II-1
WITH FUTURE IN MIND
Slovene Muscular Dystrophy Association has welcomed the
32nd Annual General Meeting of EAMDA from 26th to 29th
September 2002 in Ljubljana, Slovenia. Within the meeting
the two day scientific Symposium on Biological and Social
Resources for the Advancement of the Quality of Life of
People with Neuromuscular Disorders has been held.
Slovenia has a rich scientific and clinical tradition in the field of
NMD. The knowledge and experience have been gained
through the co-operation between different disciplines and
institutions being medical (Clinical Centre in Ljubljana, Re-
habilitation Institute, Medical Faculty in Ljubljana) or technical
(Jožef Stefan Institute, University in Ljubljana). Co-operation
with technical expertise promises excellent opportunities for
progress in the field of rehabilitation medicine also for people
with NMD. Part of these fast expanding and attractive possi-
bilities was presented at the meeting.
Slovene model of management of people with NMD is, as
we believe, modern and could stand the test of compari-
son with the best practices in the world. Slovenia is a pioneer
in the rehabilitation (restorative neurology) of patients with
NMD. We can be proud of achieved but there is much to be
done.
The path to the cure is long and equipped with many curves
and obstacles but every inch along that way provides new im-
portant discoveries and adds new knowledge. While taking
that route we must not forget the patients with NMD who
need our help here and now. We asked ourselves what has
been found new in science and clinical practise that could be
implemented in the better care for people with NMD.
One may find most of the contributions to the Symposium on
Biological and Social Resources for the Advancement of the
Quality of Life of People with Neuromuscular Disorders in
this supplement of Zdravniški vestnik. We thank all who have
made it possible.
Neuromuscular disorders (NMD) are disease of motor unit
with muscular weakness as predominant and unifying clinical
sign. They can affect people of all age groups. In NMD we
traditionally count hereditary disorders of muscle like muscu-
lar dystrophies and congenital myopathies, disorders of neuro-
muscular junction like myasthenia gravis, disorders of nerves
like hereditary motor and sensory neuropathies, and disorders
of neurones like spinal muscular atrophies. NMD are usually
chronic progressive disorders that can often lead to severe
physical impairment.
NMD are relatively rare. Total number of patients with NMD
in Slovenia (2 000 000 inhabitants) in national register (Centre
for neuromuscular disorders, Neurological clinic, Clinical cen-
tre Ljubljana) does not exceed 1200.
Yet, NMD are important group of diseases. In a way they are a
prototype of genetic disorders. They are also scientific and
clinical challenge. A patient with NMD often needs well orga-
nised and fast responding health service. From general practi-
tioner or neurologist she or he expects to recognise the
disease, from geneticists the proper counselling, from ortho-
paedic surgeon to treat scoliosis, from internal medicine spe-
cialist to recognise and treat myocardiopathy or ventilation
problems and from rehabilitation team to help to provide the
technical aids and address the handicap. Patients with NMD
with their needs and medical problems are continuously test-
ing expertise and organisation of every health system and also
moral values of whole and each society all over the globe.
Therefor, it is no surprise that associations of patients have
been formed early by the patients with NMD to influence the
social milieu especially social, educational and health systems.
Društvo distrofikov Slovenije (Slovene Muscular Dystrophy
Association) has been founded in 1970. Since than it has been
an active promoter of awareness and fight for the rights of
people with disabilities. As a part of the Yugoslav MDA it has
also been an active co-founder of EAMDA (European Asso-
ciation of Muscular Dystrophy Associations).
Aleš Pražnikar
Milan R. Dimitrijevič
ZDRAV VESTN 2004; 73: II-1–2
d10.p65 5.6.2004, 2:531
II-2 ZDRAV VESTN 2004; 73: SUPPL II
Z MISLIMI NA PRIHODNOST
trebami. Bilo je, takrat še najživahnejše društvo v SFRJ, tudi
pobudnik ustanovitve Evropske zveze društev ljudi z ŽMB
(EAMDA).
Šestindvajsetega do devetindvajsetega septembra 2002 je
Društvo distrofikov Slovenije gostilo Dvaintrideseto letno zase-
danje EAMDA-e (32nd Annual General Meeting of EAMDA) v
Ljubljani. V okviru srečanje smo na pobudo Društva distrofi-
kov Slovenije pripravili dvodnevno strokovno srečanje z naslo-
vom Simpozij o bioloških in socialnih virih za izboljšanje
kakovosti življenja ljudi z živčnomišičnimi boleznimi (Sym-
posium on Biological and Social Resources for the Advance-
ment of the Quality of Life of People with Neuromuscular
Disorders).
