1. C-M-T Project in the Czech Republic
The Czech C-M-T Team

2. Czech Republic

4. Prague Capitol of Czech Republic

5. 2nd Medical Faculty of Charles University and Faculty Hospital Motol

6. Management of CMT Disease in ČR
From the past till 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

7. Hereditary neuropathies – Charcot-Marie-Tooth diseases

8. CMT – complex disease Various disease aspects required collaboration of :
Diagnostics neurology, genetics, orthopedics
Therapy
rehabilitation, orthopedics, neurology
Prevention
genetics + social aspects (teachers)

9. Multidisciplinary Approach No causative treatment strategy must be based on prevention and symptomatic care provided by specialists :
Neurologist
Molecular
genetist
Electromyographist
CMT
patient
Orthopedist
Clinical
genetist
Physiotherapist
Ergotherapist
Social Worker
Teacher
Orthotist

10. Diagnostics Neurology Electrophysiology Family history - pedigree
DNA testing
Additional tests

11. 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

12. 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

13. Electrophysiology-tests & results
CMT1A -CV, CN EMG, BR – 105 pts
HNPP – CV, CN EMG,entrapments pts
CMTX – CV, CN EMG, BAEP,BR,ENG,
SEP – 22 pts
MPZ – CV, CN EMG, VEP, BAEP,SEP – 8 pts

14. Genetic Care
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

15. What can be done for C-M-T patients ??
Rehabilitation
Orthopedic surgery
Medicament supporting therapy

16. 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

17. 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

18. 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

19. C-M-T Rehabilitation Centre

20. Orthopedics
- foot deformity – pes cavus
- biomechanical deficit
- repeated ankle sprains
- tendon contractures and inflammations
- toenail deformities and ulceration
- secondary nerve entrapments
- scoliosis

21. Aims of Orthopedic Care
prevention of structural deformities
corrections of foot deformities
improvement of balance
improvement of skin changes (foot ulcers )

22. Surgery treatment of pes cavus and varus heel before after

23. Surgery treatment of cavus foot

26. Neurological therapy symptomatic farmacological treatment
( alpha lipoic acid, vitamins, creatin monohydrate, gabapentin)

27. The Czech C-M-T Association

28. The Goals and Aims of the Czech C-M-T Association
to connect CMT patients - meetings
informations about CMT for patients and physicans
better colaboration between physicians and CMT patients
improvement of relations to governamental institutions (Ministry of Health Care, Ministry of Social Events,Parliament)
to improve and promote relations to public organizations - HC givers/payers, NGOs, M. Media ( Health Insurance Company, Rehabilitation Centres and Spas )

29. Participants of C-M-T Project
Dept.of Neurology Dept. of Rehabilitation
Doc.MUDr.M.Bojar,CSc Prim.MUDr.O.Horáček
As.MUDr.R.Mazanec As.MUDr.A.Kobesová
MUDr.L.Baránková
Dept.of Child Neurology Dept. of Orthopedy
MUDr.P.Seeman Doc.MUDr.V.Smetana,CSc
As.MUDr.J.Kraus,CSc As.MUDr.P.Smetana
MUDr.J.Haberlová
DNA laboratory
MUDr.P.Seeman
MUDr.E.Mikešová