Fęrsluflokkur: Vķsindi og fręši

Opiš bréf til Ban Ki-moon ašalritara Sameinušu žjóšanna

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

 

 

 

 

   

 

   

Opiš bréf til Ban Ki-moon ašalritara Sameinušu žjóšanna.

 

 

Ķslandi, maķ 2015

Excellency, Mr. Ban Ki-moon:

United Nations Secretary-General

UN Headquarters

First Avenue at 46th Street

New York 10017, USA

 

 

Meš žessu bréfi er ķslendska žjóšin įsamt félögum fólks meš taugasjśkdóma og męnuskaša į Ķslandi aš svara įkalli žķnu um nż žróunarmarkmiš Sameinušu žjóšanna um sjįlfbęra žróun sem til stendur aš samžykkja ķ september nęstkomandi. Ķslendska žjóšin žakkar žér afar vel fyrir frumkvęši žitt aš kalla eftir tillögum žjóša og grasrótarinnar aš hugmyndum um nż žróunarmarkmiš.

Žaš er von ķslendsku žjóšarinnar aš Sameinušu žjóširnar svari į jįkvęšan hįtt beišni hennar um aš bęta viš nżju žróunarmarkmiši sem snżr aš auknum rannsóknum į taugakerfi mannslķkamans og lękningu į fjölda taugasjśkdóma og skaša ķ taugakerfinu. Markmišiš er aš finna lękningu į öllum taugasjśkdómum og sköšum ķ taugakerfinu. Meginįstęša žess hve erfišlega gengur aš finna lękningu viš til dęmis męnu- og heilasköšum og taugasjśkdómum er sś aš vķsindasamfélagiš hefur takmarkašan skilning į virkni taugakerfisins. Žaš er žvķ veršugt verkefni fyrir Ķsland aš beita įhrifum sķnum til vitundarvakningar og ašgerša į žessu sviši.

Til fjölda įra hefur Ķsland talaš mįli męnuskašašra į vettvangi Noršurlandarįšs, Alžjóšaheilbrigšisstofnunarinnar (World Health Organization (WHO)) og Sameinušu žjóšanna. Margt hefur įunnist ķ žeirri barrįttu lķkt og norręnt samstarf (višhengi 1), alžjóšlegur upplżsingabanki um męnuskaša (višhengi 2) og žingsįlyktun Alžingis Ķslendinga (višhengi 4).

Sameinušu žjóšunum barst bréf frį Męnuskašastofnun Ķslands (višhengi 5) og frį fastanefnd Ķslands hjį Sameinušu žjóšunum ķ nóvember sķšastlišnum (višhengi 6) žar sem tilkynnt var aš taugakerfiš yrši eitt af fimm įhersluatrišum Ķslands til nęstu žróunarmarkmiša. Sķšan žį hefur fastanefndin freistaš žess aš afla stušnings viš mįliš į vettvangi Sameinušu žjóšanna.

Ķ maķ 2014 samžykkti Alžingi Ķslendinga žingsįlyktun um ašgeršir ķ žįgu lękninga viš męnuskaša. Žingsįlyktunin byggir į tveimur meginatrišum. Ķ fyrsta lagi er kvešiš į um norręnt samstarf um męnuskaša og er sś vinna komin ķ farveg undir merkjum norręnu rįšherranefndarinnar. Ķ öšru lagi er kvešiš į um aš ķslendsk stjórnvöld afli stušnings viš žaš aš einu af žeim žróunarmarkmišum sem Sameinušu žjóširnar setja į žessu įri verši beint aš framförum ķ lękningu sjśkdóma og skaša ķ taugakerfinu. Meš žingsįlyktun žessari hafa ķslendsk stjórnvöld samžykkt aš Ķsland muni tala mįli taugakerfisins į alžjóšavettvangi.

Žaš er einstakt aš žjóšžing skuli taka žį pólitķsku įkvöršun aš tala į alžjóšavķsu ķ žįgu eins lķffęrakerfis, taugakerfisins, sem lķtiš er vitaš um og engin lękning hefur fundist viš. Žaš er von ķslendsku žjóšarinnar aš rödd Alžingis Ķslendinga og rödd taugafélaga į Ķslandi heyrist į vettvangi Sameinušu žjóšanna.

Žaš eru grķšarlega miklir hagsmunir ķ hśfi, félagslega, sišferšilega og efnahagslega. Samkvęmt WHO, er įętlaš aš yfir 1 milljaršur manna um allan heim žjįist af sjśkdómum og skaša ķ taugakerfinu. Ekkert eitt lķffęrakerfi skapar meiri fötlun en taugakerfiš. Auk heila- og męnuskaša er fjöldi tauga- og gešsjśkdóma eins og Alzheimers, heilaskaši vegna heilablóšfalls, flogaveiki, MND, MS, žunglyndi, Parkinson og heilaglöp tengdir taugakerfinu. Samkvęmt WHO er tķšni ofangreindra sjśkdóma aš aukast sem kallar enn frekar į įrķšandi ašgeršir.

Meš įtaki Sameinušu žjóšanna og stušningi alžjóšasamfélagsins er hęgt aš stušla aš žvķ aš gera lękningu aš veruleika. Fįtt kęmi sér žvķ betur fyrir žau hundruš milljóna manna sem nś žjįst um allan heim, og ekki sķšur žį sem žjįst munu ķ framtķšinni af žessum sökum, en aš skilningur verši aukinn į virkni taugakerfisins. Žaš myndi leiša til framfara ķ mešferš og lękningu, minnka andlega og lķkamlega fötlun ķ veröldinni til muna og létta byršum af langveikum, fjölskyldum žeirra og žjóšfélögum, eins og fram kemur ķ skżrslu žinni, ,,Vegurinn til viršingar til 2030 (The Road to Dignity by 2030 ), aš žurfi aš gera.

Ķ skżrslu žinni, Vegurinn til viršingar til 2030 (The Road to Dignity by 2030), kemur vel ķ ljós sį mikli velvilji og viršing sem žś berš fyrir velferš og framtķš mannkynsins, aš allir fįi tękifęri til aš bera höfušiš hįtt, sama hvar ķ žjóšfélagsstiganum žeir standa. Žaš er afar žakkarvert (kafli 70, višhengi 7) aš žś bendir į aš nęstu žróunarmarkmiš žurfi aš taka į langvinnum sjśkdómum, s.s. gešsjśkdómum og öšrum sköšum ķ taugakerfinu įsamt umferšarslysum. Fįir njóta jafn lķtilla mannréttinda og viršingar samborgara sinna og žjóšfélaga og fólk sem bżr viš skert andlegt heilbrigši, lömun eša ašra fötlun į lķkama sķnum. Meš žinni fögru hugsjón hefur žś opnaš leiš fyrir Ķsland til aš knżja į um aš ašildarrķki Sameinušu žjóšanna taki höndum saman og hrindi sameiginlega af stokkunum alžjóšlegu įtaki til aukins skilnings į virkni taugakerfisins.

Ķslendska žjóšin styšur viš hugsjón žķna um betri heim fyrir alla og störf ķslenskra stjórnvalda ķ žįgu taugakerfisins. Žjóšinni er kunnugt um aš komiš hefur fram tillaga žess efnis aš nęstu sjįlfstęšu žróunarmarkmiš verši 17 talsins og undirmarkmišin 169. Ķslendska žjóšin bišur žig vinsamlegast um aš męla fyrir žvķ viš fulltrśa ašildarrķkja Sameinušu žjóšanna aš žęr samžykki aš bęta viš 18. sjįlfstęša žróunarmarkmišinu og aš žaš snśist einvöršungu um aš auka skilning į virkni taugakerfisins.

