manaʻo (`(Fatigue)`) .
• Ka hoʻohuli ʻana a me ka hoʻopōkole ʻana i ka lauoho.

ʻO ka noho ʻana me nā pilikia hele wāwae, i ka wā i maʻalahi ai nā mea i maʻa mau i kēia manawa ua paʻakikī, i kekahi manawa he mea weliweli paha, hiki ke loaʻa ka hopena nui i kou olakino noʻonoʻo . Hiki i kēia ke alakaʻi i nā kūlana e like me ke kaumaha a me ke kaumaha . Inā manaʻo ʻoe he nui aku kou mau lā ʻino ma mua o nā lā maikaʻi, mai hilahila e kamaʻilio me kāu kauka e pili ana i ia mea . Hiki iā lākou ke kuhikuhi iā ʻoe i kahi kākāʻōlelo olakino noʻonoʻo e hiki ke kōkua iā ʻoe e hoʻokele pehea e hoʻopilikia ai ke kūlana i kou mau manaʻo.

Pehea e ʻike ʻia ai kēia maʻi `(Hereditary Spastic Paraplegia)`?

E hana ke kauka i kahi hoʻokolohua kino, kahi hoʻokolohua neurological, a me kekahi mau hoʻokolohua kūikawā ʻē aʻe e ʻike ai i kēia maʻi. I loko o kēia mau hoʻokolohua, e nānā pono ke kauka i kāu mau hōʻailona a me kou mōʻaukala olakino a kou ʻohana. E nānā pū ʻo ia i:

• ʻIke i ka hoʻopā ʻana.
• Kaulike o ke kino.
• Ka hoʻonohonoho ʻana o nā hana.
• Hana noʻonoʻo.
• Hana motor (hiki ke neʻe a puni).
• Nā pane hou.

Ma hope o kēia mau mea, inā kānalua ke kauka i ka `(Hereditary Spastic Paraplegia)`, hiki iā ia ke kuhikuhi i kekahi mau hoʻokolohua e like me:

• Electromyography (EMG): Pili kēia i ke kau ʻana i nā nila liʻiliʻi i loko o kou mau ʻiʻo a me ke kākau ʻana i ke ʻano o ka pane ʻana o kou mau aʻalolo i nā hōʻailona uila liʻiliʻi. Hiki i kēia ke hāʻawi iā ʻoe i kahi manaʻo maikaʻi o ke ʻano o ka hana ʻana o kou mau ʻiʻo a me nā aʻalolo .
• Hoʻāʻo ʻana i ka hoʻoilina : Lawe ʻia kahi laʻana o kou koko a i ʻole ka lawai e nānā i nā hoʻololi hoʻoilina e hoʻoulu ai i ka maʻi .
• ʻO ke kiʻi Magnetic Resonance Imaging (MRI): Hoʻohana kēia i nā nalu magnetic, nā nalu lekiō, a me kahi kamepiula e hana i nā kiʻi kikoʻī o nā ʻiʻo o kou lolo a me ke kaula spinal . Hiki iā ia ke hōʻike i nā ʻano ʻē i loko o ka lolo o kekahi poʻe me ka HSP paʻakikī.
• ʻO ke kī ʻana o ka iwi kuamoʻo (Lumbar puncture) : Ma kēia, hoʻokomo ʻia kahi nila lahilahi i loko o kou kua haʻahaʻa a lawe ʻia kahi liʻiliʻi o ka wai cerebrospinal (CSF) mai ka ʻāpana a puni kou lolo a me ke kaula iwi kuamoʻo no ka hoʻāʻo ʻana.

