Klinik, biologi, forskning - Om ALS 2014 - Johannes Mörtsell, Stensele, Västerbotten, juni 1887
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Om ALS 2014
Klinik, biologi, forskning
Peter Munch Andersen
Professor, overlege, med. dr.
Umeå Universitet
SE-901 85 Umeå
Sverige
Email:
Peter.Andersen@
neuro.umu.se
Johannes Mörtsell,
Stensele, Västerbotten, juni 1887
Om ALS: Epidemiologi
• Global (Mao Tse-tung, Dmitrij Sjostakovitch, David Niven, Lou Gehrig, Maj
Fant, Ulla-Carin Lindquist, Håkan Sundin, Stephen Hawking)
• Risiko for ALS under en livstid:
>1:400 for mænd, >1:600 for kvinder
• Incidens:
2,5-3,1 per 100 000 og år
(= antal nye pasienter/år)
(>halvdelen af MS).
• Prevalens:
6-8 per 100 000.
(= totale antal pasienter i en befolkning på 100 000)
• Danmark ≈ 115 nye pasienter per år (pasientregister findes ikke)
• Finland ≈ 120 nye pasienter per år (pasientregister findes ej)
• Island ≈ 7-9 pasienter per år (pasientregister findes)
• Norge ≈ 90-100 nye pasienter og år (pasientregister findes ikke)
• Sverige > 220 nye pasienter per år (pasientregister findes ikke)
• USA ≈ 5300 nye pasienter/år
• I vestverden findes ≈ 38 000 ALS pasienter i livet.
Motor cortex
Sulcus Centralis
Det Motoriske Nervesystem
ALS
Parietallob
Spastisk forlammelse
Frontallob
Storhjärnan
(Cerebrum)
Letudløste dybe senereflexer
Occipitallob
Babinski’s tegn
Temporallob
1:a motor neuronets axon Lillhjärnan
Klonus tegn
(Cerebellum)
Hjärnstammen
Skelettmuskel i huvudet (Truncus encefalicus)
halsen eller svalget, t ex:
tungmuskulaturen
Foramen Magnum
Slap forlammelse
2:a motor neuronets axon
Muskelsvind
Svage dybe senereflexer
Muskelrykninger
synaps mellan 2:a
Ryggmärgen
(Medulla spinalis)
motorneuronets axon och
skelettmuskel
Skelettmuskel i en
extremitet, t ex
m biceps brachii
alfa-motor neuron
i framhornen
ALS
PMA 2000 01 18
Amyotrofisk Lateral Skleros
(ALS)
Ved ALS dør de motoriske nerveceller (motornevronen) i:
Hjernen
Hjernestammen, og
Rygmarvens ydre deler (laterala del),
og erstattes af bindevæv (sklerose)
Muskler som ikke får impulser/signaler fra
nervesystemet svinder (atrofi)
og bliver svage (paretiske)
Trophos betyder ”nutrisjon/næring” (= impulser fra nervesystemet)
Myos betyder muskler
A = noget som mangler
Om ALS: Symptomer • Kardinalsymptom er: Muskelsvaghed (pares) Muskelsvind (atrofi) Muskelrykninger (fascikulationer) • Som progredierer uden pause • Kardinaltegn er: Progredierande: 1:a motornevrontegn 2:a motornevrontegn Bevarad sensorik* Bevarad intellekt*
Om ALS: Diagnosen
• Det findes inget specifikt ”ALS-prøve”.
• Diagnosen er en exklusjonsdiagnos:
Undersøge pasienten for alle sykdommer (46 stk.) med samme symptombillede!
• 1. Anamnesen: Initial asymmetrisk fokal pares med muskelsvind,
evt. fascikulationer (kan mangle). Symptomen øger med tiden!
