Il pilastro fragile neuromotolesioni: dal deficit alla strategia dell’arto inferiore

Charcot-Marie-ToothLa riabilitazione: primi passi verso le evidenze

Angelo Schenone

Dipartimento di Neuroscienze, Oftalmologia e Genetica

Università di Genova

CMT1A: possible therapeutic strategies based on “molecular evidence”

Decrease the dosage of PMP22

Reduce production

Increase elimination

First line

Protection of SC and axon

Blocking influx of Ca

Neurotrophic factors

Second line

1. 92 patients (23 per center)

2. Multicentre, prospective, randomised, single blind, controlled study

3. 3 months run in time

4. 3 months of treatment

5. Two groups:

A) Treadmill, Stretching and Proprioceptive exercises (TreSPE) (46 pts)

B) Stretching and Proprioceptive exercises (SPE) (46 pts)

6. Evaluations before (T0) and after therapy (T1)

7. FU phase (6 months).

2010-2012

1. Clarify if aerobic exercise, based on a tightly controlled program at the treadmill, is well tolerated by CMT1A patients and, eventually, may improve their ability to walk

2. Understand whether the respiratory function and cardiopulmonary response to exercise is affected in CMT1A

3. Study the maintenance of improvement, if any, in a six months follow up (FU) time

4. Evaluate the impact of rehabilitation on the quality of life.

T1 T2 T3

GroupMonths

0 - 3 3 - 6 6 - 9 9 - 15 15 – 24

1 Operators Training

Run in timeTreSPE

Follow up Data Elaboration2 SPE

DONE BY A BLIND EXAMINER

screening

1. Clinical diagnosis of familial CMT1A. All patients will undergo genetic testing before screening and only patients with a known gene mutation will be recruited.

2. Age between 18 and 65 years.

3. Ability to accomplish the primary outcome measure (10m timed walking test) without support, with or without AFO

4. Ability to walk on treadmill on a horizontal plane for 20 minutes at a speed of 1.5 km/ h, with or whithout support at the bars

5. Score at the Mobility Scale between 2 and 10

6. Score at the Borg Scale between 21 and 45

7. Signed informed patient consent to partecipate

1. Patients affected by HNPP or any other type of CMT.

2. Patients with vestibular affections, psychiatric, cardiovascular and lung disorders or severe arthropathic changes in the lower limbs preventing the performance of exercise resistance training

3. Other associated causes of neuropathy (diabetes, endocrine disorders, vasculitis, herniated disc, use of potentially neurotoxic molecules as antineoplasti drugs or alcohol consumption)

4. Non−ambulating patients or patients requiring even monolateral support to walk

5. Other neurological disorders

1. 10 - meter walk test (10MWT)

2. 6 – minute walk test (6MWT)

3. 12 – item walking scale (12WS)

4. Foot extension and foot flexion strength determined with a myometer

5. SF – 36

6. Ankle angle

7. Berg Scale

8. Mobility Scale

9. Lung function (MEP, FVC, MIP)

10. Peak oxygen consumption during an incremental exercise test on treadmill

11. Time to holding

12. FSS

13. Modified Borg Dyspnoea Scale

14. Measuring assessing the metabolic syndrome

Treadmill Training for 40’: 5’ warm up

20’ aerobic exercise (gradually incremented to 30’ from session to

session)

5’ warm down

RePh for 20’ Positive Espiratory Pressure (PEP) Bottle for 10’

Postural training according to the Meziers

Technique for the other 10’

Stretching for 20’ both at the bed and in static position

Proprioceptive and postural kinesitherapy

0 - 20’ 20 - 40’ 40 - 60’ 60 - 80’ 80 - 100’ 100 - 120’

Pt 1 TrA TrA PR B RePhC STR D BE E

Pt 2 STR D PR B Tr A Tr A BE E RePhC

Pt 3 STR D BE E PR B RePhC TrA TrA

Pt 4 PR B STR D BE E RePhC

Pt 5 BE E STR D RePhC PR B

Pt 6 BE E STR D RePhC PR B

Tr: treadmill

PR: proprioceptive exercise

RePh: respiratory exercise

STR: stretching exercise

BE: balance exercise

Treatments in red will be carried out by physioterapist 1

Treatments in black will be carried out by physioterapist 2

Treadmill, stretching, proprioceptive exercises

• MRC

• Tinetti Balance Scale

• Physical Performance Battery

• Ankle Angle

• Oxygen Consumption and Lung Function Tests

• Peak Treadmill Velocity and Slope

• 6MTW

• CMTNs

Genoa - Prof. A. Schenone Rome – Prof. L. PaduaDep. Neurosciences, Ophthalmology and Genetics Don Gnocchi FoundationUniversity of Genoa

Milan – Dr. D. Pareyson Verona – Prof. G.M. FabriziI.R.C.C.S. Foundation Dep. Neurological and Visual SciencesNeurological Institute "Carlo Besta" University of Verona