Ķslendska žjóšin leggur til eftirfarandi:.

1. aš "aukinn skilningur į virkni taugakerfisins" verši samžykkt sem sjįlfstętt žróunarmarkmiš hjį Sameinušu žjóšunum ķ september nęstkomandi.

2. aš ašildaržjóšir Sameinušu žjóšanna samžykki aš leggja ķ sjóš vissa fjįrupphęš įrlega til įrsins 2030. Féš skuli notaš til aš koma į fót alžjóšlegum starfshópi taugavķsindamanna frį višurkenndum hįskólum vķša um heim. Hlutverk starfshópsins verši aš skoša hina stóru mynd alžjóšlegs taugavķsindasvišs, meta stöšuna, koma į samvinnu og veita veglega styrki ķ žeim tilgangi aš nį fram heildarmynd af virkni taugakerfisins.

Tillögur aš rįšstöfunum til aš stušla aš auknum rannsóknum į taugakerfinu:

18.1 Fyrir 2030, fękka um helming žeim sem verša fyrir lömun og skaša į taugakerfinu vegna įverka eša sjśkdóma.

18.2 Fyrir 2020, efla og styšja viš alžjóšlegar vķsindarannsóknir og klķnķskar prófanir til aš auka skilning į taugakerfinu. Stušla aš aukinni alžjóšlegri samvinnu hvaš varšar rannsóknir į taugakerfinu. Kortlagningu į taugakerfinu og virkni žess lokiš.

18.3 Fyrir 2030, fjölga verulega framboši af įrangursrķkum mešferšum fyrir žį sem žjįst af gešröskunum, taugahrörnunasjśkdómum svo sem, MS, MND, Parkinsons og flogaveiki, skemmdum ķ taugakerfinu svo sem heila og męnuskaša vegna slysa.

Meš žakklęti og von aš leišarljósi,

Męnuskašastofnun Ķslands.

SEM, samtök endurhęfšra męnuskaddašra.

MS-félagiš.

MND félag Ķslands

Lauf, félag flogaveikra.

Heilaheill.

Gešhjįlp.

Parkinsonsamtökin į Ķslandi.

 

 

Višhengi:

1. Norręnt samstarf um męnuskaša (RMS).

2. Upplżsingabanki um męnuskaša.

3. Human Spinal Cord Injury: New & Emerging Therapies.

4. Žingsįlyktun um ašgeršir ķ žįgu lękningar viš męnuskaša.

5. Bréf til Ban Ki-moon frį Męnuskašastofnun Ķslands frį nóvember 2014.

6. Bréf frį Fastanefnd Ķslands til Sameinušu žjóšanna frį nóvember 2014.

7. Kafli 70 ķ skżrslunni ,,Vegurinn til viršingar til 2030  (The Road to Dignity by 2030).

 

 


Aš standa upp eftir byltu getur veriš erfitt, eša ómögulegt !

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Aš standa upp eftir byltu getur veriš erfitt, eša ómögulegt !

Fyrst birt 17. október 2014.

       

Žaš er óžęgileg reynsla aš detta, en ekki sķšur er slęmt aš geta ekki stašiš upp aftur. Viš žetta vandamįl glķma margir meš skerta hreyfigetu, vegna sjśkdóms eša af öšrum įstęšum. Ég hef sjįlfur af žessu nokkura įra reynslu Smile

Ķ myndbandinu hér fyrir nešan, sżnir Rhonda Bonecutter 10 ašferšir viš aš standa upp eftir byltu. Hvort žś getur notfęrt žér einhverja žessara ašferša er aušvitaš hįš žķnum ašstęšum. Ķ heild sżna žessar ašferšir aš ekki er įstęša til aš gefast upp, žótt ašstęšur viršist vonlausar.  

Mitt rįš er, aš nęrst žegar žś liggur afvelta į gólfinu, hugsir žś til myndbandsins hennar Rhondu og veltir fyrir žér žeim kostum sem žś įtt ķ stöšunni. Vonandi dettur žér eitthvaš  śrręši ķ hug, sem bjargar žér śr klķpunni.

Loftur Altice Žorsteinsson.

 

 

  Klappašu myndinni til aš sjį myndbandiš 
   
  How to get up from the floor 

  


Rannsóknarklasi ķ hreyfitauga sjśkdómum er ekki lengur fjarlęg draumsżn

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Rannsóknarklasi ķ hreyfitauga sjśkdómum er ekki lengur fjarlęg draumsżn.

Birtist fyrst ķ Morgunblašinu 09. október 2014.

       

Loftur Altice Žorsteinsson.

Į Alžingi er nśna til mešferšar tillaga til žingsįlyktunar, um aukna aškomu rķkisvaldsins aš rannsóknum į hreyfitauga sjśkdómum (MND, MS, Parkinson og fl.). Flutningsmašur er Sigrśn Magnśsdóttir, žingsflokksformašur Framsóknarflokks og viš framlagningu tillögunnar lżstu žingmennirnir Valgeršur Bjarnadóttir og Jóhanna Marķa Sigmundsdóttir, yfir eindregnum stušningi viš auknar rannsóknir į žessu sviši. Allsherjar- og menntamįlanefnd hefur mįliš til umfjöllunar, en tillaga Sigrśnar er eftirfarandi:

»Alžingi įlyktar aš fela rķkisstjórninni aš beita sér fyrir stofnun rannsóknarklasa į sviši taugavķsinda og taugahrörnunarsjśkdóma į Ķslandi, svo sem į sviši ALS/MND-sjśkdómsins. Rķkisstjórnin hlutist til um aš vķsindasamfélagiš į Ķslandi fįi naušsynlega ašstoš viš aš afla styrkja til aš fjįrmagna rannsóknir į taugasjśkdómum, einnig frį alžjóšasamfélaginu«.

Ķsland er kjöriš til rannsókna į erfšasjśkdómum.

Hreyfitaugar nefnast žęr frumur sem annast stjórn allra vöšva lķkamans. Žessa vöšva er ekki bara aš finna ķ śtlimum, heldur einnig innvortis og žeirra į mešal er žind og raddbönd. Žess vegna missa MND-sjśklingar ekki bara mįtt ķ höndum og fótum, heldur einnig ķ öndunarfęrum og raddböndin verša gagnslaus. Žrįtt fyrir aš um 150 įr eru lišin frį žvķ aš Jean-Martin Charcot (1825-1893) skilgreindi MND sem sérstakan sjśkdóm, er ennžį ekki vitaš hvaš veldur honum. Skiptar skošanir eru til dęmis um, aš hvé miklu leyti MND er erfšasjśkdómur, en rannsóknir į vegum Alžjóšlegrar mišstöšvar MND-rannsókna benda til aš hérlendis sé MND bundiš erfšum og aš erfšamynstriš sé »vķkjandi«.