2. EMG (spontanaktivitet, store enheder, polyfasi osv.)
3. Neurografi (oftest normal)
4. Blodprøve analyser
5. Evt. Cerebrospinal vædske analyser
6. DNA analyser ved familjær ALS (FALS)
Fejldiagnostik er desverre ikke sjælden:
falsk positiv: 5-8% i studier fra Irland og U.S.A.
falsk negativ: 35-43% i flere studier fra Skotland, Ireland, New Jersey
Middeltid fra 1. symptom til diagnosen: 13-16 måneder.Table 1.2: Recommended investigations:
Evidence recommended recommended
Clinical Chemistry Test class mandatory additional tests in
tests selected cases
Blood erythrocyte sedimentation rate IV x
C-reactive protein (CRP) IV x
haematological screen IV x
ASAT, ALAT, LDH IV x
TSH, FT4, FT3 hormone assays IV x
vitamins B12 and folate IV x
serum protein electrophoresis IV x
serum immunoelectrophoresis IV x
creatine kinase (CK) IV x
creatinine IV x
electroclytes (Na+,K+,Cl-,Ca2+,HPO4--) IV x
glucose IV x
angiotensin converting enzyme (ACE) IV x
lactate IV x
hexoaminidase A and B assay IV x
ganglioside GM-1 antibodies IV x
anti-Hu, anti-MAG IV x
RA, ANA, anti-DNA IV x
anti-AChR, anti-MuSK antibodies IV x
serology (Borrelia, virus including HIV) IV x
DNA analysis (for details see Figure 6.1) IV x
CSF cell count IV x
cytology IV x
total protein concentration IV x
glucose, lactate IV x
protein electrophoresis including IgG index IV x
serology (Borrelia, virus) IV x
ganglioside antibodies IV x
Urine Cadmium IV x
Lead (24 hour secretion) IV x
Mercury IV x
Manganese IV x
urine immunoelectrophoresis IV x
Neurophysiology EMG III x
Nerve conduction velocity III x
MEP IV x
Radiology MRI/CAT (head/cervical, thoracic, lumbar) IV x
Chest X-ray IV x
Mammography IV x
Biopsy Muscle III x
Nerve IV x
Bone Marrow IV x
Lymph node IV xkortikal magnetisk stimulering af
1:a motorneuronsystem i
hjernebarken
(“MEP”, Magnetisk Evoked Potential)
1. Motornevron
(UMN)
Registrerings-nål i
en arm muskel
EMG
(ElektroMyoGrafi)
2. Motornevron
(LMN)Primary motor neuron diseases & motor neuronopathies
Heriditary Spastic Paraplegia
46 differential diagnoser
Hirayama's Disease
SpinoBulbar Muscular Atrophy (SBMA)
Konzo
Lathyrism
til ALS…….
Lower Motor Neuron Syndromes I-III (LMN) with or without GM1 antibodies
Monomelic motor neuron disease (benign focal amyotrophy)
Metabolic and immunological disorders
Diabetic "amyotrophy"
Hexosaminodase A/B defiency (Adult GM2 Gangliosidosis)
Hyperparathyroidism
Hyperthyroid myopathy
Monoclonal gammopathy with proximal motor axonopathy
myopati
Multifocal Motor Neuropathy (MMN)
Myasthenia gravis
Myopathies, especially polymyositis and inclusion body myositis
Polyglucosan body disease
Sarcoidosis (with myositis)
Malignant neoplasm
Hodgkin's and non-Hodgkin's lymphoma (paraneoplastic MND)
Infectious (transmissible) causes
AIDS (with vacuolar myelopathy)
Brucellosis
Cat-scratch disease
Creutzfeldt-Jakob's Disease (amyotrophic form)
Herpes zoster myelitis (Coxsackie virus infection as well?)
