natgillin/translations-raw huggingface dataset:
Using these medicines to suppress the immune system may further increase this risk. 
Uporaba zdravil, ki zavirajo delovanje imunskega sistema, lahko to tveganje še dodatno poveča.
The pH of the reconstituted solution is approximately 6.2. 
pH rekonstituirane raztopine je približno 6,2.
Each pack contains 1, 10 or 25 vials. 
Eno pakiranje vsebuje 1, 10 ali 25 vial.
IOPD Immune Tolerance Induction 
Indukcija imunske tolerance pri IOPD
However, high and sustained IgG antibody titres also occur in some CRIM-positive patients. 
Vendar pa se visoki in vzdrževani titri protiteles IgG pojavljajo tudi pri nekaterih CRIM-pozitivnih bolnikih.
Cmax (µg/ml) AUC∞ (µg•h/ml) CL (ml/h/kg) Vss (ml/kg) Effective half-life (h) 
AUC (g•h/ml) klirens CL (ml/h/kg) Vss (ml/kg) efektivna razpolovni čas (h)
It is recommended to start the administration of the diluted solution within three hours. 
Priporočljivo je, da začnete z dajanjem razredčene raztopine v treh urah.
However, chemical and physical in-use stability has been demonstrated for 24 hours at 2 to 8°C when stored under protection from light. 
Vendar je bila dokazana kemična in fizikalna stabilnost za 24 ur pri 2 C do 8 C, če je zdravilo shranjeno v temnem prostoru.
Reconstitution and dilution should be performed in accordance with good practice rules, particularly for the respect of asepsis. 
Rekonstitucijo in redčenje je treba izvesti v skladu s pravili dobre prakse, še posebej zaradi asepse.
Linearity/non linearity Pharmacokinetics were dose proportional and did not change over time. 
Linearnost/nelinearnost Farmakokinetika je bila sorazmerna z odmerkom in se ni spreminjala s časom.
4 Additional adverse reactions from post-marketing, expanded access programs and non-controlled clinical trials. 
4 Dodatni neželeni učinki iz postmarketinških raziskav, programov razširjenega dostopa in nenadzorovanih kliničnih preskušanj.
6-Minute Walk Test Distance (meters) 
razdalja 6 minutnega testa hoje (v metrih)
The marketing authorisation holder (MAH) shall perform the required pharmacovigilance activities and interventions detailed in the agreed RMP presented in Module 1.8.2 of the marketing authorisation and any agreed subsequent updates of the RMP. 
Imetnik dovoljenja za promet z zdravilom bo izvedel zahtevane farmakovigilančne aktivnosti in ukrepe, podrobno opisane v sprejetem RMP, predloženem v modulu 1.8.2 dovoljenja za promet z zdravilom, in vseh nadaljnjih sprejetih posodobitvah RMP
In clinical studies doses up to 40 mg/kg body weight were used. 
V kliničnih študijah so bili uporabljeni odmerki do 40 mg/kg telesne mase.
Each vial of Myozyme is for single use only. 
Vsaka viala zdravila Myozyme je namenjena le enkratni uporabi.
This effect was partly attributable to maternal toxicity, as a significant decrease in feed consumption and body weight gain was observed. 
Navedeni učinek je delno posledica toksičnosti pri breji samici, saj so opazili znatno zmanjšanje uživanja hrane in pridobivanja telesne mase.
The current medical standards for emergency treatment of anaphylactic reactions are to be observed. 
Upoštevati morate veljavne zdravstvene standarde za urgentno zdravljenje anafilaktičnih reakcij.
*One patient who did not have data post baseline was excluded from the analyses. 
*En bolnik brez podatka po izhodišču je bil izključen iz analize.
Note: Results are from a Cox proportional hazards regression analysis which includes treatment as a time-varying covariate, and also includes age of diagnosis and age at symptom onset. 
Opomba: Rezultati so iz Coxove regresijske analize sorazmernih tveganj, ki vključuje zdravljenje kot časovno variirajočo kovariablo in tudi starost diagnoze in starost ob nastopu simptomov.
All patients were freely ambulatory and all but one patient did not require any form of ventilator support (1 patient required nocturnal non-invasive ventilation). 
Vsi bolniki so bili zdravljeni ambulantno in razen enega, nihče ni potreboval kakršnekoli oblike respiracijske pomoči (1 bolnik je potreboval nočno ne-invazivno predihavanje).
