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Charcot Marie Tooth Disease. A Single Disorder?

Abstract : Peripheral neuropathies are subdivided into acquired and hereditary transmitted disorders. Among hereditary peripheral neuropathies, the most frequent is Charcot-Marie-Tooth disease (CMT). We will describe below, in detail, this disorder and its different forms. Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. On the basis of electrophysiologic properties and histopathology, CMT has been divided into primary peripheral demyelinating (type 1) and primary peripheral axonal (type 2) neuropathies. The demyelinating neuropathies classified as CMT type 1, also known as HMSN I, are characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental demyelination and remyelination with onion bulb formations on nerve biopsy. The axonal neuropathies classified as CMT type 2, also known as HMSN II, are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Among the CMT1 group, there are X-linked, autosomal dominant and autosomal recessive forms of CMT. The typical presenting symptom is a weakness of the feet and ankles. The initial physical findings are depressed or absent tendon reflexes with a weakness of foot dorsiflexion at the ankle. The typical affected adult has a bilateral foot drop, symmetrical atrophy of muscles below the knee (stork leg appearance), pes cavus, atrophy of intrinsic hand muscles, especially the thenar muscles of the thumb, and absent tendon reflexes in both upper and lower extremities. The life span is not decreased
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Submitted on : Monday, December 9, 2019 - 5:12:17 PM
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Michel Fontes. Charcot Marie Tooth Disease. A Single Disorder?. International Journal of Molecular Sciences, MDPI, 2018, 19 (12), pp.3807. ⟨10.3390/ijms19123807⟩. ⟨hal-02067479⟩



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