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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: 546 relevant articles (7 outcomes, 38 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Myotonic Dystrophy (Dystrophia Myotonica)
2.	Spinal Muscular Atrophy (Progressive Muscular Atrophy)
3.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
4.	Friedreich Ataxia (Friedreich's Ataxia)
5.	Neuromuscular Diseases (Neuromuscular Disease)

Experts

1.	Scherer, Steven S: 10 articles (08/2015 - 10/2002)
2.	Timmerman, Vincent: 10 articles (08/2012 - 03/2002)
3.	De Jonghe, Peter: 9 articles (05/2015 - 03/2002)
4.	Reilly, Mary M: 9 articles (12/2014 - 11/2004)
5.	Xia, Kun: 8 articles (02/2014 - 10/2002)
6.	Lupski, James R: 8 articles (05/2012 - 02/2002)
7.	Suter, Ueli: 7 articles (03/2014 - 12/2003)
8.	Hayasaka, Kiyoshi: 7 articles (05/2011 - 01/2003)
9.	Shy, Michael E: 6 articles (10/2015 - 10/2002)
10.	Takashima, Hiroshi: 6 articles (04/2013 - 02/2002)

Drugs and Biologics

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

1.	tebufenozide (Mimic)IBA 01/01/2011 - "The axonal form of Charcot-Marie-Tooth disease with late-onset distal weakness and distal forms of chronic spinal muscular atrophy may mimic those of the distal dystrophies. " 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."
2.	TeaIBA 11/01/2013 - "There are several lines of laboratory-based evidence emerging to suggest that purified polyphenol compounds such as resveratrol, found naturally in red grapes, epigallocatechin galate from green tea and curcumin from turmeric, might be useful for the treatment of various inherited neuromuscular diseases, including spinal muscular atrophy, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. "
3.	Prednisolone (Predate)FDA LinkGeneric 07/01/1960 - "[Charcot-Marie-Tooth disease; 2 cases improved by prednisolone]."
4.	CurcuminIBA 11/01/2013 - "There are several lines of laboratory-based evidence emerging to suggest that purified polyphenol compounds such as resveratrol, found naturally in red grapes, epigallocatechin galate from green tea and curcumin from turmeric, might be useful for the treatment of various inherited neuromuscular diseases, including spinal muscular atrophy, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. "
5.	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."
6.	resveratrolIBA 11/01/2013 - "There are several lines of laboratory-based evidence emerging to suggest that purified polyphenol compounds such as resveratrol, found naturally in red grapes, epigallocatechin galate from green tea and curcumin from turmeric, might be useful for the treatment of various inherited neuromuscular diseases, including spinal muscular atrophy, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. "
7.	gallocatechol (epigallocatechin)IBA 11/01/2013 - "There are several lines of laboratory-based evidence emerging to suggest that purified polyphenol compounds such as resveratrol, found naturally in red grapes, epigallocatechin galate from green tea and curcumin from turmeric, might be useful for the treatment of various inherited neuromuscular diseases, including spinal muscular atrophy, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. "
8.	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."
9.	connexin 32IBA 10/01/2002 - "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 - "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." 06/15/2014 - "Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. " 06/01/2013 - "X-linked Charcot-Marie-Tooth disease (CMT Type X1, OMIM: 302800) represents a frequent cause of hereditary peripheral motor and sensory neuropathies and is associated with mutations in GJB1 encoding the gap junction beta 1 protein connexin 32 (Cx32). "
10.	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). " 01/01/2012 - "Dynamin 2 in Charcot-Marie-Tooth disease." 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. "

Therapies and Procedures

1.	Resistance Training 01/01/2009 - "Only one study, involving people with Charcot-Marie-Tooth disease, demonstrated a statistically significant positive effect of strength training. " 12/01/2014 - "A pilot study of proximal strength training in Charcot-Marie-Tooth disease." 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). "
2.	Orthotic Devices (Orthosis) 06/01/2012 - "A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-tooth disease." 08/01/2011 - ": The purpose of this study was to demonstrate to what extent ankle-foot orthoses improve posture and gait control in patients with Charcot-Marie-Tooth disease and to identify the most appropriate characteristics of ankle-foot orthoses for patients regarding their clinical characteristics. " 03/01/2008 - "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). " 12/01/2012 - "Comparing gait performance of people with Charcot-Marie-Tooth disease who do and do not wear ankle foot orthoses." 08/01/2011 - "Assessment of appropriate ankle-foot orthoses models for patients with Charcot-Marie-Tooth disease."
3.	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. " 11/01/2013 - "Early results of the Bernese periacetabular osteotomy for symptomatic dysplasia in Charcot-Marie-Tooth disease." 09/01/2010 - "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." 03/18/2015 - "Plantar fasciotomy, midtarsal osteotomy, the Jones procedure, and dorsiflexion osteotomy of the first metatarsal yielded adequate correction of flexible cavus feet in patients with Charcot-Marie-Tooth disease in the absence of fixed hindfoot deformity. "
4.	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."
5.	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). " 05/01/2013 - "Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles. " 04/01/1992 - "Operative charts were reviewed in 86 patients with Charcot-Marie-Tooth disease, a condition characterized by chronic muscular denervation. " 07/01/2011 - "The results demonstrate that Charcot-Marie-Tooth disease type 4J is characterized by highly variable onset and severity, proximal as well as distal and asymmetric muscle weakness, electromyography demonstrating denervation in proximal and distal muscles, and frequent progression to severe amyotrophy. " 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. "