HTLV-1 (Tropical spastic paraplegia)
Neuroborreliosis (Lyme's Disease)
Neurosyphilis
Post-infection Syndromes (especially the post-polio syndrome)
Exogenous intoxications
Aluminium, arsenic, cadmium, lead, manganese, mercury
Vascular disorders
Ischemic injury to spinal cord without sensory signs
Vasculitis
System degenerations
Joseph-Machado disease
Multiple System Atrophy
Olivo ponto cerebellar atrophy (OPCA's)
Shy Drager syndrome
spinalstenosis
Spinocerebellar degeneration
Compression of the spinal cord
Cervical, foraman magnum or posterior fosa region tumors
Chiari I malformation
Spondylotic myeloradiculopathy
Cervical synovial cysts
Herniation of intervertebral dics
Antecedent physical injury
Post electric shock
Post irradiation therapy
Others:
Syringomyelia
Cramp-fasciculation syndrome
EmphysemaFeildiagnose er desverre ikke sjelden
Hos nevrologspecialist har 5-8 av pasientene en alternativ diagnose
(falsk positiv) og som kan behandles hos cirka halvdelen.
Op til 44% har (initialt) en falsk-negative diagnose!
Referenser:
Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Amyotrophic Lateral sclerosis
mimic syndromes. Arch Neurol 2000;57:109-13.
Belsh JM, Schiffman PL. The amyotrophic lateral sclerosis (ALS) patient perspective on
misdiagnosis and it repercussions. J Neurol Sci 1996;139(suppl):110-6.
Davenport RJ, Swingler RJ, Chancellor AM, Warlow CP. Avoiding false positive diagnoses
of motor neuron disease: lessons from the Scottish Motor Neuron Disease Register.
J Neurol Neurosurg Psychiatry 1996;60:147-51.
Brooks BR. Earlier is better: the benefits of early diagnosis.
Neurology 1999;53(suppl 5): S53-4.ALS’ 6 kliniske faser (oversikt)
1. Krisfas efter Avancerat sykdom
kontakt diagnos (e1-6 mdr) mindst >2 af følgende:
PEG, extern ventilator, el-rullestol
Inlæggelse nevrologen Stabiliseringsfasen kommunikationshjælpemiddell,
for undersøgelser 3-18 mdr personlig assistent, (1-6 mdr)
Orthopnoe og/eller
00 0 1 2 svær dyspnoe-fasen
utredning kris 3 AHS, hospis
symptom
debut
stabiliseringsfasen
4
Terminal
pleie
DIAGNOSE avancerat (Tio år efter symptomdebut
er c:a 10% af ALS-
100%
pasienter i livet uden behandling
50%
50%
OBS!
10%
26 måneder
Overlevelsestid
(ubehandlet)BEHANDLING AF ALS: ”DET ER PASIENTEN SOM BESTEMMER”
MALS Projektet 2004-2012
En EFNS arbejdsgruppe (”task force”) for den
optimale behandling av ALS
(” Management of ALS”, MALS):
European Consensus Guidelines for Diagnosing and Clinical Care of
patients and relatives.
An evidence-based review with Good Practice Points.
Referenser:
1. The European Handbook of Neurological Management, 2nd ed., chapter 17, 2010
2. Andersen PM et al. Eur J Neurol 2005;12:921-938
3. Andersen PM et al. Eur J Neurol 2012;19:360-375 (revidered version)
4. www.efns.org.
5. (Andersen PM et al. ALS 2007; 8:195-213) (EALSC’s versjon)Hvad kan man gøre, hvad skal man gøre?
Nogle punkter:
• Empati: ALS-team!
• ”Bremsemedisin”: Riluzol
• Ernæring: PEG mavesonde, ”knap” (button)
• Respirasjon: ventilator (f.eks. IMV, NIV)
• Infektionsbehandling: Aggressiv og ved mindste tegn!
• Influensavaccination (gerne også af patientens nærmeste familje)
• Aspirationsprofylakse: hostemaskine, PEG, acetylcystein
• Fysioterapi (specielt klima-terapibad 32-34oC vand, 1-2/uge)Hvordan ved vi at Riluzol har effekt?
Nervcelle
Sykdomen begynder
funksjon
(> 5 år inden pasienten får motoriske symptomer)
symptomdebut
Terskel for
symptom
Med tidig Riluzol
Nervceller
når
Rilutek
ordineres!
