{"id":4444,"date":"2010-09-06T18:42:50","date_gmt":"2010-09-06T22:42:50","guid":{"rendered":"http:\/\/insidesurgery.com\/?p=4444"},"modified":"2013-06-12T22:22:32","modified_gmt":"2013-06-13T02:22:32","slug":"amyotrophic-lateral-sclerosis-als-lou-gehrigs-disease","status":"publish","type":"post","link":"https:\/\/insidesurgery.com\/2010\/09\/amyotrophic-lateral-sclerosis-als-lou-gehrigs-disease\/","title":{"rendered":"Amyotrophic Lateral Sclerosis (ALS, Lou Gehrig’s Disease)"},"content":{"rendered":"
Pathophysiology<\/strong><\/p>\n a group of disorders with progressive upper and lower motor neuron disease causing progressive motor weakness<\/p>\n Signs and Symptoms<\/strong><\/p>\n 1)<\/strong> lower motor neuron signs are symmetric muscle atrophy and fasciculation (rapid and irregular contractions that do not move the limb) 2)<\/strong> upper motor neuron signs are spasticity and hyperreflexia 3)<\/strong> first sign is usually wasting and weakness of hand muscles 1)<\/strong> hallmark is loss of large motor neurons 2)<\/strong> progressive degeneration of anterior horn motor cells accompanied by gliosis 3)<\/strong> loss of myelinated fibers laterally in corticospinal tracts 4)<\/strong> degeneration of motor nuclei in brainstem (especially hypoglossal nuclei, ambiguous and motor trigeminal nuclei 5)<\/strong> degeneration of upper motor neurons of cerebral cortex 6) atrophy of skeletal muscle fibers<\/p>\n Associated Conditions<\/strong><\/p>\n death occurs from respiratory failure and recurrent bouts of pneumonia (often owing to aspiration) 1)<\/strong> most common form of motor neuron disease 2)<\/strong> familial – 5% of cases with autosomal dominant inheritance; affected gene (chromosome 21) controls copper-zinc superoxide dismutase 3)<\/strong> duration from onset to death is usually several years 4)<\/strong> worldwide incidence 1\/100,000 5)<\/strong> peaks at ages 40-50 years 6)<\/strong> male to female; 2:1<\/p>\n Treatment<\/strong><\/p>\n 1)<\/strong> scattered early anecdotal reports of antibiotic treatment of patients who have improved or stabilized on ceftriaxone and penicillin have led to more in depth studies 2)<\/strong> some experienced ALS neurologists think that ceftriaxone may interact in a beneficial way with select neurotransmitters 3)<\/strong> a minority of physicians think some subsets of ALS may in fact be misdiagnosed Borrelia infection (Lyme disease)<\/p>\n Tips for USMLE<\/strong><\/p>\n 1)<\/strong> lower motor neuron signs are due to loss of anterior horn cells; upper motor neuron signs are due to loss of corticospinal tracts 2)<\/strong> look for a 45-year old auto mechanic who presents with a complaint of constantly dropping his tools from his right hand.<\/p>\n
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\nHistology\/Gross Pathology<\/strong><\/p>\n
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\nInheritance\/Epidemiology<\/strong><\/p>\n