I kekahi manawa hiki ke lōʻihi ka manawa e ʻike pololei ai i kēia maʻi , no ka mea, hiki ke like loa nā hōʻailona o ka `(Hereditary Spastic Paraplegia)` me nā hōʻailona o nā maʻi ʻē aʻe e like me:

• ʻO ka lolo lolo (`(Lolo lolo)`)
• ʻO ka sclerosis lehulehu (`(Sclerosis lehulehu)`)
• ʻO ka maʻi Pelizaeus-Merzbacher
• ʻO ka stenosis spinal (ka hoʻohaiki ʻana o ke kahawai spinal)

Pehea e mālama ʻia ai ka `(Hereditary Spastic Paraplegia)`?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Hereditary Spastic Paraplegia. Eia nō naʻe, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hoʻomaʻalahi iki i ke ola. ʻO kēia mau mea:

• Nā lāʻau lapaʻau: Nā lāʻau lapaʻau e hōʻemi ai i ka ʻoʻoleʻa o nā mākala (nā mea hoʻomaha mākala), nā inikini botulinum toxin, a me ka baclofen.
• Hoʻōla kino : Hoʻomaʻamaʻa e hoʻoikaika i nā ʻiʻo, hoʻonui i ka maʻalahi, a hoʻomaikaʻi i ke kaulike.
• Hoʻōla hana : Ke hoʻolauna nei i ke aʻo ʻana a me nā lako e kōkua iā ʻoe e hana maʻalahi i nā hana o kēlā me kēia lā.
• Nā kākoʻo kāmaʻa kūikawā (Orthotics) : E maʻalahi ka hele wāwae a mālama i ke kūlana kūpono o ka wāwae.
• Nā mea hana e kōkua ai i ka neʻe ʻana: he koʻokoʻo, he mau ʻūmiʻi, he mau pale lima, a he noho huila paha.

Ma muli o ke ʻano o kou mau hōʻailona, ​​​​hiki i kāu kauka ke kuhikuhi i nā lāʻau lapaʻau ʻē aʻe.

Pehea lā ka wā e hiki mai ana no kekahi me ka `(Hereditary Spastic Paraplegia)`?

Pili maoli kēia i ke koʻikoʻi o nā hōʻailona . E like me kā mākou i ʻōlelo ai ma mua, he holomua kēia maʻi. Hiki pinepine ia me ka lohi loa, i loko o kekahi mau makahiki . Hiki i kēia ke alakaʻi i ka nalowale mālie o ka hiki ke hele kūʻokoʻa, a me ka pono no nā mea kōkua neʻe.

Inā loaʻa iā ʻoe nā hōʻailona neurological ʻē aʻe, hiki iā ia ke hoʻopilikia i kou ʻano ola . Pono paha ka poʻe me kēia mau kūlana i ke kōkua a me ke kākoʻo i ko lākou ola a pau.

Ke hoʻopōkole nei anei ka Hereditary Spastic Paraplegia i ka manaʻolana ola?

ʻO ka maʻamau, ʻaʻole kēia maʻi `(Hereditary Spastic Paraplegia)` e hoʻopilikia i kou manaʻolana ola . Eia nō naʻe, i kekahi mau ʻano kikoʻī a paʻakikī o kēia maʻi, hiki ke ʻokoʻa iki ke kūlana. ʻO ke kanaka maikaʻi loa e ʻike e pili ana i kēia, ʻo ia kāu kauka. Hiki iā ia ke wehewehe i ka mea hiki iā ʻoe ke manaʻo ma muli o kou kūlana.

Aia kekahi ala e pale aku ai i kēia maʻi?

ʻAʻohe ala i ʻike ʻia e pale aku ai i ka Hereditary Spastic Paraplegia. ʻOiai he maʻi genetic ia, inā makemake ʻoe e ʻike e pili ana i kou pilikia o ka hoʻomohala ʻana i kēia maʻi a me nā maʻi genetic ʻē aʻe, hiki iā ʻoe ke kamaʻilio me kahi kākāʻōlelo genetic a ʻike e pili ana i ka hoʻāʻo genetic .