Slovenija ima bogato tradicijo kliničnega in znanstvenega dela
na področju ŽMB. Znanje in izkušnje smo pridobili tudi v so-
delovanju med različnimi strokami in ustanovami tako medi-
cinskimi (Klinični center, Inštitut Republike Slovenije za reha-
bilitacijo, Medicinska fakulteta) kot tehničnimi (Fakulteta za
elektrotehniko, Inštitut Jožef Stefan). Sodelovanje s tehnični-
mi strokami kaže izredne možnosti napredka. Del teh možnosti
so sodelavci predstavili na srečanju.
Mirno lahko zatrdimo, da je slovenska zasnova obravnave ŽMB
moderna in v vseh pogledih sledi najboljšim modelom v svetu.
Zlasti na področju rehabilitacijske medicine, ki jo temeljimo
na načelih restorativne nevrologije, je Slovenija med pionirji.
Zagotovo pa si želimo boljše organizacijske podpore.
Vsi, zlasti seveda oboleli z ŽMB, željno pričakujemo zdravilo.
Do njega nas vodi zavita pot polna novih odkritij in spoznanj. V
pričakovanju možnosti zdravljenja dednih bolezni pa ne smemo
pozabiti na ljudi z ŽMB, ki potrebujejo pomoč tu in zdaj. Med
pripravami na posvet smo se vprašali, kaj je prinesla znanost
ali klinična praksa novega, kar bi lahko utemeljeno uporabili
na tem področju in tako pomagali ljudem z ŽMB.
Večino prispevkov srečanja Simpozij o bioloških in socialnih
virih za izboljšanje kakovosti življenja ljudi z živčnomišični-
mi boleznimi boste našli v pričujoči posebni številki Zdravni-
škega vestnika.
Živčnomišične bolezni (ŽMB) so bolezni motorične enote.
Njihov prevladujoči in skupni klinični znak je mišična šibkost.
ŽMB prizadenejo vse starostne skupine. V to skupino tradicio-
nalno prištevamo večinoma dedne bolezni mišic, kot so npr.
mišične distrofije in kongenitalne miopatije, bolezni živčno-
mišičnega stika, kot je npr. miastenija gravis, bolezni živcev,
kot so npr. dedne motorične in senzorične polinevropatije, in
nevronopatije, kot je npr. spinalna mišična atrofija. Praviloma
gre za kronične napredujoče bolezni, ki pogosto vodijo do
hude gibalne prizadetosti.
Ljudi s posamezno obliko živčnomišične bolezni je sorazmer-
no malo. Skupno število zabeleženih pacientov v sicer ne-
obveznem registru Centra za živčnomišične bolezni, SPS Nevro-
loška klinika Kliničnega centra v Ljubljani, v Sloveniji ne pre-
sega številke 1200.
Pa vendar gre za pomembno skupino bolezni. ŽMB pred-
stavljajo prototip genetskih bolezni. So znanstven kot klinični
izziv. Pacient z ŽMB pogosto potrebuje organizirano oskrbo
več služb. Tako npr. od splošnega zdravnika in nevrologa
pričakuje, da bosta prepoznala bolezen, od genetika sveto-
vanje, od ortopeda, da bo skušal popraviti skoliozo, od inter-
nista, da bo zdravil miokardiopatijo in restriktivne motnje di-
hanja, ter od fiziatra, da mu bo pomagal z ustreznimi tehnič-
nimi pripomočki in rehabilitacijskimi metodami zmanjšal ovi-
ranost. Potrebe pacientov z ŽMB zato neprestano preverjajo
zdravstveni sistem in celotno družbo po vsem svetu (spomni-
mo se javne polemike o ALS pri nas). Po drugi strani vse bolj
razumemo patološke procese, ki privedejo do izražanja ŽMB,
kot predčasno staranje struktur motorične enote (glej prispe-
vek Vrbove in Hausmanowe v nadaljevanju). Zato upamo, da
bodo znanje in postopki v procesu zdravljenja ŽMB pomemb-
no vplivali tudi na razumevanje staranja in na postopke zdravlje-
nja tegob ljudi v takoimenovani starosti. Problemi ŽMB so
torej pereči raziskovalni problemi sodobne razvojne in mole-
kularne biologije.
Tako ni čudno, da so se ljudje z ŽMB med prvimi povezali v
društva, da bi vplivali na družbeno okolje, zlasti na socialne,
izobraževalne in zdravstvene sisteme. Društvo distrofikov Slo-
venije je bilo ustanovljeno 1971. Vse od takrat je dejavni nosi-
lec ozaveščanja in borbe za pravice ljudi s posebnimi po-
Aleš Pražnikar
Milan R. Dimitrijevič
d10.p65 5.6.2004, 2:532