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Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)

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A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)

Also Known As:

Peroneal Muscular Atrophy; Roussy Levy Syndrome; Syndrome, Roussy-Levy; Charcot-Marie Disease; Charcot-Marie-Tooth Disease, Type I; Charcot-Marie-Tooth Disease, Type II; Charcot-Marie-Tooth Disease, Type Ia; Charcot-Marie-Tooth Disease, Type Ib; HMN Distal Type I; HMSN I; HMSN II; Hereditary Areflexic Dystasia; Hereditary Type I Motor and Sensory Neuropathy; Neuropathy, Type I Hereditary Motor and Sensory; Neuropathy, Type II Hereditary Motor and Sensory; Roussy Levy Hereditary Areflexic Dystasia; Roussy-Levy Disease; Areflexic Dystasia, Hereditary; Areflexic Dystasias, Hereditary; Atrophies, Peroneal Muscular; Atrophy, Peroneal Muscular; Charcot Marie Disease; Charcot Marie Tooth Disease; Charcot Marie Tooth Disease, Type I; Charcot Marie Tooth Disease, Type II; Charcot Marie Tooth Disease, Type Ia; Charcot Marie Tooth Disease, Type Ib; Dystasia, Hereditary Areflexic; Dystasias, Hereditary Areflexic; HMSN IIs; HMSN Is; HMSN Type IIs; HMSN Type Is; Hereditary Areflexic Dystasias; Hereditary Motor and Sensory Neuropathy Type II; Is, HMSN; Muscular Atrophies, Peroneal; Peroneal Muscular Atrophies; Roussy Levy Disease; Type IIs, HMSN; Atrophy, Muscular, Peroneal; HMSN Type I; HMSN Type II; Hereditary Motor and Sensory-Neuropathy Type II; Hereditary Motor, and Sensory Neuropathy Type I; Muscular Atrophy, Peroneal; Roussy-Levy Syndrome

Networked: 418 relevant articles (6 outcomes, 40 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Myotonic Dystrophy (Dystrophia Myotonica)
2.	Friedreich Ataxia (Friedreich's Ataxia)
3.	Heart Diseases (Heart Disease)
4.	Fatigue
5.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)

Experts

1.	Scherer, Steven S: 8 articles (05/2008 - 02/2002)
2.	Xia, Kun: 7 articles (08/2010 - 10/2002)
3.	Timmerman, Vincent: 7 articles (04/2010 - 06/2002)
4.	Shy, Michael E: 7 articles (04/2009 - 10/2002)
5.	Suter, Ueli: 7 articles (02/2006 - 02/2002)
6.	Fischbeck, Kenneth H: 6 articles (02/2010 - 10/2002)
7.	Hayasaka, Kiyoshi: 6 articles (02/2009 - 01/2003)
8.	De Jonghe, Peter: 6 articles (07/2008 - 06/2002)
9.	Takashima, H: 6 articles (08/2004 - 01/2001)
10.	Grandis, Marina: 5 articles (01/2010 - 09/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Charcot-Marie-Tooth Disease:

1.	tebufenozide (Mimic)IBA 10/01/1979 - "The low incidence of cardiac involvement in patients with Charcot-Marie-Tooth disease may be helpful in distinguishing this disorder from Friedreich's ataxia, an entity that may mimic Charcot-Marie-Tooth disease but that is frequently associated with heart disease." 12/01/1982 - "It is emphasised that spinocerebellar degeneration (other than Friedreich's ataxia) presenting with distal limb weakness and wasting and sensory impairment may mimic Charcot-Marie-Tooth disease." 05/01/1981 - "It is concluded that in Charcot-Marie Tooth disease incoordination may mimic cerebellar disease and when this is so it is due to the association of varying degrees of proprioceptive deafferentation and a dyskinesia similar to that produced by familial (essential) tremor." Order ALL the reference details at left...
2.	Prednisolone (Predate)FDA LinkGeneric 07/01/1960 - "[Charcot-Marie-Tooth disease; 2 cases improved by prednisolone.]" Order ALL the reference details at left...
3.	pioglitazone (Actos)FDA Link 05/01/2003 - "Marked improvement of glycaemic control with pioglitazone in a Type 2 diabetic patient associated with Charcot-Marie-Tooth disease." Order ALL the reference details at left...
4.	modafinil (armodafinil)FDA Link 10/01/2006 - "We report 4 patients with genetically confirmed Charcot-Marie-Tooth disease who had significant fatigue that was almost completely relieved by modafinil." 10/01/2006 - "Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series." Order ALL the reference details at left...
5.	connexin 32IBA 10/01/2002 - "OBJECTIVE: To report a Chinese Charcot-Marie-Tooth disease (CMT) family whose proband had abnormal brainstem auditory evoked potentials (BAEPs) and to study its relationship with connexin 32 (Cx32) gene mutation. " 02/01/2001 - "BACKGROUND: The aim of the present study was to identify the mutations in the connexin 32 gene in French-Canadian families with X-linked Charcot-Marie-Tooth disease (CMTX). " 04/01/1998 - "X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study." 02/01/2006 - "Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability." 02/01/2005 - "X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene." Order ALL the reference details at left...
6.	Ascorbic Acid (Vitamin C)FDA Link 12/01/2009 - "Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial." 06/01/2009 - "Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial." 12/01/2006 - "A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]." 02/01/2010 - "Ascorbic acid has been shown to be an essential component for in vitro myelination and to improve the clinical and pathological phenotype of a mouse model of Charcot-Marie-tooth disease 1A. " 12/01/2009 - "Charcot-Marie-Tooth disease type 1A: is ascorbic acid effective?" Order ALL the reference details at left...
7.	1-(carboxymethylthio)tetradecaneIBA 05/01/1994 - "STUDY DESIGN: This retrospective study reviewed 100 children with clinically and electrodiagnostically proven Charcot-Marie-Tooth disease (CMTD). " 01/01/1984 - "The clinical, genetic and electrophysiological study of 3 patients with an association of a neuronal form of Charcot-Marie-Tooth Disease (CMTD) with a syndrome of continuous motor unit activity (CMUA) are reported, with light and electron microscopy of muscle and sural nerve biopsies in 2 patients. " 08/14/2001 - "An example is found in the relationship of peripheral myelin protein 22 (PMP22) to Charcot-Marie-Tooth disease (CMTD) type 1A. " 01/01/2000 - "INTRODUCTION: Charcot-Marie-Tooth disease (CMTD) or hereditary motor and sensory neuropathy shows great genetic heterogeneity. " 07/01/1993 - "So, we studied 124 patients from families with typical and uncomplicated cases of Charcot-Marie-Tooth disease (CMTD): 68 patients had the "hypertrophic" form (type I) and 56 cases the "neuronal" form (type II). " Order ALL the reference details at left...
8.	Dynamin IIIBA 07/01/2008 - "The purpose of the study was to prospectively assess magnetic resonance (MR) imaging findings of lower limb musculature in an axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in the dynamin 2 gene (DNM2). " 07/01/2008 - "Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation." 07/17/2007 - "Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease." 12/01/2007 - "This study suggests that the phenotypes of dynamin 2 related centronuclear myopathy and Charcot-Marie-Tooth disease overlap and that DNM2 mutations may alter cerebral function. " 07/17/2007 - "BACKGROUND: Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant intermediate (demyelinating and axonal) Charcot-Marie-Tooth disease (CMT) type B. " Order ALL the reference details at left...
9.	Myelin P0 Protein (Myelin Protein Zero)IBA 06/01/2010 - "Charcot-Marie-Tooth disease due to novel myelin protein zero mutation presenting as late-onset remitting sensory neuropathy." 02/01/2010 - "We report the molecular characterization of two splice mutations in two different French families affected with a late onset form of Charcot-Marie-Tooth disease type 1B (CMT1B), an autosomal dominant inherited disorder caused by mutations in the myelin protein zero gene. " 12/01/2009 - "The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated with Charcot-Marie-Tooth disease type 1B (CMT1B). " 09/01/2009 - "Mutations in the myelin protein zero (MPZ) gene have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and the axonal form of the disease (CMT2). " 09/01/2009 - "Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction beta1-protein (GJB1) gene mutations are frequent causes of the Charcot-Marie-Tooth disease (CMT). " Order ALL the reference details at left...
10.	DNA (Deoxyribonucleic Acid)IBA 01/01/2006 - "RESULTS: In this study we showed that microarray MAPH measurement of PMP22 gene dosage correlates well with PMP22 gene dosage determined by capillary MAPH and that copy number was accurately reported in analyses of DNA from 38 individuals, 12 of which were known to have Charcot-Marie-Tooth disease type 1A (CMT1A). " 02/01/1998 - "Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test." 07/01/1996 - "DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies." 05/01/1996 - "Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA." 03/01/1996 - "Linkage of the genes for Charcot-Marie-Tooth disease to chromosomes 1 and then 17 was followed by the discovery that the commonest form of Charcot-Marie-Tooth disease (CMT1A) was due to a duplication of DNA at 17p11.2-12. " Order ALL the reference details at left...

