CMT Project in the Czech Republic The Czech

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

Czech Republic

Prague Capitol of Czech Republic

2 nd 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 2 nd 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 v establish correct diagnosis (distal weakness, muscle atrophies, decreased reflexes) v distinguish diseases ressembling CMT ( CIDP, lumbal spine stenosis , tethered cord) v 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 CMT 1 A -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 v mutation search in known genes v Genetic counselling (risk for further generation, prenatal diagnostic ) v Linkage studies and gene-hunting in larger families with unknown gene defect

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 v prevention of structural deformities v corrections of foot deformities v improvement of balance v improvement of skin changes (foot ulcers )

Surgery treatment of pes cavus and varus heel before after

Surgery treatment of cavus foot

Neurological therapy v 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 Dept. of Orthopedy MUDr. P. Seeman As. MUDr. J. Kraus, CSc MUDr. J. Haberlová DNA laboratory MUDr. P. Seeman MUDr. E. Mikešová MUDr. L. Baránková Doc. MUDr. V. Smetana, CSc As. MUDr. P. Smetana