Tid
1
2
3 (diagnos tidspunkt)
Asymtomatisk
Symptomatisk periode
periode (>5 år?)Mange undersøgelser har udførts med Riluzole/Rilutek :
Fase III Dobbelt-blindede randomiserede undersøgelser (Klasse 1 studier)
1. Bensimon et al. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole
Study Group. N Engl J Med 1994;330:585-591.
2. Lacomblez et al. Dose-ranging study of riluzole in amyotrophic lateral sclerosis.
Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Lancet 1996;347:1425-1431.
3. Yanagisawa et al. Efficacy and safety of riluzole in patients with ALS: double blind
placebo-controlled study in Japan. Igakuno Ayumi 1997;182:851-866.
4. Bensimon et al. A study of riluzole in the treatment of advanced stage or elderly patients
with ALS. J Neurol Sci 2002;249:609-615.
Fase IV Population-baserede retrospektive undersøgelser:
1. Riviere et al. An analysis of extended survival in patients with ALS treated with riluzole.
1. xxxxxxxx
Arch Neurol 1998;55:526-528.
2. Brooks et al. (2001). Survival in Non-Riluzole treated ALS patients is identical before
and since 1996: a clinic-based epidemiological study. ALS 2001; suppl 2:60-61
3. Turner et al. Prognostic modelling of therapeutic interventions in amyotrophic lateral
sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002;3:15-21.
4. Traynor et al. An outcome study of riluzole in amyotrophic lateral sclerosis - a
population-based study in Ireland, 1996-2000. J Neurol 2003;250:473-479.Effekten af Riluzol (Rilutek) ved ALS:
Retrospektive studier med 100 mg Rilutek daglig
Engelsk studie (King’s College, University of London)
1. 656 pasienter mellen 1990 og 2000
2. Median overlevelsestid med Rilutek: 53 måneder (n = 301)
3. Median overlevelsestid uden Rilutek: 32 måneder (n = 355)
(p < 0,0001)
Irlandsk studie (Beumont Hospital, Dublin)
1. 360 pasienter mellen 1995 og 2001
2. Forlænget overlevelsestid med mindst 12 månader
3. Bedst effekt om medisinen bliver indsat tidligt.
Amerikansk studie (Madison, Wisconsin)
1. 469 pasienter
2. Median overlevelsestid med Rilutek: 58 måneder
3. Median overlevelsestid uden Rilutek: 48 måneder
4. Størst effekt hos pasienter < 45 år men effekt kan påvisas
i alla aldersgrupper.
5. Størst effekt hos pasienter med rask sykdom.Neuroprotective treatment/Disease modifying treatment
1. ALS patients should be offered treatment with riluzole 50 mg twice daily.
(Class I,
recommendation level A).
2. Patients treated with riluzole should be monitored regularly for safety.
(Class I,
recommendation level A).
3. Treatment should be initiated as early as possible after diagnosis, taking into account
expected therapeutic benefits and potential safety issues
(Class I, recommendation level A).
4. Realistic expectations for treatment effects and potential side effects should be discussed
with the patient and caregivers.
5. Treatment with riluzole should be considered in PMA and PLS patients who have a first
degree relative with ALS.
6. Patients with slowly progressive sporadic PMA, sporadic PLS or HSP should as a rule not
be treated with riluzole but treatment should be considered in “ALS-like” patients with
clinical PMA or PLS.Hvem ska ha/ikke ha Riluzol?
