{"id":3608,"date":"2024-04-15T16:34:00","date_gmt":"2024-04-15T16:34:00","guid":{"rendered":"https:\/\/www.osmosis.org\/blog\/?p=3608"},"modified":"2025-10-01T11:39:34","modified_gmt":"2025-10-01T19:39:34","slug":"usmle-step-1-question-of-the-day-hypotonia","status":"publish","type":"post","link":"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia","title":{"rendered":"USMLE\u00ae Step 1 Question of the Day: Hypotonia"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_80 ez-toc-wrap-center counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">In This Article<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#The_correct_answer_to_todays_USMLE%C2%AE_Step_1_Question_is%E2%80%A6\" >The correct answer to today&#8217;s USMLE\u00ae Step 1 Question is&#8230;<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#A_Tay-Sachs_disease\" >A.&nbsp;Tay-Sachs disease<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#Incorrect_answer_explanations\" >Incorrect answer explanations<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#B_Fabry_disease\" >B.&nbsp;Fabry disease<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#C_Hunter_syndrome\" >C.&nbsp;Hunter syndrome&nbsp;&nbsp;<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#D_Niemann-Pick_disease\" >D.&nbsp;Niemann-Pick disease&nbsp;&nbsp;<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#E_Metachromatic_leukodystrophy\" >E.&nbsp;Metachromatic leukodystrophy<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#Main_Explanation\" >Main Explanation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\/#Major_Takeaway\" >Major Takeaway<\/a><\/li><\/ul><\/nav><\/div>\n\n<p class=\"wp-block-paragraph\"><strong><em>Learn about Tay-Sachs disease, an autosomal recessive neurodegenerative disorder characterized by regression of motor milestones, seizures, and a distinctive cherry-red macula.<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">An 8-month-old girl is brought to the emergency department with a seizure-like episode. The parents state the patient started contracting her upper and lower extremities for 30 seconds. Her mother has noticed she has been having difficulty feeding over the past several weeks due to an inability to suckle. Her parents state she was able to sit up on her own without support until a month ago, when they noticed that she could no longer sit up or roll over. Her birth was unremarkable.&nbsp;Temperature is 36.4\u00b0C (97.5\u00b0F), pulse is 135\/min and blood pressure is 94\/84.&nbsp;&nbsp;Motor examination reveals hypotonia in all 4 limbs, as well as increased intensity of deep tendon reflexes in all extremities. Abdominal examination is unremarkable. Bilateral fundoscopic examination reveals a bright reddish area at the center of macula surrounded by retinal opacification. Which of the following is the most likely diagnosis in this patient?&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>A.&nbsp;Tay-Sachs disease<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>B.&nbsp;Fabry disease<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>C.&nbsp;Hunter syndrome&nbsp;<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>D.&nbsp;Niemann-Pick disease&nbsp;<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>E.&nbsp;Metachromatic leukodystrophy<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Scroll down for the correct answer!<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_correct_answer_to_todays_USMLE%C2%AE_Step_1_Question_is%E2%80%A6\"><\/span>The correct answer to today&#8217;s USMLE\u00ae Step 1 Question is&#8230;<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"A_Tay-Sachs_disease\"><\/span>A.&nbsp;Tay-Sachs disease<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Before we get to the Main Explanation, let&#8217;s look at the incorrect answer explanations. Skip to the bottom if you want to see the correct answer right away!<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Incorrect_answer_explanations\"><\/span>Incorrect answer explanations<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"B_Fabry_disease\"><\/span>B.&nbsp;Fabry disease<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Fabry disease results from the accumulation of ceramide trihexoside due to deficiency of the enzyme alpha-galactosidase. It is characterized by peripheral neuropathy and dermatological manifestations like angiokeratomas and hypohidrosis. Developmental delay and seizures are not likely.&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"C_Hunter_syndrome\"><\/span>C.&nbsp;Hunter syndrome&nbsp;&nbsp;<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Hunter syndrome does present with developmental delay. However, abdominal examination will reveal hepatosplenomegaly and abdominal defects. It results from the accumulation of heparan sulfate due to a deficiency in the enzyme iduronate-2-sulfatase.