In the untreated historical cohort 5 of 47 patients (10.6%) for whom data were available, were alive at age 30 months (2.5 years). 
V nezdravljeni historični kohorti je bilo živih 5 izmed 47 bolnikov (10,6 %), za katere so bili na voljo podatki, pri starosti 30 mesecev (2,5 let).
These three studies with Myozyme (with a follow up of at least 3 years in two studies and a median of 23 months in the other study) suggested stabilisation or improvement of motor function and stabilisation of pulmonary function. 
Te tri študije z zdravilom Myozyme (s sledenjem, ki je trajalo vsaj 3 leta v dveh študijah in mediano 23 mesecev v tretji študiji) kažejo stabilizacijo ali izboljšanje motorične funkcije in stabilizacijo pljučne funkcije.
Instructions for use - reconstitution, dilution and administration 
Navodila za uporabo - rekonstitucija, redčenje in dajanje zdravila
You may need to be given pre-treatment medicines to prevent an allergic reaction (e.g. antihistamines and/or corticosteroids) or to reduce fever (antipyretics). 
Morda boste morali pred zdravljenjem vzeti zdravila za preprečevanje alergijske reakcije (npr. antihistaminike in/ali kortikosteroide) ali za zmanjšanje vročine (antipiretike).
The recommended dosage of Myozyme in children and adolescents is the same as in adults. 
Uporaba pri otrocih in mladostnikih Priporočen odmerek zdravila Myozyme pri otrocih in mladostnikih je enak kot pri odraslih.
SPECIAL PRECAUTIONS FOR DISPOSAL OF UNUSED MEDICINAL PRODUCTS OR WASTE MATERIALS DERIVED FROM SUCH MEDICINAL PRODUCTS, IF APPROPRIATE 
POSEBNI VARNOSTNI UKREPI ZA ODSTRANJEVANJE NEPORABLJENIH ZDRAVIL ALI IZ NJIH NASTALIH ODPADNIH SNOVI, KADAR SO POTREBNI
Pompe disease is a rare, progressive and fatal metabolic myopathy with an estimated global incidence of 1 in 40,000 births. 
Pompejeva bolezen je redka, progresivna in smrtna metabolična miopatija s predvidenim globalnim pojavom 1 primera na 40.000 rojstev.
The objectives of the “Pompe Registry” are to enhance the understanding of Pompe disease and to monitor patients and their response to enzyme replacement therapy over time, with the ultimate goal of improving clinical outcomes for these patients. 
Cilji „Pompejevega registra“ so povečati razumevanje Pompejeve bolezni in spremljati bolnike in njihove odzive na encimsko nadomestno terapijo v daljšem časovnem obdobju s končnim ciljem izboljšave kliničnih rezultatov za te bolnike.
What Myozyme is and what it is used for 
Kaj je zdravilo Myozime in za kaj ga uporabljamo
The safety and efficacy of Myozyme in patients with renal or hepatic impairment have not been evaluated and no specific dose regimen can be recommended for these patients. 
Varnost in učinkovitost zdravila Myozyme pri bolnikih z ledvično ali jetrno okvaro nista ugotovljeni in zanje ne moremo priporočiti posebnega režima odmerjanja.
Subjects in the untreated historical cohort were born in 1993 or later. 
Osebe v nezdravljeni historični kohorti so bile rojene v letu 1993 ali kasneje.
The primary endpoint of the pivotal trial was the proportion of patients who were alive. 
Glavni cilj osrednjega preskušanja je bil delež živih bolnikov.
Alglucosidase alfa may be excreted in breast milk. 
Alglukozidaza alfa se lahko izloča v materino mleko.
Treated Patients 
Zdravljeni bolniki
Medical or healthcare professionals are encouraged to register patients who are diagnosed with Pompe disease at www.PompeRegistry.com. 
Medicinsko ali strokovno zdravstveno osebje je treba spodbujati k vodenju registra bolnikov z diagnozo Pompejeve bolezni dostopen na www.PompeRegistry.com.
Use aseptic technique 
Uporabite aseptično tehniko
After reconstitution, it is recommended to promptly dilute the vials (see below). 
Po rekonstituciji je priporočljivo takoj razredčiti vsebino viale (glejte spodaj).
Benefits of treatment on motor function including the regaining of lost motor skills were observed in some patients. 