Konsensus hos AAN og EFNS:
ALS, PBP, Pseudo-bulbær pares, PMA (voksen variant)
Ikke konsensus:
PLS, BFA (inkl Hirayama’s variant), ALS-FTD, FTD-ALS, FTD
Den døende pasienten?Medisiner som i kliniska studier
forværrer ALS pasienter:
EDTA
Penicillamine
Minocycline (Minocine)
Topiramat (Topimax)Flere nye behandlingsforsøk for ALS 2014:
(listen er ikke fuldstændig)
Nye mediciner (11) Celle terapi (2)
Benmarvs-transplantation
Myogane
Navlestrengsblod-transplantation
Memantine
Talampanel
Tamoxifen
IV ceftriaxon
Phenylbutyrat Gene Shut-down (4)
Arimoclomol RNAi mod muteret SOD1
Aeolus/Incara 10150 DNA oligonukleotider antisense (ASO)
Cytokinetics PTC124
Thalidomid Pyrimethamine
VEGF
Stamcelle forsøk (3)Treatment Please Do Not:
Følgende behandlinger kan IKKE anbefales/frarådes:
vitaminer (spec. vit. C)
testosteron
anti-oxidanter som co-enzyme Q-10 og gingko biloba
intravenous immunoglobulin behandling, cyclosporin,
interferon, copaxone, KDI tripeptide
Neurotrofiske faktorer (inklusiv VEGF, IGF-1, mecasermin
rinfabate) ceftriaxon
kreatin
gabapentin,
minocyklin
stamceller
lithiumSymptomatic treatment: Sialorrhea and drooling: Severely affects the patients QOL 1. Treat sialorrhea in ALS with amitriptyline, oral or transdermal hyoscine, glycopyrrolate or sublingual atropine drops. 2. Botulinum toxin (type A or B) injections into the parotid and/or submandibular glands may be effective and are generally well tolerated. (Giess et al., 2000; Lipp et al., 2003; Jackson et al., 2009). 3. Irradiation of the salivary glands may be tried when pharmacological treatment fails (Four Class IV studies: Andersen et al., 2001; Harriman et al., 2001; Stalpers and Moser, 2002; Neppelberg et al., 2007). 4. Provide a portable mechanical home suction device. 5. Surgical interventions are not recommended.
Behandling af hypersalivation
• Medicinsk behandling
– Antikolinerge medicin
• Atropin tablet
• Kirurgisk
• Atropin mixtur
– Unilateral tympanisk
• Scopoderm plaster
neurektomi
• Tricykliske – Bortoperation af en spøtkirtel
antidepressive
– Laserfotokoagulation af
parotiskanalen
– Intraoral submandibular og
parotisligering
• Botulinum toxin A Røntgenbestrålning af
injeksjon i parotiskirtlen.
spøtkirtlerne
(gl. Parotis og
Submandibularis)Bronchial secretions: 1. Start with a mucolytic like N-acetylcysteine, 200-400mg three times daily. 2. Try a nebulizer with saline and a b-receptor antagonist and/or an anticholinergic bronchodilator and/or a mucolytic in combination. 3. Mucolytics should only be used if sufficient cough flow is present. 4. Teach the patient and carers the technique of assisting expiratory movements using a manual assisted cough (can also be performed by a physical therapist). 5. Provide a portable home suction device and a room humidifier. 6. A mechanical insufflator-exsufflator via a face-mask may be helpful, particularly in the setting of an acute respiratory infection. 7. A tracheostomy or cricopharyngeal myotomy may be helpful in rare cases with frequent episodes of cricopharyngeal spasm and severe bronchial secretions.
Pseudobulbar emotional lability: Occurs in >50% of ALS patients irrespective of bulbar motor signs. Currently, there are no approved treatments for pseudobulbar emotional lability. 1. Inform the patient and relatives that the emotional lability is not a sign of an additional mood disorder but is due to the effects of ALS on the brain. 2. Troublesome emotional lability should be treated: Antidepressants such as amitriptyline (in particular in patients with drooling), fluvoxamine or citalopram are usually sufficient. 3. A combination of Dextrometorphan and Quinidine has been shown to be effective in a class I A study but further experience on the long term side effects and tolerability are needed (Pioro E et al., 2010; 68: 693-702).
Spasticity Can severely affect the patients QOL. 1. Regular physical therapy can help relieve significant spasticity (Class II B) (Drory et al., 2001). 2. Hydrotherapy with exercises in warm pools (32-34oC) and cryotherapy may be considered. 3. Antispastic drugs such as baclofen and tizanidine may be tried. 4. If spasticity is severe despite oral medications, intrathecal baclofen may be helpful.
