{"id":4987,"date":"2010-12-26T18:37:12","date_gmt":"2010-12-26T23:37:12","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=4987"},"modified":"2011-04-07T17:17:54","modified_gmt":"2011-04-07T21:17:54","slug":"charcotmarietooth-disease","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2010\/12\/charcotmarietooth-disease\/","title":{"rendered":"Charcot-Marie-Tooth Disease"},"content":{"rendered":"


\nPathophysiology<\/strong><\/p>\n

1)<\/strong> heterogeneous group of hereditary peripheral neuropathies 2)<\/strong> type 1 – most common; marked by demyelination 3)<\/strong> type 2 – less severe clinically; lacks demyelination 4)<\/strong> type 3 (Dejerine-Sottas disease) – infantile onset; severe symptoms 5)<\/strong> type 4 – rare; X-linked recessive 6) frequency for all variants combined is 1\/2,500<\/p>\n

Signs and Symptoms<\/strong><\/p>\n

1)<\/strong> onset is in adolescence with both motor and sensory deficits 2)<\/strong> distal extremity weakness 3)<\/strong> distal atrophy 4)<\/strong> decreased deep tendon reflexes 5)<\/strong> high stepping gait 6)<\/strong> frequent falls 7)<\/strong> abnormal feet (commonly pes cavus or high arches)<\/p>\n

Characteristic Test Findings<\/strong><\/p>\n

EMG<\/em> – 1) type 1 – decreased nerve-conduction velocity 2) type 2 – normal or only slightly decreased nerve-conduction velocity<\/p>\n

Histology\/Gross Pathology<\/strong><\/p>\n

1)<\/strong> type 1 – axonal degeneration, segmental demyelination, onion bulbs, and nerve hypertrophy 2)<\/strong> type 2 – distal axonal degeneration only<\/p>\n

Associated Conditions<\/strong><\/p>\n

1)<\/strong> focal segmental glomerulosclerosis 2)<\/strong> destructive arthritis<\/p>\n

Inheritance\/Epidemiology<\/strong><\/p>\n

1)<\/strong> autosomal dominant 2)<\/strong> most common peripheral hereditary neuropathy 3)<\/strong> type 1A – gene deficit is duplication-type defect on chromosome 17 (likely involves peripheral myelin protein 22) 4)<\/strong> type 1B – gene defect on chromosome 1 (likely involves myelin protein zero) 5)<\/strong> type 1A most common variant<\/p>\n

Tips for USMLE<\/strong><\/p>\n

all drugs with known neurologic side effects should be avoided (e.g., vincristine, metronidazole)
\n<\/p>\n","protected":false},"excerpt":{"rendered":"

Pathophysiology 1) heterogeneous group of hereditary peripheral neuropathies 2) type 1 – most common; marked by demyelination 3) type 2 – less severe clinically; lacks demyelination 4) type 3 (Dejerine-Sottas disease) – infantile onset; severe symptoms 5) type 4 – rare; X-linked recessive 6) frequency for all variants combined is 1\/2,500 Signs and Symptoms 1) […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[63],"tags":[3788,2149,3790,3791,3789,435],"yoast_head":"\nCharcot-Marie-Tooth Disease - InsideSurgery Medical Information Blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/insidesurgery.com\/2010\/12\/charcotmarietooth-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Charcot-Marie-Tooth Disease - InsideSurgery Medical Information Blog\" \/>\n<meta property=\"og:description\" content=\"Pathophysiology 1) heterogeneous group of hereditary peripheral neuropathies 2) type 1 – most common; 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