Transcript About C-M-T Project in Czech Republic

C-M-T Project
in the Czech Republic
The Czech C-M-T Team
Czech Republic
Prague
Capitol of Czech Republic
2nd Medical Faculty
of Charles University and
Faculty Hospital Motol
Management of CMT Disease in ČR
From the past till 1997 - medical care was provided
separately by various University Hospitals
(5 in Bohemia and 3 in Moravia )
1997 Medical Project for Diagnostic and
Treatment of CMT Disease
(was founded in the 2nd Medical School of Charles University,
Prague,Czech Republic)
1999 C-M-T Association was established
Hereditary neuropathies –
Charcot-Marie-Tooth
diseases
CMT – complex disease
Various disease aspects
required collaboration of :
Diagnostics
neurology, genetics, orthopedics
Therapy
rehabilitation, orthopedics, neurology
Prevention
genetics + social aspects (teachers)
Multidisciplinary Approach
No causative treatment
strategy must be
based on prevention and symptomatic care provided
by specialists :
Molecular
genetist
Clinical
genetist
Social Worker
Teacher
Neurologist
Electromyographist
CMT
patient
Orthopedist
Physiotherapist
Ergotherapist
Orthotist
Diagnostics
Neurology
Electrophysiology
Family history - pedigree
DNA testing
Additional tests
Goals of Neurological Care.
A complex approach aiming to
 establish correct diagnosis
(distal weakness, muscle atrophies,decreased
reflexes)
 distinguish diseases ressembling CMT
( CIDP, lumbal spine stenosis , tethered cord)
 follow up investigations
Electrophysiology in CMT
Conduction studies – most important tool to
confirm neuropathy
CMT Type I (CMT 1) – demyelination and
reduced NCVs ( less than 38 m/s)
CMT Type II ( CMT 2) – predominantly axonal
disease – preserved or only midly reduced
NCVs
Electrophysiology-tests & results
CMT1A -CV, CN EMG, BR
– 105 pts
HNPP – CV, CN EMG,entrapments - 38 pts
CMTX – CV, CN EMG, BAEP,BR,ENG,
SEP – 22 pts
MPZ – CV, CN EMG, VEP, BAEP,SEP – 8 pts
Genetic Care
Josef
1927
Marie
1933
71
Josef
1957
Marie
1959
75
74
Zlata
1985
Andrea
1989
76
77
Nikola
1980
Lukáš
Josef Vladimír
1949
Václav
1944
Václav
72
73
Marta David
1970 1977
Andrea
1993
Petr
1998
Petra
1984
Eva
1998
 mutation search in known genes
 Genetic counselling (risk for further generation,
prenatal diagnostic )
 Linkage studies and gene-hunting in larger
families with unknown gene defect
Bohumil
1937
Šárka
1968
Aleš
1985
What can be done for
C-M-T patients ??
• Rehabilitation
• Orthopedic surgery
• Medicament supporting therapy
Main Clinical Problems of CMT Disease
muscle weakness – footdrop, atrophies
foot deformities (cavus foot)
gait disturbances (steppage and slapping gait)
loss of balance
sensory disturbances
scoliosis
musculoskeletal pain
The Aim of Physiotherapy
maximazing strenght
gait improvement
insuring safety
injuries from falls
minimizing discomfort
low back pain,joint pain
protecting joint
foot and spine deform.
conserving energy
ergotherapy,ability to
work, orthotic devices
Approaches to Physiotherapy
functional assesment of motor functions
according to Vinci´s scale ( 7 stages )
establish a short and long term
programme
orthotic devices recommendations
C-M-T Rehabilitation Centre
Orthopedics
- foot deformity – pes cavus
- biomechanical deficit
- repeated ankle sprains
- tendon contractures and inflammations
- toenail deformities and ulceration
- secondary nerve entrapments
- scoliosis
Aims of Orthopedic Care
 prevention of structural deformities
 corrections of foot deformities
 improvement of balance
 improvement of skin changes
(foot ulcers )
Surgery treatment of pes cavus
and varus heel
before
after
Surgery treatment of cavus foot
Orthopedic foot surgery in CMT patients
3%
n=156
15%
no
yes (at least one operation)
no, although it has been
recommended to me
82%
Orthopedic foot surgery in CMT1A patients
Orthopedic foot surgery in HNPP patients
n=97
3%
4%
n=39
20%
no
yes (at least one operation)
no, although it has been
recommended to me
no
yes (at least one operation)
76%
97%
Orthopedic foot surgery in CMTX patients
n=16
19%
no
yes (at least one operation)
81%
Orthopedic foot surgery
12
10
8
6
4
2
0
1st
decade
2nd
decade
3rd
decade
4th
decade
age
5th
decade
the age
not
know n
number of patients operated in
the decade
number of patients profitting
from the foot surgery
Profit from the foot surgery
n=21
5%
10%
yes
no
he does not know
85%
Neurological therapy
 symptomatic farmacological treatment
( alpha lipoic acid, vitamins, creatin monohydrate,
gabapentin)
The Czech C-M-T Association
www.websiska.cz/C-M-T/
The Goals and Aims of
the Czech C-M-T Association
1. to connect CMT patients - meetings
2. informations about CMT for patients and
physicans
3. better colaboration between physicians and CMT
patients
4. improvement of relations to governamental
institutions (Ministry of Health Care, Ministry of Social
Events,Parliament)
5. to improve and promote relations to public
organizations - HC givers/payers, NGOs, M.
Media ( Health Insurance Company, Rehabilitation Centres and Spas )
Participants of C-M-T Project
Dept.of Neurology
Dept. of Rehabilitation
Doc.MUDr.M.Bojar,CSc
As.MUDr.R.Mazanec
MUDr.L.Baránková
Prim.MUDr.O.Horáček
As.MUDr.A.Kobesová
Dept.of Child Neurology
MUDr.P.Seeman
As.MUDr.J.Kraus,CSc
MUDr.J.Haberlová
DNA laboratory
MUDr.P.Seeman
MUDr.E.Mikešová
MUDr.L.Baránková
Dept. of Orthopedy
Doc.MUDr.V.Smetana,CSc
As.MUDr.P.Smetana