Pri nekaterih bolnikih je bilo opaziti koristi zdravljenja motoričnih funkcij, vključno s povrnitvijo izgubljenih motoričnih sposobnosti.
Genzyme Flanders bvba, Cipalstraat 8, 2440 Geel, Belgium Name and address of the manufacturers responsible for batch release Genzyme Ireland Limited, IDA Industrial Park, Old Kilmeaden Road, Waterford, Ireland 
Genzyme Flanders bvba, Cipalstraat 8, 2440 Geel, Belgija Ime in naslov proizvajalcev, odgovornih za sproščanje serije Genzyme Ireland Limited, IDA Industrial Park, Old Kilmeaden Road, Waterford, Irska
Data from a small number of patients with HSAT, with or without inhibitory activity, showed limited ITI treatment effect. 
Podatki majhne skupine bolnikov s HSAT - z inhibicijsko aktivnostjo ali brez nje - kažejo majhen učinek zdravljenja z ITI.
Detailed information on this medicinal product is available on the website of the European Medicines Agency http://www.ema.europa.eu. 
Podrobne informacije o zdravilu so objavljene na spletni strani Evropske agencije za zdravila http://www.ema.europe.eu.
This enzyme helps the body control levels of glycogen (a type of carbohydrate). 
Ta encim pomaga telesu nadzirati raven glikogena (vrste ogljikovega hidrata).
Instructions for proper use 
Navodila za pravilno uporabo
Subjects in the untreated historical cohort were born in 1995 or later. 
Osebe v nezdravljeni historični kohorti so bile rojene v letu 1995 ali kasneje.
There does not appear to be a correlation between the onset of IARs and the time of IgG antibody formation. 
Ni videti, da bi obstajala soodvisnost med nastopom infuzijskih reakcij in časom tvorbe protiteles IgG.
The co-primary efficacy outcome assessments were distance walked (meters) in 6 minutes (6-Minute Walk Test, 6MWT) and FVC (Forced Vital Capacity) % predicted in the sitting position. 
Osnovni dve oceni izida učinkovitosti sta bili prehojena razdalja (v metrih) v 6 minutah (6 minutni test hoje, 6MWT) in predvideni % forsirane vitalne kapacitete (FVC - Forced Vital Capacity) v sedečem položaju.
It was demonstrated that the use of a 0.2 micron in-line filter removes visible particles and does not result in an apparent loss of protein or activity. 
Dokazali so, da se z uporabo 0,2-mikronskega filtra odstranijo vidni delci in ne pride do očitne izgube beljakovin ali aktivnosti.
After dilution, an immediate use is recommended. 
Po redčenju je priporočena takojšnja uporaba.
Due to the small patient population, an adverse reaction reported in 2 patients is classified as common. 
Zaradi majhne populacije bolnikov je neželeni učinek, o katerem so poročali pri 2 bolnikih, opredeljen kot pogost.
Paediatric and older people 
Pediatrični in starejši bolniki:
Because there are no data available on effects in neonates exposed to alglucosidase alfa via breast milk, it is recommended to stop breast-feeding when Myozyme is used. 
Ker ni nobenih podatkov o učinkih na novorojenčke, ki so bili izpostavljeni alglukozidazi alfa prek materinega mleka, priporočamo, da med uporabo zdravila Myozyme mati preneha dojiti.
Because dizziness has been reported as an infusion associated reaction, this may affect the ability to drive and use machines on the day of the infusion. 
Ker so kot o infuzijski reakciji poročali o omotici, lahko ta na dan infuzije vpliva na sposobnost vožnje in upravljanja s stroji.
Echocardiographic indices of cardiomyopathy improved as measured by a decrease in left ventricular mass (LVM). 
Ehokardiografski indeksi kardiomiopatije so se izboljšali, kot je ugotovljeno z upadom mase levega prekata (LVM).
If you experience a reaction like this, you should tell your doctor immediately. 
Če pride do take reakcije, morate nemudoma obvestiti zdravnika.
50 mg of powder in a vial (Type 1 glass) with a stopper (siliconised butyl) and a seal (aluminium) with a flip-off cap (plastic). 
50 mg praška v viali (steklo tipa 1) z zamaškom (silikoniziran butilen) in zaščitnim ovojem (aluminijast) z odstranljivim pokrovčkom (plastičen).
