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Charcot-Marie-Tooth Disease [PDF]
Foot & Ankle Specialist, 2008 Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy constitutes a genetically heterogeneous group of diseases that affect the peripheral nervous system. CMT is characterized by degeneration or abnormal development of the peripheral nerve and is transmitted with different genetic patterns.
María Cristina Manzanares Céspedes +4 more
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Journal of the Peripheral Nervous System, 2011
Charcot‐Marie‐Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described.
Matilde Laura +2 more
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Charcot‐Marie‐Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described.
Matilde Laura +2 more
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Zdravniški Vestnik, 2003 Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Jun Li, Richard A. Lewis, Michael E. Shy
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The Journal of Pediatrics, 1953
Summary A review of Charcot-Marie-Toothdisease is presented with illustrative cases. This condition can be differentiated from other neuromuscular conditions and diagnosed at a relatively early stage. It is self-limiting and surgery is of great help in restoring the affected individual to a more normal way of life.
Fremont A. Chandler, Ralph T. Lidge
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Summary A review of Charcot-Marie-Toothdisease is presented with illustrative cases. This condition can be differentiated from other neuromuscular conditions and diagnosed at a relatively early stage. It is self-limiting and surgery is of great help in restoring the affected individual to a more normal way of life.
Fremont A. Chandler, Ralph T. Lidge
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Archives of Neurology, 1967
THE credit for discovering a "new disease" is often given not to the one who describes it first but to the one who describes it when the time is ripe. Thus, Virchow,1Schultze,2and others had reported cases of peroneal atrophy previously, but in 1886 medical knowledge had advanced sufficiently to accept this entity as a nosologic addition.
Irwin A. Brody, Robert H. Wilkins
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THE credit for discovering a "new disease" is often given not to the one who describes it first but to the one who describes it when the time is ripe. Thus, Virchow,1Schultze,2and others had reported cases of peroneal atrophy previously, but in 1886 medical knowledge had advanced sufficiently to accept this entity as a nosologic addition.
Irwin A. Brody, Robert H. Wilkins
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JAMA, 1964
Peroneal muscular atrophy (Charcot-Marie-Tooth disease) in nine children often demonstrated characteristic, if not diagnostic, clinical features. A positive family history was highly suggestive. Biopsy specimens from two patients were of no value. Electromyelographic studies were not characteristic, but motor nerve conduction velocity studies done on ...
John B. Roberts, Clyde W. Dawson
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Peroneal muscular atrophy (Charcot-Marie-Tooth disease) in nine children often demonstrated characteristic, if not diagnostic, clinical features. A positive family history was highly suggestive. Biopsy specimens from two patients were of no value. Electromyelographic studies were not characteristic, but motor nerve conduction velocity studies done on ...
John B. Roberts, Clyde W. Dawson
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2013
Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability
Francisco de Assis Aquino Gondim +4 more
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Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability
Francisco de Assis Aquino Gondim +4 more
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Archives of Neurology, 2001
I n 1886, Jean-Martin Charcot and Pierre Marie 1,2 and Henry Tooth independently described the hereditary motor and sensory neuropathy that now bears their names. Their precise clinical description provided the foundation on which later physiological and genetic understanding of hereditary neuropathies is based.
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I n 1886, Jean-Martin Charcot and Pierre Marie 1,2 and Henry Tooth independently described the hereditary motor and sensory neuropathy that now bears their names. Their precise clinical description provided the foundation on which later physiological and genetic understanding of hereditary neuropathies is based.
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Pathophysiology of Charcot-Marie-Tooth Disease
Clinical Orthopaedics and Related Research, 1988The etiology of the foot deformity in patients with Charcot-Marie-Tooth disease has not previously been discussed in relation to the extrinsic muscle function around the foot and ankle. Eight adult patients with a strong familial history were evaluated, and their foot findings were remarkably similar.
Roger A. Mann, John Missirian
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