Transcript Ingen diastitel - Universitetssykehuset Nord

Thromsø
November 2007
Jes Rahbek MD Phd
The danish RehabilitationCenter
for Neuromuskular Diseases
Inhabitants 5.000.000
Kingdom from 930 p.c.
Jes Rahbek
M.D. Rehabilitation
RCfM – RehabiliteringsCenter for Muskelsvind
Diagnosis groups
DMD
BMD
LG
FSH
SMA 1-2-3
CM
MD
MG
ALS/MND
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Limb girdle
Facio-Scapulo-Humeral Dystrophy
Spinal Muscular Atrophy 1-2-3
Congenital Myopathy
Myotonic Dystrophy
Myasthenia Gravis
Amyotrophic Lateral Sclerosis/Motor
Neuron Disease
- all of them rare neuromuscular diseases
10 largest diagnosis groups in RCND and estimated total number in
Denmark
Absolute number per 1 January 2005
700
600
500
Rehabilitation Centre for
Neuromuscular Diseases
400
Total in Danmark
300
200
100
0
ALS
BMD
DMD
DM
FSH HSMN CMD LGMD
Diagnosis
157/158
MG
SMA
Hospitaler med neurologisk afd.
Neurologi/neuropædiatri
16 sygehuse med specialviden om
neuromuskulære sygdomme
DMD population in Denmark
Epidemiology
Incidence: 7
Prevalence 1977: 80
2003: 150
2010: ?
Description
3.5 kb
2.1 kb
5.9 kb
glutamic acid rich domain
54 kb
6.9 kb
9.2 kb
M1-M8
S1R1-R7
50
40
2.4 kb
2.3 kb
S2R1-R7
79 kb
67 kb
30
1.4 kb
40 kb
10
ATG
20
17 kb
5’UTR
3 kb
S3R1-R7
S4R1-R7
S5R1-R7
S7R1-R7
S6R1-R7
92 kb
72
60
3.9 kb
2.3 kb
5.9 kb
S9R1-R7
S10R1-R7
4.5 kb
S12R1-R7
S11R1-R7
152 kb
92
2.3 kb
2.3 kb
S158.2 kb
8.2 kb
166 kb
187 kb
122
112
3 kb
8.2 kb
173 kb
132
S13R7 S14R1-R7
S13R1-
138 kb
82
126 kb
102
3.1 kb
S8R7
S8R1-
114 kb
5.1 kb
5.5 kb
S16R1-R7
S17R1-R7
S18R1-R7
209 kb
142
4.3 kb
S19R1-R7
4.5 kb
S21R1-R7
TAG
4.0 kb
M176 – M185
3’UTR
Serine rich + SH3 domains
untranslated exons
differentially expressed exons
exons encoding unique end domains
exons encoding super repeats
exons encoding simple repeats
4.6 kb
M163 - M175
249 kb
245 kb
182
172
237 kb
S22R1-R7
183
S20R7
S20R1-
222 kb
152
199 kb
162
S15R1-R7
Hvem drejer rehabilitering sig om
Thromsø 2007
The Rehabilitation Centre for
Neuromuscular Diseases
• Government funded, national, multidisciplinary
rehabilitation centre (1992)
• Related to the patient association
Muskelsvindfonden (1976)
• 136 diagnoses, 2000 patients registered
• (1. January 2007)
FUNKTIONEL REHABILITERING
I DANMARK
Hospital
Læger:
- neurolog
- neurofysiolog
- respiratorlæge
Psykolog
Fysioterapeut
Patient og
pårørende
Ergoterapeut
Socialrådgiver
Sygeplejerske
Talepædagog
Diætist
Sygehjælper
Sekretær +mange andre
Hjemme
Praktiserende læger
Praktiserende fysiot.
Hjemmesygepl.
Hjemmehjælpere
Ergoterapeuter
Institut for
Socialrådgivere
Muskelsvind
Familie
Venner
Arbejdskolleger
Thromsø 2007
Neuromuskulær-rehabilitering
•
Thromsø 2007
1918
Pompe
1932
Centronucl. myopathy
1967
CMT (1a)
1886
SMA
1895
ALS
1862
Cure
Myotonic dystrophy
Medical trials
1965
Animal exp.
Emery Dreifuss
Animal models
1980
Prot. function
LG (2D)
Gene product
1885
Variation of gene
FSH
Gene-isolation
1860
Gene-localisation
Duchenne/ Becker
Epidemiology
Diagnosis:
Diagnostic criteria
Description
Progress in
diagnostics and
treatment in
Neuromuscular
Disorders
Enzym replacement terapy
Pompe disease
Cori GT. Harvey Lect. 1954;8:145-171. Engel AG. Brain. 1970;93:599-616. Hers HG. Biochem J. 1963;86:11-16.
Hirschhorn R, et al. In: The Metabolic and Molecular Bases of Inherited Disease. 2001:3389-3420.
Hudgson P, et al. Brain. 1968;91:435-462. Pompe JC. Ned Tijdschr Geneeskd. 1932;76:304-312.
Reuser AJJ, et al. Eur J Pediatr. 2002;161:S106-S111. Stoeckle H, et al. Am J Cardiol. 1961;8:675-681.
OVERVIEW
Muskelsvindfonden
Copenhagen 2006 - 100.000
Impairment - disability - handicap
Impairment - activity - participation
ICF
Health Condition
Disorder or disease
Body Funktions and
Structures
Impairment
Environmental
Factors
Activities
Participation
Personal
Factors
Engineering mini - genes
Utrophin upregulation in DMD
Genetherapy
Oligonucleotide-mediated gene
editing for neuromuscular disorders
Spinal bracing
Psycology/school
CPAP-treatment
Adapted wheel-chairs
Adapted homes
Scoliosis surgery
Assistive ventilation
Ambulation
Communication
Medical treatment
ALS
Physiotherapy
SMA
Education of patients
Duchenne/ Becker
1971
1976
1977
1978
1980
1982
1986
1987
1988
1993
2002
2004
Progress in
rehabilitation of
people with
Neuromuscular
Disorders
in Denmark