Usually, it is characterised by the presence of sufficient residual GAA activity to preclude the development of cardiomyopathy, however some cardiac involvement has been reported in up to approximately 4% of patients with late-onset Pompe disease. 
Ponavadi je zanjo značilna prisotnost zadostne preostale aktivnosti GAA za preprečitev razvoja kardiomiopatije, vendar je bila pri približno 4 % bolnikov s poznim nastopom Pompejeve bolezni zabeležena srčna prizadetost.
It is noteworthy that a higher proportion of patients with better motor outcomes show stability or improvement in growth parameters (weight), while the large majority of patients, regardless of their motor outcomes or baseline features, show reversal of cardiomyopathy as measured by changes in LVM Z-score. 
Nenavadno je, da je večji delež bolnikov z boljšimi motoričnimi sposobnostmi izkazal stabilnost ali izboljšanje parametrov rasti (telesna masa), medtem ko je velika večina bolnikov, ne glede na motorične sposobnosti ali izhodiščno vrednost, izkazala izboljšanje stanja kardiomiopatije, kot so izmerili s spremembami rezultata LVM Z.
Some of these infusion related side effects were serious or life-threatening. 
Nekateri neželeni učinki, povezani z infundiranjem, so bili hudi ali življenjsko nevarni.
The pulmonary benefits observed in patients included a clinically meaningful improvement in FVC of 35% in one patient, and significant reductions in the number of hours of ventilator support needed in 2 patients. 
Pljučne izboljšave, ki jih je bilo opaziti pri bolnikih, so vključevale klinično pomembne napredke v FVC za 35 % pri enem bolniku in občutno zmanjšanje potrebnega števila ur podpore respiratorja pri 2 bolnikih.
If you have experienced life-threatening allergic (hypersensitive) reactions to alglucosidase alfa or any of the other ingredients of this medicine (listed in section 6) and re-administration of the medicine was not successful. 
Če ste imeli življenjsko nevarne alergijske (preobčutljivostne) reakcije na alglukozidazo alfa ali katero koli sestavino tega zdravila (navedeno v poglavju 6) in če ponovno dajanje zdravila ni bilo uspešno.
Preclinical data did not reveal any significant adverse findings (see section 5.3). 
Predklinični podatki niso pokazali pomembnih neželenih učinkov (glejte poglavje 5.3).
Because you have Pompe disease, there is a risk that you get a severe infection of your airways or lungs. 
Ker imate Pompejevo bolezen, pri vas obstaja tveganje za razvoj resne okužbe dihalnih poti ali pljuč.
After 104 weeks of treatment, 14 of 21 patients (66.7%) were alive and 1 patient was alive but had discontinued from the study. 
Po 104 tednih zdravljenja je bilo živih 14 izmed 21 bolnikov (66,7 %) in 1 bolnik je bil živ, vendar je prenehal s sodelovanjem v študiji.
However, muscle function only improved in wheelchair independent patients and in those with less pronounced muscle weakness. 
Vendar se je funkcija mišic izboljšala le pri bolnikih, ki niso bili odvisni od invalidskega vozička in pri tistih z manj izraženo šibkostjo mišic.
Your doctor should consider the risks and benefits of re-administering Myozyme. 
Vaš zdravnik mora presoditi o koristi in tveganju ponovne uporabe zdravila Myozyme.
Reduction of the infusion rate, temporary interruption of the infusion, or pre-treatment, generally with oral antihistamine and/or antipyretics and/or corticosteroids, has effectively managed most reactions. 
Zmanjšanje hitrosti infuzije, začasna prekinitev infuzije ali predhodno zdravljenje, običajno s peroralnim antihistaminikom in/ali antipiretiki in/ali kortikosteroidi, je učinkovito ublažilo večino reakcij.
Pack sizes of 1, 10 or 25 vials. 
Na voljo je v pakiranjih z 1, 10 ali 25 vialami.
• Swelling and thickening of the skin at infusion site in case of leakage of the product outside blood vessels 
• otekanje in odebeljena koža na mestu infuzije v primeru uhajanja zdravila izven žil
Therefore, these patients should be monitored more closely during administration of Myozyme. 
Zato je treba te bolnike bolj pazljivo spremljati med dajanjem zdravila Myozyme.
IARs may occur at any time during the infusion of Myozyme or generally up to 2 hours after, and are more likely with higher infusion rates. 