Į sķšustu įratugum hafa oršiš stórstķgar framfarir ķ erfšafręši, sem hafa opnaš augu manna fyrir žeirri stašreynd aš fjölmargir sjśkdómar eru bundnir erfšum. Af nokkrum įstęšum er Ķsland kjöriš til rannsókna į erfšasjśkdómum. Ķ fyrsta lagi er hér mögulegt aš rekja ęttir langt aftur ķ tķmann. Ķ öšru lagi hefur Ķsland öldum saman veriš meira einangraš en žekkist um mörg önnur lönd. Ķ žrišja lagi veldur fįmenni žvķ aš ekki er śtilokaš, aš nį til allra meš įkvešinn sjśkdóm hjį heilli žjóš.  Sérstaša Ķslands veitir tękifęri, sem ekki mį lįta ónotuš.

Ķsland hefur skyldum aš gegna viš umheiminn, į sviši rannsókna į sjśkdómum. Nęr allar ašferšir, sem hér er beitt viš greiningu sjśkdóma og lękningu žeirra, eru komnar frį öšrum žjóšum. Ekki er sišferšilega rétt aš Ķsland verši įfram eingöngu žiggjandi į sviši lękninga, sérstaklega žegar fyrir liggur aš hérlendis eru ašstęšur góšar til įkvešinna rannsókna. Rķkisvaldinu ber einnig skylda til aš veita landsmönnum lęknisžjónustu og žaš į sérstaklega viš um banvęna sjśkdóma eins og MND. Fram aš žessu hafa valdamenn į Ķslandi tališ sęmandi, aš leggja ekkert opinbert fjįrmagn til MND-rannsókna. Meš tillögu-flutningi Sigrśnar Magnśsdóttur į Alžingi hyllir loks undir breytingar.

Rannsóknarklasi ķ hreyfitauga sjśkdómum er ekki ósanngjörn krafa.

Hugmyndin um rannsóknarklasa fyrir hreyfitauga sjśkdóma į sér fyrirmyndir hérlendis og er ķ samręmi viš stefnu stjórnvalda um skipulag vķsindarannsókna ķ landinu. Sem dęmi mį nefna, aš 2009 hlaut  »Alžjóšlegur rannsóknarklasi ķ jaršhita« styrk frį rķkinu sem nam 490 milljónum króna. Į nśverandi veršlagi samsvarar žessi upphęš um 600 milljónum króna. Tillaga Sigrśnar gerir ekki rįš fyrir svona rausnarlegu framlagi til Rannsóknarklasa ķ hreyfitauga sjśkdómum, en vel er hęgt aš reikna meš aš erlend framlög kunni aš verša af žessari stęršargrįšu.

Fólk um allan heim gerir žį kröfu, aš framfarir verši sjįanlegar į sviši hreyfitauga sjśkdóma og sérstaklega gildir žetta um MND, sem aš undanförnu hefur notiš mikillar athygli. Framlög einstaklinga til MND-rannsókna hafa stórlega aukist og til aš leggja įheršslu į alvarleika mįlsins hika menn ekki viš aš žola »ķskalt sturtubaš«.

Söfnunar-reikningur Mišstöšvar MND-rannsókna er: 0515-14-409909-561112.0960           og vefsetur félagsins er: http://midstodin.blog.is/blog/midstodin/.

Jafnan žegar MND-fólk kemur saman, rķkir ķ hópnum glašvęrš og ęšruleysi. Oft er heilbrigšiskerfiš til umręšu og ķ eftirfarandi dęmisögu er žvķ lķkt viš »heilagt stöšuvatn«, sem veitir flestum lękningu og öllum nokkura śrlausn:

»Žrķr sjśklingar leitušu lękningar hjį Hinu heilaga vatni og fyrstur til aš vaša śtķ var blindur mašur. Žegar hann kom śr kafinu, hafši hann fengiš fulla sjón. Nęrsti sjśklingur til aš leita įsjįr Hins heilaga vatns var heyrnarlaus. Žegar hann kom aftur į žurrt land hafši hann hlotiš fulla heyrn. Žrišji sjśklingurinn var MND-sjśklingur. Eftir aš hafa séš žau kraftaverk sem Hiš heilaga vatn hafši veitt blindum og heyrnarlausum, ók hann vongóšur ķ hjólastól sķnum śt ķ vatniš og hikaši ekki viš aš fara į bóla-kaf. Žegar hann kom aftur į žurrt land blasti įrangurinn viš sjónum. Hjólastóllinn hafši fengiš nżgja og glansandi hjólbarša«.

  


Rannsóknir sżna aš MND į Ķslandi er arfgengur sjśkdómur

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Rannsóknir sżna aš MND į Ķslandi er arfgengur sjśkdómur.

Birtist fyrst ķ Morgunblašinu 02. október 2014.

       

Loftur Altice Žorsteinsson. 

Telja mį öruggt, aš nokkur hundruš nślifandi Ķslendinga muni falla fyrir MND-sjśkdómnum. Eins og flestir vita er MND ólęknandi sjśkdómur, sem veldur vöšvalömun og fjölmörgum öšrum erfišum einkennum. Ķ nęr öllum tilvikum hrakar MND-sjśklingum meš tķmanum og aš mešaltali er ęfilengd MND-sjśklinga um 15 įrum styttri en annara landsmanna.

Leitin aš orsökum MND er rétt aš hefjast.

Žótt MND hafi lengi veriš meš mannkyni og lķklega frį upphafi, er ennžį ekki vitaš af hverju sjśkdómurinn stafar. Žetta birtist lķklega bezt ķ žeirri stašreynd, aš į heimsvķsu eru 90-95% MND-tilvika talin vera tilfallandi. Nęr öll tilvik sjśkdómsins eru žvķ talin stafa af óžekktum įstęšum, ekki ólķkt žvķ sem gilti um lśsina sem fyrir nokkrum öldum var talin kvikna af sjįlfu sér.

Erfitt er aš rannsaka sjśkdóma sem stafa af óžekktum įstęšum og žess vegna beinast rannsóknir į MND aš žeim 5-10% tilvika sem talin eru stafa af arfgengum breytingum ķ genum sjśklinganna – vera erfšasjśkdómar. Lķffręšingar og ašrir sem fįst viš žessar rannsóknir reyna aš finna breytingar ķ genum žeirra sjśklinga sem eiga nįkomna ęttingja meš MND og mönnum hefur oršiš nokkuš įgengt.

Eitt žeirra atriša viš MND sem lengi hefur legiš fyrir og vekur furšu, er aš enginn munur greinist į sjśkdóms-einkennum fólks meš ęttgengt MND og tilfallandi. Žetta kann aš stafa af žvķ, aš raunverulega sé um erfšasjśkdóm aš ręša, en erfšagallinn sé einungis ófundinn. Stašreyndin er sś, aš smįtt og smįtt eru menn aš finna óžekkta gena-galla hjį sjśklingum sem taldir hafa veriš meš tilfallandi MND. Hlutfall ęttgengra tilvika er žvķ smįtt og smįtt aš aukast.

Rannsóknir į MND eru hafnar hérlendis.

Ķ heiminum hafa aš minnsta kosti 16 gen fundist sem viršast tengjast MND, en lengra hefur leitinni ekki mišaš. Menn eru raunverulega ķ sömu sporum og fyrir 20 įrum, žegar MND var fyrst tengt breytingu ķ geni sem nefnt er SOD1. Fyrir 10-15 įrum sķšan voru geršar gena-rannsóknir hérlendis, af Peter Munch Andersen viš hįskólann ķ Umeå, sem leiddu ķ ljós stökkbreytingu ķ žessu geni hjį nokkrum MND-sjśklingum og nefnist hśn SOD1-G93S. Aš auki fannst žessi breyting hjį fólki sem engin MND-einkenni hefur haft. Engar ašrar MND-tengdar gena-breytingar hafa veriš greindar hérlendis og auk Ķslands hefur SOD1-G93S einungis fundist ķ Japan.

