C-M-T Project in the Czech Republic

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C-M-T Project in the Czech
Republic

• The Czech C-M-T Team

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Czech Republic
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Prague Capitol of Czech Republic
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2nd Medical Facultyof Charles University and
Faculty Hospital Motol
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Management of CMT Disease in CR

• 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

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Hereditary neuropathies Charcot-Marie-Tooth
diseases
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CMT complex disease Various disease aspects
required collaboration of

• Diagnostics neurology, genetics,
  orthopedics
• Therapy
• rehabilitation, orthopedics, neurology
• Prevention
• genetics social aspects (teachers)

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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
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Diagnostics

• Neurology
• Electrophysiology
• Family history - pedigree
• DNA testing
• Additional tests

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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

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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

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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

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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

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What can be done for C-M-T patients ??

• Rehabilitation
• Orthopedic surgery
• Medicament supporting therapy

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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

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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
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  work, orthotic devices

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Approaches to Physiotherapy

• functional assesment of motor functions according
  to Vincis scale ( 7 stages )
• establish a short and long term programme
• orthotic devices recommendations

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C-M-T Rehabilitation Centre
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Orthopedics

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

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Aims of Orthopedic Care

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

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Surgery treatment of pes cavus and varus heel
before after
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Surgery treatment of cavus foot
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Neurological therapy

• symptomatic farmacological treatment
• ( alpha lipoic acid, vitamins, creatin
  monohydrate, gabapentin)

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

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Participants of C-M-T Project

• Dept.of Neurology Dept. of
  Rehabilitation
• Doc.MUDr.M.Bojar,CSc
  Prim.MUDr.O.Horácek
• 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