Does anybody out there have any information on who I can refer a patient to for diagnosis of Charcot Marie Tooth disorder in Melbourne area? Is there an association or neurologist etc that deals with this specifically?
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Cheers
Mark
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There are CMT Associations in all States. They are represented by a national body:
Charcot-Marie-Tooth Association of Australia Inc.
Building 51, Concord Hospital
Concord, NSW, 2139
They are a fantastic resource for information on the disease and it is well worth all podiatrists getting involved. They run workshops where Pods can attend. An opportunity to see many people who have been sadly neglected or misdiagnosed.
One of the experts on the disease in Australia is podiatrist Joshua Burns in NSW. He is at the University of Sydney.
Joshua Burns
The Childrens Hospital Westmead
Locked Bag 4001
WESTMEAD 2145
Phone: 9845 1228
View Details
Also Brent Gray has been heavily involved in NSW.
Brent Gray
Epping Podiatry Centre
61 Rawson Street
Epping SYDNEY 2121
Phone: 9868 6177
View Details
In regards to a neurologist there is probably no need to find a specific CMT neurologist although Dr John Merory at Austin Repat in Melbourne is involved with the CMT association and has dealt alot with people with CMT.
Diagnosis is generally easy, if not just through physical assessment, it usually requires just nerve conduction studies which are performed by most if not all neuros regularly. There are gene tests but these are not typically required other than to clarify the type of CMT and maybe helpful for family planning, etc.
Let us know if you need any more info.
Matt -
Latest on CMT
Charcot–Marie–Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles
Brain 2006 129(2):426-437
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Charcot Marie Tooth
Orthopaedic shoes improve gait in a Charcot-Marie-Tooth patient: a combined clinical and quantified case study.
Prosthet Orthot Int. 2006 Apr;30(1):87-96
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Charcot Marie Tooth
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Foot orthoses and the cavus foot -
Comparison of CMT1A and CMT2: similarities and differences.
J Neurol. 2006 Aug 28;
Bienfait HM, Verhamme C, van Schaik IN, Koelman JH, de Visser BW, de Haan RJ, Baas F, van Engelen BG, de Visser M
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Night splinting does not increase ankle range of motion in people with Charcot-
Marie-Tooth Disease: A randomised, cross-over trial.
Australian Journal of Physiotherapy 52: 193–199] 2006
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Persistence of range of motion in dorsiflexion, when the triceps surae muscles weaken, worsens stance and gait in Charcot-Marie-Tooth disease. A case report.
Eura Medicophys. 2006 Sep 24;
Vinci P
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Orthopaedic shoes improve gait in a Charcot-Marie-Tooth patient: a combined clinical and quantified case study.
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Charcot Marie Tooth
The characteristics of gait in Charcot-Marie-Tooth disease types I and II.
Gait Posture. 2006 Sep 27;
Newman CJ, Walsh M, O'sullivan R, Jenkinson A, Bennett D, Lynch B, O'brien T
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Persistence of range of motion in dorsiflexion, when the triceps surae muscles weaken, worsens stance and gait in Charcot-Marie-Tooth disease. A case report.
Eura Medicophys. 2006 Sep;42(3):219-22
Vinci P
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Cmt
Lower limb manual muscle testing in the early stages of Charcot-Marie-Tooth disease type 1A.
Funct Neurol. 2006 Jul-Sep;21(3):159-63
Vinci P, Serrao M, Pierelli F, Sandrini G, Santilli V
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Charcot-Marie-Tooth
Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial.
Aust J Physiother. 2006;52(3):193-9
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Charcot-Marie-Tooth disease
Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet.
J Pediatr Orthop. 2006 Jul-Aug;26(4):438-43
Nagai MK, Chan G, Guille JT, Kumar SJ, Scavina M, Mackenzie WG
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Re: CMT help
Foot drop and plantar flexion failure determine different gait strategies in Charcot-Marie-Tooth patients
Romildo Dona, Mariano Serraobce, Paolo Vincid, Alberto Ranavoloa, Angelo Cacchioa, Francesco Ioppoloa, Marco Paolonia, Rita Procacciantia, Flaminia Frascarellia, Fabio De Santisa, Francesco Pierellib, Massimo Frascarellia, Valter Santillia
Clinical Biomechanics (in press)
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Re: CMT help
From Dynamic Chiropractic (much cut; here for full article)
September 24, 2007, Volume 25, Issue 20
Dealing With Charcot-Marie-Tooth Syndrome
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Re: CMT help
Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease.
Vinci P, Gargiulo P.
Eura Medicophys. 2007 Nov 22; [Epub ahead of print]
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Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease.
Vinci P, Gargiulo P.
Eur J Phys Rehabil Med. 2008 Jun;44(2):27-31.