Žaš er til marks um įhugaleysi hérlendra stjórnvalda į MND-rannsóknum, aš Svķarnir sem fundu SOD1-G93S hafa enga hvatningu fengiš til aš birta nišurstöšur sķnar. Hérlendis liggja einnig ónotuš tęki, sem gagnast gętu til aš greina SOD1-G93S. Žannig var staša mįla haustiš 2013, žegar į vegum félagsins  »Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum« (Mišstöšin) var hafin rannsókn į erfšatengslum MND-sjśklinga į Ķslandi. Vefsetur: http://midstodin.blog.is/blog/midstodin/.

Erlendis hafa menn komist aš žeirri stašreynd, aš kynja-hlutfall fólks meš MND er mismunandi eftir žvķ hvort um er aš ręša tilfallandi MND eša ęttgengt. Hjį žeim sem eru meš tilfallandi MND er kynja-hlutfalliš allt aš 60:40 (karlar:konur), en žegar um er aš ręša ęttgengt MND er kynja-hlutfalliš 50:50. Rannsókn Mišstöšvarinnar leiddi ķ ljós aš hérlendis er kynja-hlutfalliš nįkvęmlega 50:50 og samkvęmt žvķ er MND į Ķslandi arfgengur sjśkdómur.

Allir MND-sjśklingar į Ķslandi eiga sameiginlegan forföšur.

Rannsókn Mišstöšvarinnar leiddi ķ ljós, aš allir MND-sjśklingar į Ķslandi eiga sameinlegan forföšur, sem fęddist um 1500. Žar sem breytingin SOD1-G93S er afar fįtķš, mį ętla aš allir žeir sem bera breytta geniš hafi fengiš žaš ķ arf. Viš įframhaldandi rannsóknir fekkst sś óvęnta nišurstaša, aš bįšir foreldrar nęr allra MND-sjśklinganna eru einnig afkomendur sama ęttföšur.

Auk žess sem telja veršur sannaš, aš MND į Ķslandi er arfgengur sjśkdómur, benda nišurstöšurnar eindregiš til žess aš erfša-mynstur MND ķ landinu sé »vķkjandi«. Žetta er algjörlega į skjön viš žaš sem tališ hefur veriš, meš hlišsjón af nišurstöšum śr erlendum rannsóknum. Žessi nišurstaša hefur afgerandi įhrif viš leit aš MND-genum. Jafnframt liggur fyrir aš į Ķslandi eru einstakar ašstęšur til rannsókna į MND.

Leitaš er eftir stušningi landsmanna, viš MND-rannsóknir.

»Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum« er hugsjónafélag, sem stofnaš var 08. nóvember 2012. Fram aš žessu hafa rannsóknir félagsins veriš fjįrmagnašar meš framlögum einstaklinga, en bęši rķkisvaldiš og stęrstu fyrirtęki landsins hafa haldiš aš sér höndum. Framundan eru kostnašarsamar rannsóknir sem ekki veršur unnt aš fjįrmagna nema meš öflugu įtaki allra landsmanna.

Vķša um heim hefur »ķskalt sturtubaš« reynst fólki öflugur hvati til aš styšja MND-rannsóknir. Viš erum ekki į móti »ķsköldu sturtubaši«, en hvaša žvottavenjur sem menn hafa tamiš sér, treystum viš į stušning landsmanna. Söfnunar-reikningur MND-rannsókna er: 0515-14-409909-561112.0960.

  


Žingsįlyktun vęntanleg um stušning viš MND-rannsóknir.

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Žingsįlyktun vęntanleg um stušning viš MND-rannsóknir.

Birtist fyrst 24. september 2014.

       

Į Alžingi hefur Sigrśn Magnśsdóttir formašur žingflokks Framsóknarflokks lagt fram tillögu til žingsįlyktunar, sem kann aš marka tķmamót ķ sögu MND-rannsókna į Ķslandi. Fram aš žessu hefur hiš opinbera sżnt fullkomiš skilningsleysi į MND-rannsóknum og žeirri sérstöšu sem Ķsland hefur til aš nį įrangri į sviši erfšasjśkdóma, žar meš talinna sjśkdóma ķ hreyfitaugum. Vonandi sjį MND-sjśklingar og ašstandendur žeirra fram į bjartari tķma.

Ég vil skora į alla sem styšja MND-rannsóknir, aš fylgja dyggilega eftir žvķ losverša framtaki Sigrśnar Magnśsdóttur, aš kalla Alžingi til lišs viš MND-rannsóknir į Ķslandi. Lįtiš fulltrśa okkar į Alžingi og ašra landsmenn vita af eindregnum stušningi ykkar viš aš žingmenn samžykki tillögu Sigrśnar.

Loftur Altice Žorsteinsson.

<<<<>>>><><<<<>>>> 

144. löggjafaržing 2014–2015. Žingskjal 24  —  24. mįl.

Tillaga til žingsįlyktunar

um rannsóknarklasa į sviši taugavķsinda og taugahrörnunarsjśkdóma.

Flm.: Sigrśn Magnśsdóttir.


Alžingi įlyktar aš fela rķkisstjórninni aš beita sér fyrir stofnun rannsóknarklasa į sviši taugavķsinda og taugahrörnunarsjśkdóma į Ķslandi, svo sem į sviši ALS/MND-sjśkdómsins. Rķkisstjórnin hlutist til um aš vķsindasamfélagiš į Ķslandi fįi naušsynlega ašstoš viš aš afla styrkja til aš fjįrmagna rannsóknir į taugasjśkdómum, einnig frį alžjóšasamfélaginu.

Greinargerš.

Ķsland hentar sérstaklega vel sem mišstöš rannsókna į sviši taugavķsinda žar sem žjóšin er fįmenn, ęttartengsl ljósari en hjį flestum öšrum žjóšum og veruleg vķsindažekking er til stašar.

Rannsóknum į taugasjśkdómum hefur fleygt mjög fram į allra sķšustu įrum og gefa taugavķsindamenn vonir um lękningar į żmsum hrörnunarsjśkdómum sem hrjį mannkyniš. Nż tękni og framfarir ķ rannsóknum į stofnfrumum gefur von um lękningu į göllušum heilafrumum.

Um allan heim beinist athygli manna um žessar mundir aš hinum banvęna hreyfitaugungahrörnunarsjśkdómi ALS/MND. Mikill fjöldi fólks er reišubśinn aš leggja barįttunni gegn sjśkdómnum liš. Telja veršur žvķ lķklegt aš nś sé lag til aš śtvega alžjóšlegt fjįrmagn til eflingar rannsókna hér į landi, t.d. į ęttgengi sjśkdómsins. Ašrir taugasjśkdómar, eins og MS, alzheimersjśkdómur og parkinsonsjśkdómur yršu vitaskuld einnig rannsakašir. 

Ķ stefnuyfirlżsingu rķkisstjórnarinnar er lögš įhersla į aš efla rannsóknar- og žróunarstarf ķ landinu. Žį fellur tillagan mjög vel aš stefnu og ašgeršaįętlun Vķsinda- og tęknirįšs 2014– 2016. Fyrsti kafli hennar fjallar um sókn og veršmętasköpun. Undirkaflar 1.9, 1.10 og 1.11 fjalla um įrangursrķka alžjóšlega sókn, aš efla sókn ķ samkeppnissjóši og markaši į alžjóšlegum vettvangi, auka stušning og rįšgjöf viš nżsköpunarfyrirtęki sem stefna į alžjóšlegan markaš og mótun ašgeršaįętlunar um žįtttöku Ķslands ķ alžjóšlegum rannsóknarįętlunum, einkum žar sem fjįrmagna žarf ķslendska žįtttöku meš opinberu framlagi.