Therapies and Procedures

1.	Resistance Training 01/01/2009 - "AUTHORS' CONCLUSIONS: Only one study, involving people with Charcot-Marie-Tooth disease, demonstrated a statistically significant positive effect of strength training. " 01/01/2007 - "In a trial with altogether 26 participants with Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy), long-term strength training significantly increased walking speed on a 6 metre timed walk (MD -0.70 seconds, 95% CI -1.17 to -0.23) but not on a 50 metre timed walk (MD -1.9 seconds, 95% CI -4.09 to 0.29). " 12/01/2009 - "Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease." 08/01/2004 - "Resistance training effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for exercise prescription." 01/01/2009 - "In a trial of 26 participants with Charcot-Marie-Tooth disease and 28 participants with myotonic dystrophy, 24 weeks of strength training significantly improved six-metre timed walk in the Charcot-Marie-Tooth group compared to the control group (MD 0.70 seconds, favouring strength training, 95% CI 0.23 to 1.17), but not in the myotonic dystrophy group (MD -0.20 seconds, favouring the control group, 95% CI -0.79 to 0.39). " Order ALL the reference details at left...
2.	Osteotomy 07/01/2007 - "Nine children (14 feet) diagnosed with Charcot-Marie-Tooth disease who had undergone operative treatment with a combination of osteotomies and muscle transfers were the subjects of this study. " 09/01/2010 - "OBJECTIVES: The purpose of this paper was to retrospectively evaluate the short-term to mid-term results of combined first ray proximal dorsiflexion osteotomy and soft tissue surgery in treatment of pes cavovarus with a fixed plantar flexed first ray and a passively correctable tarsus due to Charcot-Marie-Tooth disease. " 09/01/2010 - "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." 12/01/2008 - "METHODS: We evaluated twenty-five consecutive patients with Charcot-Marie-Tooth disease and cavovarus foot deformity (forty-one feet) who had undergone, between 1970 and 1994, a reconstruction consisting of dorsiflexion osteotomy of the first metatarsal, transfer of the peroneus longus to the peroneus brevis, plantar fascia release, transfer of the extensor hallucis longus to the neck of the first metatarsal, and in selected cases transfer of the tibialis anterior tendon to the lateral cuneiform. " 07/01/2010 - "There were three major complications, including excessive arterial bleeding requiring embolization in a patient with a prior acetabuloplasty, osteonecrosis of the acetabular fragment in a patient with severe dysplasia and subluxation of the hip, and osteonecrosis of the femoral head following combined periacetabular and femoral osteotomies in a patient with Charcot-Marie-Tooth disease. " Order ALL the reference details at left...
3.	Arthrodesis 07/01/1989 - "A long-term study of triple arthrodesis for correction of pes cavovarus in Charcot-Marie-Tooth disease." 10/01/1993 - "The clinical results of triple arthrodesis in the Charcot-Marie-Tooth disease patient appear to deteriorate with time. " 07/01/1989 - "Twenty-two patients with severe pes cavovarus secondary to Charcot-Marie-Tooth disease who underwent triple arthrodesis were retrospectively reviewed with an average follow-up period of 12 years, 4 months. " 03/01/1989 - "We evaluated sixteen patients who had Charcot-Marie-Tooth disease and had had a total of thirty triple arthrodeses. " 03/01/1989 - "Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease." Order ALL the reference details at left...
4.	Denervation 09/01/1998 - "The purpose of this study was to identify the frequency of fibrillation potentials and positive sharp waves (FP/PWs) in HMSN I and II and, since they are indices of denervation, to elucidate whether they are correlated with the amplitude of compound muscle action potentials (CMAP). " 04/01/1992 - "Operative charts were reviewed in 86 patients with Charcot-Marie-Tooth disease, a condition characterized by chronic muscular denervation. " 02/01/2000 - "Twelve patients with Charcot-Marie-Tooth disease type 1 (CMT1) and 11 with type 2 (CMT2), with a clinically similar range of muscle weakness of foot dorsiflexion, were subjected to macroelectromyographic (macro-EMG) examination and muscle biopsy of the tibialis anterior (TA) muscle in order to elucidate the denervation-reinnervation process in the two CMT forms. " 12/01/2008 - "Nerve-dependent changes in skeletal muscle myosin heavy chain after experimental denervation and cross-reinnervation and in a demyelinating mouse model of Charcot-Marie-Tooth disease type 1A." Order ALL the reference details at left...
5.	Orthotic Devices (Orthosis) 03/01/2008 - "AIM: The aim of this study is to evaluate the compliance with ankle-foot orthoses (AFOs) in patients previously prescribed and affected with Charcot-Marie-Tooth disease (CMT). " 03/01/2008 - "Poor compliance with ankle-foot-orthoses in Charcot-Marie-Tooth disease." Order ALL the reference details at left...

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