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe kēia mau hōʻailona, ​​inā ʻike ʻia lākou e lilo ana i mea ʻino i ka hala ʻana o ka manawa, a inā paha e loaʻa iā ʻoe nā hōʻailona hou, e hōʻoia e hoʻomaopopo i kāu kauka. Hiki iā ia ke hoʻololi i kāu hoʻolālā lapaʻau e like me ka mea e pono ai a kōkua iā ʻoe e hoʻokele i kēia kūlana e ʻoi aʻe ana.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Ke ʻike ʻoe ua loaʻa iā ʻoe a i ʻole kekahi āu i ʻike ai ka `(Hereditary Spastic Paraplegia)`, nui paha nā nīnau i loko o kou manaʻo. Eia kekahi laʻana:

• He aha ke ʻano o ka paraplegia spastic i loaʻa iaʻu?
• He aha ke ʻano o ka lāʻau lapaʻau āu e paipai mai nei iaʻu?
• Aia kekahi mau hopena ʻaoʻao i kēia mau lāʻau lapaʻau?
• Pono anei au e hoʻohana i ke koʻokoʻo, ka mea hele wāwae, a i ʻole ka noho huila?
• He aha nā hana e hiki iaʻu ke hana me ka palekana?

He mea maʻamau ke kaumaha ke aʻo ʻoe e pili ana i kahi maʻi genetic e like me kēia. ʻO nā nīnau e like me "Pehea wau i loaʻa ai kēia?", "Aia kekahi o koʻu ʻohana i loaʻa iā ia?", "E ʻoi aku ka ʻino o koʻu mau hōʻailona?" e hiki mai paha i ka noʻonoʻo. Akā, mai hopohopo. E hele pū ana kāu kauka me ʻoe ma kēia huakaʻi a e pane i kāu mau nīnau a pau.

Hiki i kēia mau hōʻailona ke hoʻomaka i kēlā me kēia makahiki a hiki ke ʻoi aku ka ʻino i ka hala ʻana o ka manawa. I kekahi manawa, ʻoiai nā hana maʻalahi o kēlā me kēia lā, e like me ka hele wāwae ʻana me kāu holoholona a i ʻole ke holo paikikala ʻana, hiki ke lilo i mea paʻakikī. I kekahi mau hihia, hiki ke hoʻoweliweli ka hana ʻana i kēia mau mea. Pono paha ʻoe e aʻo i nā ala hou e hana ai i nā mea e pono ai kou kino, a i ʻole e hoʻolōʻihi i ka manawa hou e pale aku ai i nā pōpilikia. E hāʻawi kāu kauka iā ʻoe i ka ʻōlelo aʻoaʻo i hana kūikawā ʻia iā ʻoe e mālama iā ʻoe i ka palekana a me ke olakino.

## Nā Mea Koʻikoʻi e Hoʻomanaʻo (Leka Lawe-Home)

ʻAe, ke lana nei koʻu manaʻo ua loaʻa iā ʻoe kahi manaʻo maikaʻi aʻe e pili ana i ka `(Hereditary Spastic Paraplegia)` a mākou i kamaʻilio ai.

ʻO ka mea nui loa, ʻo ia ke ʻimi i ke kōkua lapaʻau inā manaʻo ʻoe he mau hōʻailona kēia. Inā ʻike mua ʻia, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a kōkua iā ʻoe e ola i ke ola maʻamau e like me ka hiki.

• E hoʻomanaʻo, ʻaʻole kēia kou hewa . He maʻi hoʻoilina kēia.
• ʻOiai ʻaʻole hiki i ka lāʻau lapaʻau ke ho'ōla loa i ka maʻi, hiki ke mālama ʻia nā hōʻailona .
• ʻO ka hoʻoikaika kino a me ka hoʻoikaika hana ʻelua mau ʻano lapaʻau koʻikoʻi loa no ka poʻe e noho nei me kēia maʻi.
• E mālama pū i kou olakino noʻonoʻo . Mai kānalua e noi i ke kōkua inā pono ʻoe.
• ʻAʻole ʻoe hoʻokahi. Aia nā kauka, nā mea hoʻōla, a me kāu poʻe aloha ma kēia huakaʻi me ʻoe e kōkua iā ʻoe.

Lana ko mākou manaʻo he mea pono kēia ʻike iā ʻoe. E noho olakino!

ʻO ka Paraplegia Spastic Hoʻoilina, ʻoʻoleʻa o ka wāwae, nāwaliwali o ka wāwae, nā maʻi neurological, nā maʻi genetic, nā pilikia hele wāwae