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"D_Niemann-Pick_disease\"><\/span>D.&nbsp;Niemann-Pick disease&nbsp;&nbsp;<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;The presentation of Niemann-Pick disease and Tay-Sachs disease is very similar (e.g., hypotonia, cherry-red macula), although there are a few key differentiating factors. Niemann-Pick is characterized by hepatosplenomegaly (which is not seen in Tay-Sachs), as well as hyporeflexia (in contrast to hyperreflexia that is seen in Tay-Sachs). Niemann-Pick disease results from the deficient functioning of the enzyme sphingomyelinase.&nbsp;&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"E_Metachromatic_leukodystrophy\"><\/span>E.&nbsp;Metachromatic leukodystrophy<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Incorrect:<\/strong>&nbsp;Metachromatic dystrophy is a central and peripheral demyelinating disease resulting in ataxia and dementia. It is caused by a deficiency of the enzyme arylsulfatase, resulting in accumulation of the enzyme cerebroside sulfate.&nbsp;&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Main_Explanation\"><\/span><strong>Main Explanation<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">The patient described in the clinical vignette with regression of motor milestones, hypotonia, hyperreflexia, and a cherry-red macula on eye examination has features that are suggestive of&nbsp;Tay-Sachs disease.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Tay-Sachs disease (TSD) is a lysosomal storage disorder that is inherited in an&nbsp;autosomal recessive&nbsp;pattern. Genetic testing (DNA sequencing) should be offered if either partner has a family history of Tay-Sachs disease or are members of susceptible populations, such as&nbsp;Ashkanazi Jews, Cajun and Amish populations.&nbsp;&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"804\" height=\"420\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease-lysososmal-storage-disorder.png\" alt=\"tay-sachs disease, lysosomal storage disorder\" class=\"wp-image-3612\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease-lysososmal-storage-disorder.png 804w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease-lysososmal-storage-disorder.png?resize=300,157 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease-lysososmal-storage-disorder.png?resize=768,401 768w\" sizes=\"auto, (max-width: 804px) 100vw, 804px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">TSD is a&nbsp;neurodegenerative disease&nbsp;that results from the deficient functioning of the&nbsp;enzyme hexosaminidase&nbsp;that leads to the accumulation of the metabolic product&nbsp;GM2 ganglioside&nbsp;within cell lysosomes. Neuronal cells are particularly susceptible to GM2 ganglioside, and most clinical findings stem from the accumulation of this storage material. On histologic examination, neurons are ballooned with cytoplasmic vacuoles, which constitute distended lysosomes with&nbsp;ganglioside. On electron microscopy, the most prominent feature seen is a whorled configuration within lysosomes resembling \u201conion-skin layers.\u201d&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">TSD exists in two clinical phenotypes; the classic, infantile form and the late onset form. In the infantile form, most children born with TSD have normal motor development in the first couple of months of life. Then, in the first 3-5 months, they begin to demonstrate&nbsp;regression of milestones&nbsp;that they previously attained. &nbsp;Physical examination findings include macrocephaly, hypotonia,&nbsp;hyperreflexia, blindness and spasticity. One of the characteristic fundoscopy findings include a&nbsp;cherry-red spot at the macula. Mental deterioration and motor dysfunction is progressive and offers a poor prognosis. Complications include seizures, pneumonia and issues with feeding. Most patients suffering from the infantile form of Tay Sachs have a life expectancy of 2-5 years of age.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In the late onset form, symptoms are less progressive and may become evident anytime between adolescence and mid-to-late 30\u2019s.&nbsp;&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1002\" height=\"584\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease.png\" alt=\"tay-sachs disease symptoms\" class=\"wp-image-3611\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease.png 1002w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease.png?resize=300,175 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/tay-sachs-disease.png?resize=768,448 768w\" sizes=\"auto, (max-width: 1002px) 100vw, 1002px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Diagnosis is made with estimation of&nbsp;hexosaminidase activity in leukocytes, serum and other body fluids. Management is predominantly directed towards supportive care. There is no known treatment currently.