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The links in this wikipedia insert are live and can be followed:
Charcot-Marie-Tooth disease
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Pressure characteristics in painful pes cavus feet resulting from Charcot-Marie-Tooth disease.
Crosbie J, Burns J, Ouvrier RA.
Gait Posture. 2008 May 2 [Epub ahead of print]
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Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease.
Vinci P, Gargiulo P
Eur J Phys Rehabil Med. 2008 Mar;44(1):27-31
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Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
Gallardo E, Claeys KG, Nelis E, García A, Canga A, Combarros O, Timmerman V, De Jonghe P, Berciano J.
J Neurol. 2008 Jun 17. [Epub ahead of print]
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Long-Term Results of Reconstruction for Treatment of a Flexible Cavovarus Foot in Charcot-Marie-Tooth Disease
Christina M. Ward, Lori A. Dolan, D. Lee Bennett, Jose A. Morcuende and Reginald R. Cooper
The Journal of Bone and Joint Surgery (American). 2008;90:2631-2642.
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Evolution of foot and ankle manifestations in children with CMT1A.
Burns J, Ryan MM, Ouvrier RA.
Muscle Nerve. 2009 Jan 14;39(2):158-166. [Epub ahead of print]
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Foot Build Registration System (FBRS) to evaluate foot posture: a reliability study with healthy subjects and patients with Charcot-Marie-Tooth disease
M. Tuinhout MPAa, , , P.G. Anderson MAb and J.W.K. Louwerens
Foot and Ankle Surgery Volume 15, Issue 3, September 2009, Pages 127-132
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Factors Associated With Foot and Ankle Strength in Healthy Preschool-Age Children and Age-Matched Cases of Charcot-Marie-Tooth Disease Type 1A.
Rose KJ, Burns J, North KN.
J Child Neurol. 2009 Aug 11. [Epub ahead of print]
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Hi,
Just wondering what the age of the client is?
If under 18, in Melbourne, Monique Ryan, paed Neurologist is the go to girl. She is located at the RCH and a regular collaborator in current CMT research. -
Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease.
Burns J, Raymond J, Ouvrier R.
Neuromuscul Disord. 2009 Oct 9.
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Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: A laser-evoked potential study.
Pazzaglia C, Vollono C, Ferraro D, Virdis D, Lupi V, Le Pera D, Tonali P, Padua L, Valeriani M.
Pain. 2010 Mar 22. [Epub ahead of print]
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Gait analysis in a patient with severe Charcot-Marie-Tooth disease: a case study with a new orthotic device for footdrop.
Vinci P, Paoloni M, Ioppolo F, Gargiulo P, Santilli V.
Eur J Phys Rehabil Med. 2010 May 6. [Epub ahead of print] -
Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial.
Rose KJ, Raymond J, Refshauge K, North KN, Burns J.
J Physiother. 2010;56(2):113-9.
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Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A.
Burns J, Scheinberg A, Ryan MM, Rose KJ, Ouvrier RA.
Muscle Nerve. 2010 May 18. [Epub ahead of print]
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Flexible cavovarus feet in Charcot-Marie-Tooth disease treated with first ray proximal dorsiflexion osteotomy combined with soft tissue surgery: A short-term to mid-term outcome study.
Leeuwesteijn AE, de Visser E, Louwerens JW.
Foot Ankle Surg. 2010 Sep;16(3):142-147. -
Determinants of reduced health-related quality of life in pediatric inherited neuropathies.
Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA.
Neurology. 2010 Aug 24;75(8):726-31.
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Gait analysis in a patient with severe Charcot-Marie-Tooth disease: a case study with a new orthotic device for footdrop.
Vinci P, Paoloni M, Ioppolo F, Gargiulo P, Santilli V.
Eur J Phys Rehabil Med. 2010 Sep;46(3):355-61.
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Ankle foot orthoses for people with Charcot Marie Tooth disease - views of users and orthotists on important aspects of use.
Phillips M, Radford K, Wills A.
Disabil Rehabil Assist Technol. 2011 Jan 27. [Epub ahead of print]
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Inherited Neuropathies.
Schenone A, Nobbio L, Monti Bragadin M, Ursino G, Grandis M.
Curr Treat Options Neurol. 2011 Feb 1. [Epub ahead of print]
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New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.
Berciano J, Gallardo E, García A, Pelayo-Negro AL, Infante J, Combarros O.
J Neurol. 2011 May 18. [Epub ahead of print]
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Assessment of Appropriate Ankle-Foot Orthoses Models for Patients with Charcot-Marie-Tooth Disease.
Guillebastre B, Calmels P, Rougier PR.
Am J Phys Med Rehabil. 2011 Jun 15. [Epub ahead of print]
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