Enteral Nutrition in ALS 80% of patients with ALS develops dysphagia Weight loss and body impedance analysis changes are independent prognostic factors of survival (Desport et al., 2008) New data suggest that ALS patients have an increased resting energy expenditure independent of the thyroid gland (Vaisman et al., 2009) Weight loss in ALS may be due to: 1.Loss of muscle mass dure to wasting of skeletal muscles 2.Increased resting energy expenditure 3.Reduced caloric intake due to dysphagia 4.Reduced caloric intake due to depression/apathy
Enteral Nutrition in ALS (cont.) 1. Bulbar dysfunction and nutritional status, including weight, should be checked at each visit. 2. Difficulty drinking tap water is frequently the first sign of significant dysphagia. 3. Patients should be referred to a dietician as soon as dysphagia appears: •Ice-cold fluids or warm fluids •Carbonated liquids •Fluids containing citrate •Thickening liquids •Smaller, more frequent meals •High protein and high caloric ”soft” supplements 4. A speech and language therapist can give valuable advice on swallowing techniques (supraglottic swallowing, postural changes, ”chin tuck maneuvre”).
Enteral Nutrition in ALS (cont.) 5. The timing of PEG: bulbar symptoms, malnutrition (weight loss >10 %), respiratory function and the patient’s general condition 6. Early feeding tube insertion is highly recommended (FVC should be >50%) 7. When PEG is indicated, patient and carers should be informed: a) of the benefits and risks of the procedure, b) that it is possible to continue to take food orally as long as it is possible, c) that deferring PEG to a late disease stage may increase the risk of the procedure. 8. There is at present no convincing evidence that PEG (Heffernan et al., 2004) 1.Prevents aspiration 2.Improves QOL 3.Increases survival 9. Percutaneous Radiologic Gastrostomy (PRG; RIG) is a suitable alternative to PEG (recommendation level C).
Respiratory management 1. Symptoms or signs of respiratory insufficiency should be checked at each visit. 2. FVC and VC are the most available and practical tests for the regular monitoring of respiratory function (level C). 3. SNP may be used for monitoring, particularly in bulbar patients with weak lips (level C). 4. PNO is recommended as a screening test and for monitoring respiratory function (level C). 5. Symptoms or signs of respiratory insufficiency should prompt discussions about treatment options and the terminal phase. Early discussions are needed to allow advance planning and directives. 6. NIV should be considered in preference to IMV in patients with symptoms or signs of respiratory insufficiency. (level C). 7. Management of secretions and provision of cough assist devices can increase effectiveness of assisted ventilation. (level C). 8. NIV can prolong survival for many months and can improve patient’s quality of life. (level A, 5 studies). 9. NIV and IMV have major impact upon caregivers, and should be initiated only after informed discussion.
Respiratory management cont. 10. IMV can prolong survival in ALS but it is not documented that QOL is improved by IMV. 11. Unplanned (emergency) IMV should be avoided through early discussion of end of life issues, co-ordination with palliative care teams, and appropriate advance directives. 12. Oxygen therapy alone should be avoided as it may exacerbate CO2 retention and mouth dryness. Use oxygen only if symptomatic hypoxia is present. 13. Medical treatment of intermittent dyspnea: (level C recommendations). - short dyspneic bouts: relieve anxiety and give lorazepam 0,5-2.5 mg sublingually - longer phases of dyspnea (>30 minutes): give morphine 2.5 mg orally or s.c. (no controlled studies in ALS exists) 14. Medical treatment of chronic dyspnea: start with morphine 2.5 mg orally 4-6 times daily. For severe dyspnea give morphine s.c. or i.v. infusion. Start with 0.5 mg/h and titrate. 15. If needed, add midazolam (2.5-5 mg) or diazepam for nocturnal symtom control and to relieve anxiety (level C recommendations).
