C-M-T Project in the Czech Republic

The Czech C-M-T Team

Czech Republic

Prague Capitol of Czech Republic

2nd Medical Facultyof 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 :

CMTpatient

Neurologist

Clinical genetist

Moleculargenetist

Orthopedist

PhysiotherapistErgotherapist

Orthotist

Electromyographist

Social WorkerTeacher

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

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

Marie193371

Josef194972

Václav1944

Václav Bohumil193773

VladimírJosef1927

Josef195775

Zlata198576

Andrea198977

Marie195974

Nikola1980

Lukáš

David1977

Marta1970

Petra1984

Andrea1993

Petr1998

Eva1998

Šárka1968

Aleš1985

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

• Rehabilitation

• Orthopedic surgery

• Medicament supporting therapy

Main Clinical Problems of CMT Disease muscle weakness – footdrop, atrophiesfoot deformities (cavus foot)gait disturbances (steppage and slapping gait)loss of balancesensory disturbancesscoliosismusculoskeletal 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 patientsn=156

82%

15%

3%

no

yes (at least one operation)

no, although it has beenrecommended to me

Orthopedic foot surgery in CMT1A patientsn=97

76%

20%

4%

no

yes (at least one operation)

no, although it has beenrecommended to me

Orthopedic foot surgery in HNPP patientsn=39

97%

3%

no

yes (at least one operation)

Orthopedic foot surgery in CMTX patientsn=16

81%

19%

no

yes (at least one operation)

Orthopedic foot surgery

0

2

4

6

8

10

12

1stdecade

2nddecade

3rddecade

4thdecade

5thdecade

the agenot

know n

age

number of patients operated inthe decade

number of patients profittingfrom the foot surgery

Profit from the foot surgeryn=21

85%

10%5%

yes

no

he does not know

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 - meetings2. informations about CMT for patients and physicans3. better colaboration between physicians and CMT

patients4. 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 ProjectDept.of Neurology Dept. of RehabilitationDoc.MUDr.M.Bojar,CSc Prim.MUDr.O.HoráčekAs.MUDr.R.Mazanec As.MUDr.A.KobesováMUDr.L.Baránková

Dept.of Child Neurology Dept. of OrthopedyMUDr.P.Seeman Doc.MUDr.V.Smetana,CScAs.MUDr.J.Kraus,CSc As.MUDr.P.Smetana MUDr.J.Haberlová

DNA laboratoryMUDr.P.SeemanMUDr.E.MikešováMUDr.L.Baránková