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Il pilastro fragile neuromotolesioni: dal deficit alla strategia dell’arto inferiore Charcot-Marie-Tooth La riabilitazione: primi passi verso le evidenze.

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Presentation on theme: "Il pilastro fragile neuromotolesioni: dal deficit alla strategia dell’arto inferiore Charcot-Marie-Tooth La riabilitazione: primi passi verso le evidenze."— Presentation transcript:

1 Il pilastro fragile neuromotolesioni: dal deficit alla strategia dell’arto inferiore Charcot-Marie-Tooth La riabilitazione: primi passi verso le evidenze Angelo Schenone Dipartimento di Neuroscienze, Oftalmologia e Genetica Università di Genova

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3 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

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25 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)

26 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.

27 T1 T2 T3 Group Months – 24 1 Operators Training Run in time TreSPE Follow up Data Elaboration 2 SPE DONE BY A BLIND EXAMINER screening

28 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

29 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

30 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

31 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 ’ ’ ’ ’ ’ ’ Pt 1TrA PR BRePhCSTR DBE E Pt 2STR DPR BTr A BE ERePhC Pt 3STR DBE EPR BRePhCTrA Pt 4PR BSTR DBE ERePhC Pt 5BE ESTR DRePhCPR B Pt 6BE ESTR DRePhCPR 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

32 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

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37 Genoa - Prof. A. Schenone Rome – Prof. L. Padua Dep. Neurosciences, Ophthalmology and Genetics Don Gnocchi Foundation University of Genoa Milan – Dr. D. Pareyson Verona – Prof. G.M. Fabrizi I.R.C.C.S. Foundation Dep. Neurological and Visual Sciences Neurological Institute "Carlo Besta" University of Verona


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