&nbsp;&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" height=\"875\" width=\"1024\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/lysosomal-storage-disorder.png?w=1024\" alt=\"lysosomal storage disorders\" class=\"wp-image-3610\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/lysosomal-storage-disorder.png 1308w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/lysosomal-storage-disorder.png?resize=300,256 300w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/lysosomal-storage-disorder.png?resize=768,656 768w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/lysosomal-storage-disorder.png?resize=1024,875 1024w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Major_Takeaway\"><\/span>Major Takeaway<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Tay-Sachs disease is an autosomal recessive neurodegenerative disease that occurs due to deficiency of the enzyme hexosaminidase and the accumulation of substrates including GM2 gangliosides in lysosomes. Clinical manifestations include neurodegeneration (regression of attained milestones), seizures, and a cherry-red spot in the macula.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>References<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K. Tay-Sachs disease&#8211;carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.&nbsp;JAMA. 1993;270(19):2307-2315.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bach G, Tomczak J, Risch N, Ekstein J. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.&nbsp;Am J Med Genet. 2001;99(1):70-75. doi:10.1002\/1096-8628(20010215)99:1&lt;70::aid-ajmg1120&gt;3.0.co;2-0&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong><em>&nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; &nbsp;________________________<\/em><\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em><strong>Want more USMLE\u00ae Step 1 practice questions? Try Osmosis by Elsevier today! Access your&nbsp;<em><strong><a href=\"https:\/\/www.osmosis.org\/login?type=create\" target=\"_blank\" rel=\"noreferrer noopener\">free trial<\/a><\/strong><\/em>&nbsp;and find out why millions of current and future clinicians and caregivers love learning with us.<\/strong><\/em><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/www.osmosis.org\/ultimate-guide\/usmle-step-1\" target=\"_blank\" rel=\"noreferrer noopener\"><img loading=\"lazy\" decoding=\"async\" width=\"700\" height=\"250\" src=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/the-ultimate-guide-usmle-step-1-banner.png?w=700\" alt=\"The Ultimate Guide to the USMLE Step 1: Everything you need to know\" class=\"wp-image-760\" srcset=\"https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/the-ultimate-guide-usmle-step-1-banner.png 700w, https:\/\/www.osmosis.org\/blog\/wp-content\/uploads\/sites\/2\/2024\/09\/the-ultimate-guide-usmle-step-1-banner.png?resize=300,107 300w\" sizes=\"auto, (max-width: 700px) 100vw, 700px\" \/><\/a><figcaption class=\"wp-element-caption\"><em><em><sub>The United States Medical Licensing Examination (USMLE\u00ae) is a joint program of the Federation of State Medical Boards (FSMB\u00ae) and National Board of Medical Examiners (NBME\u00ae). Osmosis is not affiliated with NBME nor FSMB.\u00a0<\/sub><\/em><\/em><\/figcaption><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Learn about Tay-Sachs disease, an autosomal recessive neurodegenerative disorder characterized by regression of motor milestones, seizures, and a distinctive cherry-red macula. An 8-month-old girl is brought to the emergency department with a seizure-like episode. The parents state the patient started contracting her upper and lower extremities for 30 seconds. Her mother has noticed she has [&hellip;]<\/p>\n","protected":false},"author":202,"featured_media":3609,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_post_was_ever_published":false},"categories":[27,20,1366,1369,44],"tags":[],"class_list":["post-3608","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medicine","category-exam-prep","category-questions","category-step-1-questions","category-step-1"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>USMLE\u00ae Step 1 Question of the Day: Hypotonia - Osmosis 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:\/\/www.osmosis.org\/blog\/usmle-step-1-question-of-the-day-hypotonia\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"USMLE\u00ae Step 1 Question of the Day: Hypotonia - Osmosis Blog\" \/>\n<meta property=\"og:description\" content=\"Learn about Tay-Sachs disease, an autosomal recessive neurodegenerative disorder characterized by regression of motor milestones, seizures, and a distinctive cherry-red macula. An 8-month-old girl is brought to the emergency department with a seizure-like episode. The parents state the patient started contracting her upper and lower extremities for 30 seconds. 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