Į Ķslandi er starfandi öflugt félag įhugamanna um MND-sjśkdóminn. Rannsóknir hér į landi hafa leitt ķ ljós ašra hegšun sjśkdómsins į Ķslandi en t.d. annars stašar į Noršurlöndum. Žetta er mjög athyglisvert. Loftur Altice Žorsteinsson sendi öllum žingmönnum tölvupóst 20. įgśst sl. žar sem hann skoraši į žingmenn aš veita rannsóknum į MND-sjśkdómnum lišsinni, ekki sķst vegna fyrrnefndrar sérstöšu Ķslands. Ķ žessu samhengi fer įgętlega į žvķ aš benda į aš Kįri Stefįnsson, stofnandi Ķslenskrar erfšagreiningar, hlaut nżveriš višurkenningu bandarķsku Alzheimerssamtakanna fyrir rannsóknir į alzheimersjśkdómnum. Sś višurkenning er vitnisburšur žess aš hér į landi er aš finna dżrmęta žekkingu og reynslu į sviši rannsókna į taugasjśkdómum.

Einstakt tękifęri er til aš efla vķsindastarf į Ķslandi. Ķslendskt samfélag bżr yfir ótrślega mörgum tękifęrum til veršmętasköpunar žrįtt fyrir smęš sķna. Viš žurfum aš nżta žau tękifęri sem okkur standa til boša ķ samvinnu viš öfluga alžjóšlega samstarfsašila. Aš grķpa žessi tękifęri mun ekki ašeins fęra okkur efnahagslegan įbata heldur hvetja okkur til aš leggja okkar af mörkum viš lausn žeirra įskorana sem mannkyniš stendur frammi fyrir.

Mikilvęgt er aš tillaga žessi hljóti almennan stušning į Alžingi og samžykkt hennar hafi ķ för meš sér aš komiš verši į fót metnašarfullum rannsóknarklasa sem geri okkur betur ķ stakk bśin til aš rįša gįturnar aš baki taugasjśkdómum eins og ALS/MND, MS o.fl.

  


Söfnunarreikningur MND-rannsókna

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

 

       

  
 Alžjóšleg mišstöš MND-rannsókna 
 
 žakkar kęrlega fyrir framlög til rannsókna į MND-sjśkdómnum. 
 
 Upplżsingar um söfnunarreikning okkar eru hér: 
 
Banki:0515
Höfušbók:14
Reikningsnśmer:409909
Kennitala:561112-0960
 
 
Vķša um heim hefur »ķskalt sturtubaš« (ALS Ice Bucket Challenge) reynst fólki öflugur hvati til aš styšja MND-rannsóknir. 
 

Viš erum ekki į móti »ķsköldu sturtubaši«

InLove  enda er žaš örugglega žęgilegra en MND  InLove 

 

Viš skorum hins vegar į alla landsmenn, aš styšja MND-rannsóknir meš fjįrframlögum, óhįš hvernig žvottavenjur menn hafa tamiš sér.

 
 
 

  


Persónuvernd: Bréf til Ķslendskrar erfšagreiningar vegna söfnunar lķfsżna.

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

Persónuvernd: Bréf til Ķslendskrar erfšagreiningar vegna söfnunar lķfsżna.

Fyrst birt hjį Persónuvernd 15.05.2014.

    



Efni: Söfnun lķfsżna frį einstaklingum sem bošin er žįtttaka ķ samanburšarhópi vegna erfšarannsókna.

Persónuvernd vķsar til fundar stofnunarinnar meš fulltrśum Ķslendskrar erfšagreiningar ehf. 13. maķ sl. žar sem rędd var framkvęmd viš söfnun lķfssżna frį einstaklingum sem bošin er žįtttaka ķ samanburšarhópi vegna erfšarannsókna į vegum fyrirtękisins. Žį var mįliš rętt į fundi stjórnar Persónuverndar sem haldinn var sama dag.

Fyrir liggur aš kynningarbęklingur var sendur stórum hluta landsmanna įsamt samžykkisyfirlżsingu og bśnaši til sżnatöku. Žį liggur fyrir aš ķ beinu framhaldi af žvķ gengu björgunarsveitarmenn ķ hśs til aš safna sżnum frį einstaklingum sem veitt höfšu samžykki sitt.

Į bls. 1 ķ kynningarbęklingnum segir aš umrędd söfnun lķfsżna „hafi hlotiš leyfi Vķsindasišanefndar og Persónuverndar“. Af žvķ tilefni skal tekiš fram aš söfnunin sem slķk hefur ekki hlotiš sérstakt leyfi frį Persónuvernd, enda er hśn ekki hįš slķku leyfi frį stofnuninni ef hśn byggist į upplżstu samžykki žįtttakenda, sbr. 7. tölul. 4. gr. reglna nr. 712/2008 um tilkynningarskylda og leyfisskylda vinnslu persónuupplżsinga. Į hinn bóginn hefur Persónuvernd eftirlit meš žvķ samkvęmt įkvęšum laga nr. 77/2000 um persónuvernd og mešferš persónuupplżsinga hvernig framkvęmd er hįttaš viš öflun lķfsżna og upplżsts samžykkis fyrir vinnslu persónuupplżsinga vegna vķsindarannsókna.

Komiš hefur fram aš mjög skammur tķmi leiš, jafnvel örfįir dagar, frį žvķ aš umręddur kynningarbęklingur barst einstaklingi į heimili hans žar til komiš var aš sękja samžykkisyfirlżsingu og lķfsżni. Stofnunin bendir į aš viš öflun upplżsts samžykkis til vinnslu viškvęmra persónuupplżsinga ķ žįgu vķsindastarfs veršur aš huga aš žvķ aš viškomandi einstaklingar hafi nęgt rįšrśm til aš kynna sér vandlega samžykkisgögn sem ķ žessu tilviki eru mjög ķtarleg. Ķ žessu sambandi mį benda į 3. gr. reglna nr. 170/2001 um žaš hvernig afla skal upplżsts samžykkis fyrir vinnslu persónuupplżsinga  ķ vķsindarannsókn į heilbrigšissviši. Segir žar aš žegar vilji žįtttakenda ķ vķsindarannsókn sem hafa veriš valdir śr Žjóšskrį er kannašur bréflega og višeigandi upplżsingar hafa veriš sendar um rannsóknina, skuli aš minnsta kosti ein vika lķša žar til sent er annaš bréf eša haft samband sķmleišis til aš ķtreka boš um žįtttöku.

Persónuvernd bendir į aš ęskilegt hefši veriš aš lengri tķmi liši frį sendingu samžykkisgagna žar til söfnun lķfsżna hófst. Hins vegar telur stofnunin aš einnig verša aš lķta til žess aš óvenjumikil žjóšfélagsumręša hefur įtt sér staš um žessa lķfsżnasöfnun. Ętla veršur ķ ljósi žeirrar umręšu aš žeim sem ritušu undir samžykki viš framkvęmd söfnunarinnar hafi gefist sérstakt tilefni til aš ķhuga hvort žeir vilji aš samžykkiš standi eša vilji nżta sér rétt sinn til aš draga žaš til baka, en ķtarlegar leišbeiningar fylgdu bęklingnum um afturköllun samžykkis. Ķ ljósi žess telur Persónuvernd, eins og į stendur, aš ekki sé tilefni til sérstakra ašgerša ķ tengslum viš umžóttunartķma umręddra einstaklinga.