Infuzijske reakcije se lahko pojavijo kadarkoli med infuzijo zdravila Myozyme ali običajno do 2 uri kasneje in bolj verjetno pri višjih hitrostih infuzije.
Within each frequency grouping, adverse reactions are presented in order of decreasing seriousness. 
V okviru posamezne skupine pogostnosti so neželeni učinki navedeni po vrstnem redu padajoče resnosti.
Due to the bloodbrain barrier effect and the enzyme's size, uptake of alglucosidase alfa in the central nervous system is unlikely. 
Zaradi učinka krvno-možganske pregrade in velikosti encima je prehod alglukozidaze alfa v osrednji živčni sistem malo verjeten.
Additional efficacy data showed that of 16 patients who were free of invasive-ventilator support at baseline, 7 remained so after 104 weeks of treatment. 
Dodatni podatki o učinkovitosti so pokazali, da je izmed 16 bolnikov, ki so bili brez invazivne podpore respiratorja pri izhodiščni vrednosti, 7 še vedno ostalo brez njega po 104 tednih zdravljenja.
Analyses of efficacy did not reveal meaningful differences between the 2 dose groups with respect to survival, invasive ventilator-free survival, any ventilator-free survival, decrease in LVM, gains in growth parameters and acquisition of motor milestones. 
Analize učinkovitosti niso razkrile pomembnih razlik med skupinama z 2 odmerkoma glede na preživetje, preživetje brez invazivnega predihavanja, katerokoli preživetje brez predihavanja, upad mase levega prekata, izboljšanje parametrov rasti in pridobitev motoričnih sposobnosti.
All 5 patients who were receiving invasive ventilation at baseline continued to require ventilation throughout the study (4 patients survived beyond week 104 and one patient died). 
Vseh 5 bolnikov, ki so prejemali invazivno predihavanje pri izhodiščni vrednosti, je še vedno potrebovalo predihavanje tekom študije (4 bolniki so preživeli preko 104 tednov in en bolnik je umrl).
In two additional open-label clinical trials with Myozyme with a follow-up of 24 months, ten patients with severe late-onset Pompe disease (moderate to severe motor impairment and assisted ventilation) showed a variable response on measures of motor and respiratory functions, mostly in the form of a modest improvement (AGLU03105, AGLU04107). 
V dveh dodatnih odprtih kliničnih preskušanjih z zdravilom Myozyme z obdobjem spremljanja 24 mesecev je deset bolnikov s hudim poznim nastopom Pompejeve bolezni (zmerna do huda motorična okrnjenost in asistirana ventilacija) pokazalo različne odzive na merjenje motorične in respiratorne funkcije, največkrat v obliki zmernega izboljšanja (AGLU03105, AGLU04107).
Wilcoxon-Mann-Whitney Test p-value 
povprečna ± s.d. povprečje preizkus Wilcoxon-MannWhitney p-vrednost
Mean plasma elimination half-life (t1/2) was 2.75 hours for the two dose groups. 
Srednja vrednost razpolovnega časa (t1/2) izločanja iz plazme je bila 2,75 ure v obeh skupinah.
Take care when driving or using any tools or machines shortly after infusion of Myozyme, since you may experience dizziness. 
Vpliv na sposobnost upravljanja vozil in strojev Bodite previdni pri upravljanju orodij ali strojev kmalu po infuziji zdravila Myozyme, ker lahko občutite omotico.
• Inflammation of membrane that covers eyeball and eyelid 
• vnetje membrane, ki pokriva zrklo in veko
3 Reactions reported more frequently in the placebo group than in the Myozyme group in late-onset patients. 
3 O učinkih so poročali bolj pogosto v skupini s placebom kot v skupini z zdravilom Myozyme pri bolnikih s poznim nastopom bolezni.
Survival 
Preživetje
After the first year (64 up to 130 weeks) of treatment LVM further decreased in 8 patients. 
Po prvem letu (64 do 130 tednov) zdravljenja se je vrednost LVM še dodatno znižala pri 8 bolnikih.
The cause of a poor clinical outcome and of developing high and sustained IgG antibody titres is thought to be multi-factorial. 
Domnevajo, da je vzrok za nezadovoljiv klinični izid ter za razvoj visokih in vzdrževanih titrov protiteles IgG skupek več faktorjev.