ALS Diagnosis
Check for signs and symptoms of respiratory
insufficiency at every visit
Orthopnoe or
PCEF < 270 L/min
SNP < 40 cm or
MIP < 60 cm or
FVC < 50 % or
Suction machine
Abnormal nocturnal oximetry
Mechanical insufflator-exsufflator
Manual assisted cough
Treat drooling/phlegm
Prepare Discuss with patient
Advance
respiratory treatment options
Directives
NIV initiation
Severe bulbar palsy
Tracheostomy
NIV failure
pO2 < 90%
Invasive mechanical ventilation
pCO2 > 50 mm Hg
Palliative care (home, hospice)Palliative and End-of-Life Care
1. Whenever possible, offer input from a palliative care team early in the course of
the disease.
2. Initiate discussions on end-of-life decisions whenever the patient asks – or
’opens the door’ – for end-of-life information and/or interventions.
3. Discuss the options for respiratory support and end-of-life issues if the
patient has dyspnea, other symptoms of hypoventilation, or a forced vital
capacityMedisiner ved ALS: oversikt • T Riluzol 50 mg, 1 X 2 • T paracetamol 500mg til 1000 mg, 1 X 2-3 • T Acetylcystein 200 mg, 1 X 3 • Depotplaster scopoderm (scopolamin) • Injeksjon Robinul i m • T amitryptilin10 mg, 1 X 3-5 • T Citalopram/Cipramil 20 – 40 mg (eller anden SSRI) • T Sobril/Stesolid 5 mg ved behov • Injeksjon morfin-scopolamin 2,5 mg ved behov • Pasienter med specielle behov: Lyrica, Gabapentin, Ketogan, Morfin, Metadon
Hvad kan pasienten selv gøre?
1. Få kontakt med ALS team og pasientforening
2. Planlægge din fremtid: hvordan vil jeg have det?
(alle pasienter er forskellige)
3. Få Riluzol (om du vil have det, og kroppen tåler det!)
4. Spis så meget som muligt! (kulhydrat rig kost)
5. Få PEG – om du vil have det! (jo tidligere kan være bedre)
6. Få respirator/ventilator (NIV, IMV og andre) – om du vil havde det!
Skriv et bindende aftale med din lege og pårørende
7. Vil du slutte livet hjemme/hospice/sygehus/plejehjem, eller?Helsevæsenets ”problemer” med ALS: 1. Sjelden sykdom (få har mødt pasienter med ALS) 2. Svært at stille diagnosen (>46 sykdommer som kan ligne ALS) 3. Svært at snakke om (uhelbredelig, få medisiner, kan være arvelig, eller helt ukendt årsag) 4. Det tar lang tid at få diagnosen (≈ 13-19 månader) 5. Feildiagnostik findes hos 5-8% (i Ireland, Skotland, USA) 6. Mye store forskelle i behandling og plejenivå (kontakt med ALS-team, Riluzol, elektrisk rullestol, PEG, respirator/ventilator, hospice valg) 7. Udbredt ”Mumbo Jumbo” behandling (www.alsuntangled.org)
MALS Take Home Messages 2014
• People affected with possible ALS should be examined as soon as possible by an
experienced neurologists.
• Early diagnosis should be pursued and a number of investigations should be
performed with high priority.
• The patient should be informed of the diagnosis by a consultant with a good knowledge of
the patient and the disease.
• Following diagnosis, the patient and relatives should receive regular support from a
multi-diciplinary care team.
• Medication with riluzole should be initiated as early as possible.
• Genetic testing can at present only be performed for mutations in the SOD1 gene and
should only be performed if the patient has a familial disposition for ALS.
• PEG is associated with improved nutrition and should be inserted early. The
operation is hazardous in patients with VC < 50%. RIG may be a better alternative.
• Non-invasive positive pressure ventilation improves survival and quality of life but is
unfortunately underused. Maintaining the patients ability to communicate is essential.
• During the entire course of the disease, every effort should be made to maintain
patient autonomy.
• Advance directives for palliative end of life care are important and should be fully
discussed early with the patient and relatives respecting the patients social, religious and
cultural background.You can also read