Aš lokum skal tekiš fram aš hér er um įbendingu aš ręša varšandi framkvęmd söfnunarinnar en ekki endanlega śrlausn um öll žau įlitaefni sem į getur reynt ķ tengslum viš gildi umręddra yfirlżsinga um samžykki, en žau geta eftir atvikum fremur heyrt undir vķsindasišanefnd en Persónuvernd. Žį er męlst til žess aš framvegis verši žess gętt aš einstaklingum, sem bošin er žįtttaka ķ vķsindarannsóknum į vegum Ķslenskrar erfšagreiningar ehf. og samstarfsašila, verši įvallt meš skżrum hętti veittur kostur į lįgmarks umžóttunartķma. Er žess óskaš aš félagiš sendi Persónuvernd tillögur žar aš lśtandi eigi sķšar en 11. jśnķ nk.

    

Therapy Slows Onset and Progression of ALS (Amyotrophic Lateral Sclerosis)

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

Therapy Slows Onset and Progression of ALS (Amyotrophiv Lateral Sclerosis.

Fyrst birt 09.09.2013 hjį Nationwidw Children's Hospital.

    

 

Studies of a therapy designed to treat amyotrophic lateral sclerosis (ALS) suggest that the treatment dramatically slows onset and progression of the deadly disease, one of the most common neuromuscular disorders in the world. The researchers, led by teams from The Research Institute at Nationwide Children’s Hospital and the Ludwig Institute at the University of California, San Diego, found a survival increase of up to 39 percent in animal models with a one-time treatment, a crucial step toward moving the therapy into human clinical trials.

The therapy reduces expression of a gene called SOD1, which in some cases of familial ALS has a mutation that weakens and kills nerve cells called motor neurons that control muscle movement. While many drug studies involve only one type of animal model, this effort included analysis in two different models treated before and after disease onset. The in-depth study could vault the drug into human clinical trials, said Brian Kaspar, PhD, a principal investigator in the Center for Gene Therapy at Nationwide Children’s and a senior author on the research, which was published online Sept. 6 in Molecular Therapy.

“We designed these rigorous studies using two different models of the disease with the experimenters blinded to the treatment and in two separate laboratories,” said Dr. Kaspar, who collaborated on the study with a team led by Don Cleveland, PhD, at the University of California, San Diego. “We were very pleased with the results, and found that the delivery approach was successful in a larger species, enabling us to initiate a clinical translational plan for this horrible disease.”

There currently is no cure for ALS, also called Lou Gehrig’s disease. The Centers for Disease Control and Prevention estimates there are about 5,000 new cases in the U.S. each year, mostly in people age 50 to 60. Although the exact cause of ALS is unknown, more than 170 mutations in the SOD1 gene have been found in many patients with familial ALS, which accounts for about 2 percent of all cases.

SOD1 provides instructions for making an enzyme called superoxide dismutase, which is found throughout the body and breaks down toxic molecules that can be damaging to cells. When mutated, the SOD1 gene yields a faulty version of the enzyme that is especially harmful to motor neurons. One of the mutations, which is found in about half of all familial ALS patients, is particularly devastating, with death usually coming within 18 months of diagnosis. SOD1 has also been implicated in other types of ALS, called sporadic ALS, which means the therapy could prove beneficial for larger numbers of patients suffering with this disease.

Earlier work by Dr. Kaspar and others found that they could halt production of the mutated enzyme by blocking SOD1 expression, which in turn, they suspected, would slow ALS progression. To test this hypothesis, the researchers would not only need to come up with an approach that would block the gene, but also figure out how to specifically target cells implicated in the disease, which include motor neurons and glial cells. What’s more, the therapy would preferably be administered noninvasively instead of direct delivery via burr holes drilled into the skull.

Dr. Kaspar’s team accomplished the second part of this challenge in 2009, when they discovered that adeno-associated virus serotype 9 (AAV9) could cross the blood-brain barrier, making it an ideal transport system for delivering genes and RNA interference strategies designed to treat disease.

In this new work, funded by the National Institutes of Health, the researchers blocked human SOD1, using a technology known as short hairpin RNA, or shRNA. These single strands of RNA are designed in the lab to seek out specific sequences found in the human SOD1 gene, latch onto them and block gene expression.

In one of the mouse models used in the study, ALS develops earlier and advances more quickly. In the other, the disease develops later and progresses more slowly. All of the mice received a single injection of AAV9-SOD1-shRNA before or after disease onset.

Results showed that in the rapid-disease-progressing model, mice treated before disease onset saw a  39 percent increase in survival compared to control treated mice. Strikingly, in mice treated at 21 days of age, disease progression was slowed by 66 percent. Perhaps more surprising was the finding that even after symptoms surfaced in these models, treatment still resulted in a 23 percent increase in survival  and a 36 percent reduction in disease progression. In the slower-disease-onset model, treatment extended survival by 22 percent and delayed disease progression by 38 percent.

“The extension of survival is fantastic, and the fact that we delayed disease progression in both models when treated at disease onset is what drives our excitement to advance this work to human clinical trials,” said Kevin Foust, PhD, co-first author on the manuscript and an assistant professor in neurosciences at The Ohio State University College of Medicine.

In addition to the potential therapeutic benefit, the study also offers some interesting insights into the biological underpinnings of ALS. The role of motor neurons in ALS has been well documented, but this study also highlighted another key player—astrocytes, the most abundant cell type in the human brain and supporters of neuronal function.

“Recent work from our collaborator Dr. Cleveland has demonstrated that astrocytes and other types of glia are as important if not more important in ALS, as they really drive disease progression,” said Dr. Kaspar. “Indeed, in looking at data from mice, more than 50 percent of astrocytes were targeted throughout the spinal cord by this gene-delivery approach

Ideally, a therapy would hit motor neurons and astrocytes equally hard. The best way to do that is to deliver the drug directly into the cerebrospinal fluid (CSF), which would reduce the amount of SOD1 suppression in cells outside the brain and reduce immune system exposure to AAV9—elements that would add weight to an argument for studying the drug in humans.

Injections directly into CSF cannot be done easily in mice, so the team took the study a crucial step further by injecting AAV9-SOD1-shRNA into the CSF of healthy nonhuman primates. The results were just as the team hoped—the amount of gene expression dropped by as much as 90 percent in motor neurons and nearly 70 percent in astrocytes and no side effects were reported, laying the groundwork towards moving to human clinical trials.

“We have a vast amount of work to do to move this toward a clinical trial, but we’re encouraged by the results to date and our team at Nationwide Children’s and our outstanding collaborators are fully committed to making a difference in this disease,” Dr. Kaspar said.

The findings could impact other studies underway in Dr. Kaspar’s lab, including research on Spinal Muscular Atrophy, an often fatal genetic disease in infants and children that can cause profoundly weakened muscles in the arms and legs and respiratory failure.