• Nephrotic Syndrome: swelling of lower limbs, generalized swelling and protein loss in urine 
• nefrotski sindrom: otekanje spodnjih okončin, otekanje po vsem telesu in izguba beljakovin z urinom
Name and address of the manufacturers of the biological active substance Genzyme Corporation 45, 51, 76, 74 and 80 New York Avenue, Framingham, MA 01701, United States 
Genzyme Corporation 45, 51, 74, 76 and 80 New York Avenue, Framingham, MA 01701, Združene države Amerike
After 52 weeks of treatment, 16 of 21 patients (76.2%) treated with Myozyme were alive. 
Po 52 tednih zdravljenja je bilo živih 16 izmed 21 bolnikov (76,2 %), zdravljenih z zdravilom Myozyme.
*Human acid α-glucosidase is produced in Chinese hamster ovary cells (CHO) by recombinant DNA technology. 
*Humana kislina -glukozidaze se pridobiva s tehnologijo rekombinantne DNA iz celične kulture jajčnika kitajskega hrčka (CHO - Chinese Hamster Ovary).
In the above described study in 69 late-onset patients in the Netherlands, Myozyme showed an improvement in muscle strength. 
V zgoraj opisani študiji na Nizozemskem je zdravilo Myozyme pri 69 bolnikih s poznim nastopom bolezni pokazalo izboljšanje moči mišic.
Myozyme contains an artificial enzyme called alglucosidase alfa - this can replace the natural enzyme which is lacking in Pompe disease. 
Zdravilo Myozyme vsebuje umetni encim, ki se imenuje alglukozidaza alfa - nadomesti lahko naravni encim, ki ga primanjkuje pri Pompejevi bolezni.
Determine the number of vials to be reconstituted based on the individual patient's dose regimen (mg/kg) and remove the required vials from the refrigerator in order to allow them to reach room temperature (approximately 30 minutes). 
Število vial za rekonstituiranje določite na podlagi režima odmerjanja za posameznega bolnika (mg/kg), nato potrebne viale vzemite iz hladilnika, da bodo dosegle sobno temperaturo (približno 30 minut).
However, there was no apparent association between inhibition of uptake and the co-primary efficacy endpoints (see section 4.4). 
Vendar pa ni bilo očitne povezave med zaviranjem privzema in prvotnima ocenama izida učinkovitosti (glejte poglavje 4.4).
Patients presented with a constellation of signs and symptoms, primarily respiratory, cardiovascular, edematous and/or cutaneous in nature (see section 4.4). 
Pri bolnikih se je pojavil skupek znakov in simptomov, ki so bili v glavnem respiratornega, kardiovaskularnega, edematoznega in/ali kožnega značaja (glejte poglavje 4.4).
In 12 patients with available data the AUC∞ and Cmax were approximately equivalent to those observed for the 20 mg/kg dose group in the pivotal trial. 
Pri 12 bolnikih z razpoložljivimi podatki sta bila AUC in Cmax približno enakovredna tistim, opaženim pri skupinah, ki so prejemale odmerke 20 mg/kg v osrednji raziskavi.
Younger patients diagnosed and treated early and who received ITI concomitantly to ERT initiation had a trend towards better survival rate than patients treated with similar regimen at a later age. 
Mlajši bolniki, ki so bili diagnosticirani in zdravljeni zgodaj ter so prejemali ITI sočasno z uvedbo encimskega nadomestnega zdravljenja, so imeli trend k boljšemu deležu preživetja kot bolniki, zdravljeni s podobno shemo v poznejši starosti.
Adverse reaction (Preferred Term Level) 
Neželeni učinek (prednostni neželeni učinek)
The reconstituted solution must be further diluted. 
Rekonstituirano raztopino je treba nato razredčiti.
Other medicines and Myozyme 
Druga zdravila in zdravilo Myozyme
The clinical presentation of Pompe disease can be described as a spectrum of disease which ranges from a rapidly-progressing infantile-onset form (onset of symptoms of Pompe disease typically within the first year of life and a very short expected life-span) to a less rapidly-progressing late-onset form. 
Klinično predstavitev Pompejeve bolezni je mogoče opisati kot spekter bolezni, ki sega od hitronapredujoče oblike z zgodnjim nastopom (nastop simptomov Pompejeve bolezni običajno v prvem letu življenja in zelo kratka pričakovana življenjska doba), do manj hitro-napredujoče oblike s poznim nastopom.