SLIDE 1
Motor Neurone Disease Motor Neurone Disease
Hilary Fairfield
Regional Care Development Adviser
SLIDE 2 “Motor Neurone Disease”
Refers to a group of neurological diseases that selectively affect motor neurones
- Amyotrophic Lateral Sclerosis (ALS)
- Progressive Bulbar Palsy (PBP)
Progressive Bulbar Palsy (PBP)
- Progressive Muscular Atrophy (PMA)
- Primary Lateral Sclerosis (PLS)
SLIDE 3 Key facts and figures
- Terminal disease
- Adult illness
most people are over 50
- Adult illness – most people are over 50
- Male:female 3:2
I id i 2 100 000
- Incidence is 2 per 100,000
- Prevalence is 7 per 100,000
- Onset and progression is variable
- 90 – 95% have the sporadic form
90 95% have the sporadic form
SLIDE 4
Symptoms
SLIDE 5
Features at onset of MND
SLIDE 6
Clinical features of MND
SLIDE 7
Clinical features of MND
SLIDE 8 MND: A multifactorial disease
Environmental
Lifestyle/Occupation Age Gender
Genetic
Susceptibility genes
NF-H VEGF
Diet? Toxins (eg BMAA)? EMFs/Electric Shock? Athleticism? Military Service?
VEGF PER ELP3 UNC13A PON ATXN2 ZNF512B
Military Service? Infection?
ZNF512B SigmaR1 C9orf72
SLIDE 9 Familial MND: A genetic disease Familial MND: A genetic disease
Ang (2006) TDP-43 (2008) FUS (2009)
KIFAP3
DAO (2010) OPTN (2010) VCP (2010)
SOD1 (1993)
UBQLN2 (2011) C9orf72 (2011) SQSTM1 (2011) ( )
PFN1 (2012) hnRNPA1 (2013) Gene X (2014)
SLIDE 10 Rate of gene discovery is increasing: ~ 30 ALS genes involved in ALS
HNRNPA1 TAF15 PFN1 UQLN1 HNRNPA1 HNRNPA2B1
CREST
OPTN ATXN2 TAF15 p62 C9orf72 SIGR1 UQ:N2 EphA4 FUS PON1-3 KIFAP3 ATXN2 VCP DAO DCTN1 ANG KIFAP3 ELP3 CHGB UNC13A SOD1 alsin SETX VAPB TDP43 NTE U C 3
Courtesy of RH Brown Jr
SLIDE 11 “There is more going on in MND research now than at any other time. I find huge inspiration in the knowledge that when I finish my work for the day, the MND researchers in Australia are just beginning theirs”
Martin Turner
1800 2000
ALS/MND
1400 1600 entries
Huntington's Disease
800 1000 1200 PubMed e
Progressive Supranuclear Palsy
400 600 800 200
Courtesy of Martin Turner and Deanna Packham
SLIDE 12
Progressive Bulbar Palsy
SLIDE 13
Progressive Muscular Atrophy
SLIDE 14
Treatments/interventions in MND
SLIDE 15
Multidisciplinary approach
SLIDE 16
Needs of people living with MND
SLIDE 17 Improving MND Care survey 2013
B t 2009 d 2013 th i t i Between 2009 and 2013, there were improvements in: f (
- the experience of getting a diagnosis (eg. people
having tests explained to them, the opportunity to ask questions and being given the news in a private questions and being given the news in a private place)
- the number of people who have a named person co-
- rdinating their care. In 2013, 78% (n=718) had a
g , ( ) named person co-ordinating their care.
SLIDE 18 Improving MND Care survey 2013
B 2009 d 2013 h Between 2009 and 2013, there were improvements in:
- People’s ability to access and receive support
p y pp with their breathing
- In 2009, 13% of respondents used NIV,
compared to 28% of respondents in 2013 compared to 28% of respondents in 2013.
SLIDE 19
“I b thi it d d “Is your breathing monitored and assessed?” (n=913)
SLIDE 20
“Wh t i l h l d h ith “What special help do you have with your breathing?” (n=779)
SLIDE 21
“Have you been offered any information about your choices and options at the end of your life?” (n=589)
SLIDE 22
“Wh t d h i t l t th d f lif “What does having control at the end of life mean to you?” (n= 557)
SLIDE 23
Principles underpinning the Model of Care Care
SLIDE 24
Hilary Fairfield Regional Care Development Adviser Regional Care Development Adviser West of England Telephone 0845 375 1828 Email hilary.fairfield@mndassociation.org Website www.mndassociation.org Website www.mndassociation.org