“This research provides further proof of targeting motor neurons and glial cells throughout the entire spinal cord for treatment of Spinal Muscular Atrophy and other degenerative diseases of the brain and spinal cord, through a less invasive manner than direct injections,” said Dr. Kaspar, who also is an associate professor of pediatrics and neurosciences at The Ohio State University College of Medicine.

 


Swelling of feet and legs - vandamįl margra MND sjśklinga

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

Swelling of feet and legs - vandamįl margra MND sjśklinga.

Fyrst birt hjį Diane Huberty.

    

Diane Huberty.

Note: Although the information here is useful for anyone with swollen feet, it is intended for people with an ongoing problem with swelling of feet and legs due to being unable to walk.  If this is not your situation, please consult your doctor to determine the cause and treatment of your swelling. If there is swelling or puffiness of your fingers or around your eyes, see your doctor promptly.

The Cause of the Swelling.

The heart pumps blood through the arteries under high pressure. As the arteries branch out into smaller arteries and then into tiny capillaries, pressure decreases. Oxygen is removed from the blood in the capillaries and then the "used" blood flows into veins for the trip back to the lungs for another load of oxygen. Unfortunately, the pressure generated by the heartbeat has been lost by then and the blood relies on simple back pressure to move back up to the heart. This is aided by muscle activity. Ordinary muscle movement "squeezes" the veins and pushes the blood along. The veins have little one-way valves all along the way that keep blood from draining backward as it is pushed upwards.

When muscle movement is lost, it becomes much harder to get the blood back up from the legs. It pools in the veins and causes them to get distended. Water seeps from distended veins out into the surrounding tissue and your legs and feet swell (edema). With repeated episodes of swelling, the little veins become damaged and leaky so that water seeps into the tissues even more easily. At the same time, the valves are collapsing under the heavy weight of all that blood that is pooled on top of them. That damage to the valves is permanent. Without the valves, the blood pools in the feet even worse than before and remaining valves are under even more pressure and more likely to fail.

Treatments.

Doctors aren't very good about helping with swelling. The first thing they will say is to put your legs up to minimize the swelling but they don't tell you how to do that effectively. They will offer prescriptions for TED hose (somewhat helpful) and "water pills" (which should be used as a last resort only).

The first thing to look at is the chairs you sit in.  A recliner may seem like the ideal way to keep your feet up and swelling down but it is NOT! There are two big problems with most recliners. First, the footrest section is made in such a way that all the weight of your legs rests on the calves. That is really bad for circulation. Second, putting your feet up - even way, way up - without "unfolding" at the hips is very minimally helpful, possibly even detrimental, as that bend interferes with the already difficult job of moving blood upward to your heart. Lift chairs are wonderful and most of them are recliners, but if you spend most of your time in a recliner, I strongly recommend that you bring the footrest up only when you lower the backrest.

Whether you sit in a regular chair, recliner, or a wheel chair, it must be properly fitted to you. You need to make sure that your leg to floor/footrest distance is short enough that there is minimal pressure at the back of the lower thigh and knee. Having your feet "dangle" is a sure-fire way to cause swelling!  Put a box/platform under your feet (an old hard side suitcase worked great for me - lightweight and had a handle) or raise your footrest an inch or so. The objective is to make certain there is minimal pressure on the back of your knees/thighs. If you add a ROHO or other cushion you need to adjust your platform/footrest  upward to make up for the height of the cushion.

The fastest and easiest way to reduce swelling is to spend most of the night with your feet elevated. A hospital bed or adjustable bed makes elevating your feet easier, but adding pillows is cheaper. Remember that the point is to get your feet up as high as your heart, not your knees. A hospital bed actually lifts your knees so an extra pillow or two under your feet is needed.

Sleeping with your feet and head up defeats the purpose. (And sleeping sitting up is going to cause a bedsore on your tail bone. Also, your lungs need a change from a sitting position. Lying flat and turning from side to side moves the secretions in your lungs around and makes them easier to cough out and keeps your lungs healthier.) With the onset of breathing problems, this will make breathing more difficult. This is the time when when BiPAP has to be used. For many people this is big step in accepting the fact that living with ALS requires adaptations in order to be comfortable.

The best treatment for leg swelling that I have found is something that I discovered entirely by accident: More time in bed. When my husband was working, I spent about seven hours in bed at night and then would lie back in my recliner for another two or three hours in the afternoon. Even with that, my legs were swollen by noon, miserably uncomfortable by evening and absolutely painful by bedtime. When my husband retired, I was able to go to bed at the usual time, listen to books on tape for an hour or two, and then sleep late in the morning. Instead of spending 10 hours lying with my feet up in two separate sessions, I began spending 10 hours or more in bed all at one stretch. Within a matter of days after starting this routine, I noticed that the swelling was minimal. Now I don't even have to lie down in the afternoon in order to be comfortable in the evening! I don't know if this is due to spending more time lying down at one stretch, spending all my lying down time in a bed rather than a recliner, getting more sleep, or some combination of the three. All I know is that in this has made an incredible difference for me. Not only has it made my problems with swelling minimal, I feel better in general.

Another thing that helps is muscle activity. Granny's old rocking chair served a real purpose beside putting babies to sleep! I find that the swelling is minimized on days when I am most active. (Interpret that as days when I am frequently hauled in and out of my chair and forced to stagger a few steps, whining all the way!) I guess I have some muscles left in my legs, even though I sure can't feel 'em!  Even passive range of motion exercises help.

Keep cool. A few minutes of being too warm, toasting my feet by the fire,or just sitting in the summer sun is all it takes to turn my feet into balloons. (Blood vessels dilate when we are warm.) Simply keeping my legs in the shade makes a difference, but  I have also been known to pour cold water over my feet on hot days when I need to be outside.  Wet socks and tennis shoes are still more comfortable than that miserable burning sensation of swollen feet!

Sometimes I also have problems with a burning sensation in my feet in bed at night. It doesn't start until my feet began to warm up. It can get really bad in the middle of the night if I have the electric blanket on and my feet get really warm. That is a real nuisance because the rest of my body gets really chilled and I can't move at all if I pile on extra blankets. So, in cold weather I end up sleeping with the electric blanket on, but my feet sticking out!

For some people, this burning pain becomes severe and doesn't seem to be relieved by getting the swelling down.  This might be the end result of long term or severe swelling. Some people find that aspirin (not tylenol) helps. Do not take aspirin if you are on anticoagulants (medications to thin the blood). If burning pain is felt when swelling has not been a problem, discuss it with your neurologist.

Limiting salt intake used to be high on the list of things to do to minimize swelling, and your doctor may suggest it, but the need for that is questioned these days. I guess it is enough to say don't over-indulge with salty foods.

Hospitals often use devices to improve blood flow to the feet of patients who are going to be stuck in bed for a while in order to  reduce the risk of blood clots. TED (elastic or compression) stockings are by far the most common. By simply  squeezing the legs and feet a little, they help keep the veins from getting distended.  You can ask your doctor for a prescription for these stockings to get insurance to pay, or buy them at a drug store, or quite cheaply on eBay. Unless you have strong hands and arms, you will need help getting them on.

Hospitals also use types of "boots" that inflate and deflate to help pump the blood along. One study showed that simple alternating pressure on the soles of the feet greatly improves flow, so some brands of boots simply apply waves of pressure to the bottom of the foot. With help from your doctor you may be able to get your insurance to cover the cost of this equipment. It is not complicated to use, but you must be very careful to make sure that it is not rubbing anywhere and causing breakdown of the skin.

