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C-M-T Project in the 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.

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C-M-T Project in the Czech Republic

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

  2. Czech Republic

  3. Prague Capitol of Czech Republic

  4. 2nd Medical Facultyof Charles University and Faculty Hospital Motol

  5. 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

  6. Hereditary neuropathies – Charcot-Marie-Tooth diseases

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

  8. 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

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

  10. Goals of Neurological Care.A complex approach aiming to • establish correct diagnosis(distalweakness, muscle atrophies,decreased reflexes) • distinguish diseases ressembling CMT • ( CIDP, lumbal spine stenosis , tethered cord) • follow up investigations

  11. 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

  12. 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

  13. 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

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

  15. 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

  16. 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

  17. 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

  18. C-M-T Rehabilitation Centre

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

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

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

  22. Surgery treatment of cavus foot

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

  24. The Czech C-M-T Association www.websiska.cz/C-M-T/

  25. 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 )

  26. 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 MUDr.L.Baránková

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