If you complain about swollen ankles and feet to your doctor, odds are he will whip out the old prescription pad and put you on diuretics. I have real reservations about this because many of us are borderline dehydrated half the time anyway. (Another contributing factor for the development of blood clots.) It gets hard to reach a drink, or hard to swallow, or it is simply too hard to get to the bathroom so we don't drink as much as we should. Diuretics cause your kidneys to remove more water from your blood stream. The "thicker" blood is then able to "sponge up" more water on its travels through the body so it does reduce the edema. It does nothing about the cause of the edema -- poor blood flow – however. Using diuretics for swollen legs is kind of like taking a diuretic to lose weight - sure it "works", but it doesn't really solve the problem.

I certainly won't say diuretics should never be used -- if nothing else works well enough to keep the swelling under control, they need to be used because the swelling further damages the veins and valves and the situation just gets worse. But all the things described above should be implemented first before diuretics are even considered.


Clinical Spectrum of Motor Neuron Disorders

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

 

Clinical Spectrum of Motor Neuron Disorders.

Fyrst birt hjį American Academy of Neurology ķ febrśar 2009.

 

  

Richard J. Barohn.

Abstract: The differential diagnosis of amyotrophic lateral sclerosis (ALS) includes a number of acquired or inherited disorders causing degeneration of lower and/or upper motor neurons. It is important to consider these diagnoses in the appropriate clinical context because the prognosis is often better, and, in certain situations, specific treatments may be available. Many of the inherited motor neuron syndromes have characteristic clinical presentations that facilitate their recognition. Alternatively, features of the clinical presentation may be atypical for ALS, which should lead to investigation of alternative diagnoses. This chapter will review the clinical features of motor neuron syndromes that comprise the differential diagnosis of ALS and will provide guidelines for their diagnostic investigation.

Key Points:

  • Motor neuron disease is characterized by degeneration of upper motor neurons (UMNs) (corticospinal tract), lower motor neurons (LMNs) (anterior horn cells and cranial nerve motor nuclei), or both. ALS, in which patients have both anterior horn cell and corticospinal tract dysfunction, is the most common form of motor neuron disease.

  • Progressive muscular atrophy, primary lateral sclerosis (PLS), and progressive bulbar palsy are motor neuron disorders in which the degeneration is limited to the LMNs, UMNs, and bulbar musculature, respectively. The differential diagnosis, clinical course, and prognosis are distinct for these motor neuron disease syndromes compared with ALS, making their recognition clinically important.

  • The El Escorial criteria classify ALS into definite, probable, clinically possible, and clinically probable categories based on the number of body regions with clinical findings of UMN and LMN dysfunction.

  • In patients with suspected ALS who have multisegmental UMN and LMN findings and a progressive course, without significant sensory or sphincter abnormalities, further laboratory studies are unlikely to yield an alternative diagnosis.

  • In patients with suspected ALS and a typical clinical presentation, laboratory studies to exclude other diagnostic possibilities may be very limited. More extensive laboratory testing should be reserved for more atypical presentations-pure UMN or LMN syndromes, disease of early onset or prolonged duration, evidence of a coexistent systemic illness, or the presence of sensory or urinary symptoms.

  • In typical ALS presentations, the yield of a lumbar puncture for CSF examination is low. CSF evaluation is reserved for patients in whom meningeal inflammatory or infiltrative disease is suspected clinically.

  • All patients with MND should undergo EMG and nerve conduction studies. The purpose of electrophysiologic testing is to confirm the presence of a multisegmental motor axonopathy and to search for evidence of an alternative diagnosis.

  • A clinical diagnosis of ALS is supported by evidence of denervation (LMN dysfunction) on needle EMG in at least two of the following regions: brainstem (bulbar/cranial motor neurons), cervical, thoracic, or lumbosacral spinal cord.

  • MRI of the brain and/or spinal cord is done to look for evidence of a tumor, syrinx, herniated cervical spinal disk, or cervical spondylosis with spinal cord compression. Cervical MRI is particularly important in patients with limb disease and no bulbar findings to exclude cervical radiculomyelopathy.

  • Muscle biopsy is rarely necessary in most cases of ALS but may be considered if there is a suspicion of myopathy based on clinical or EMG findings.

  • The clinical manifestations of PLS include adult onset, progressive leg weakness and spasticity, spastic bulbar palsy, and hyperreflexia without sensory signs. Spastic weakness may progress asymmetrically.

  • Bulbar symptoms in PLS usually manifest first as dysarthria, followed by dysphagia, and may evolve to emotional lability and inappropriate laughing or crying (pseudobulbar affect). Dysarthria can progress to anarthria.

  • Other reported clinical features in patients with PLS include eye movement abnormalities, urinary dysfunction, and cognitive impairment.

  • PLS tends to follow a very slowly progressive course, a key distinguishing it from ALS. Whereas the average life expectancy for patients with ALS is about 3 years, longevity data for PLS are incomplete. Among PLS patients with reported deaths, survival reports range from 1 to 15 years after onset.

  • Needle EMG findings in PLS should show no evidence of LMN dysfunction. However, recently reported series and criteria allow for electrophysiologic evidence of mild denervation manifest as occasional fibrillations and increased insertional activity in a few muscles.

  • The hereditary spastic paraplegias merit particular consideration in the differential diagnosis of patients presenting with progressive spastic limb weakness. The absence of family history, typical onset in middle age or later life, and bulbar involvement would make this possibility less likely.

  • For patients with progressive purely UMN symptoms acquired in middle age or later, the two main diseases to consider are ALS and PLS. ALS is more common and is usually the ultimate diagnosis.

  • The distinction between an immunemediated neuropathy, such as multifocal motor neuropathy, and motor neuron disease can usually be readily made on the basis of a thorough history and neurologic examination and supported by electrophysiologic studies.

  • Patients with an idiopathic purely LMN disorder are typically referred to as having progressive muscular atrophy (PMA). A significant proportion of patients with PMA actually have ALS and just lack clinical evidence of UMN involvement.

  • PMA comprises approximately 10% of patients with motor neuron disease, being slightly more common in men, with an earlier mean age of onset. Patients receiving the diagnosis of PMA represent a mixed group: patients who have ALS but lack clinical features of UMN involvement as well as patients with a purely LMN disorder (more favorable prognosis).

  • In adult-onset spinal muscular atrophy, patients typically present with symmetric proximal or generalized weakness and fasciculations, with sparing of the bulbar and respiratory muscles. Inheritance may be either autosomal dominant or recessive.

  • X-linked bulbospinal neuronopathy (Kennedy disease) presents with a limb-girdle distribution of muscle weakness and bulbar symptoms with onset typically in the fourth or fifth decade of life. Distinguishing clinical features include facial/perioral fasciculations, gynecomastia, hyporeflexia, hand tremor, and tongue atrophy with a characteristic midline furrow.

  • Monomelic amyotrophy is a rare disorder in which motor neuron degeneration is limited to a single or several myotomes (usually C5 to T1) within a single extremity. Progression usually occurs for 1 to 3 years followed by disease stability. The mean age of onset is typically 20 to 35 years with a male predominance.

  • "Flail arm syndrome" is an MND regional variant consisting of weakness exclusively confined to the upper extremities. Average survival is approximately 5 years, compared with 3 years for patients with ALS.

  • In the flail arm syndrome clinical phenotype, if weakness remains confined to the arms for at least 18 months, usually no clinically significant progression outside of the upper extremities occurs and survival is quite prolonged.

 

 


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