Spiny Red Cell Chorea Quiz
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Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
Content updated on Mar 31, 2024
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How Ubie Can Help You
With an easy 3-min questionnaire , Ubie's AI-powered system will generate a free report on possible causes.
Questions are customized to your situation and symptoms, including the following personal information:
Biological Sex - helps us provide relevant suggestions for male vs. female conditions.
Age - adjusts our guidance based on any age-related health factors.
History - considers past illnesses, surgeries, family history, and lifestyle choices.
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✔︎ When to see a doctor
✔︎ What causes your symptoms
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People with similar symptoms also use Ubie's symptom checker to find possible causes
Abnormal gait
Slow twitching of arms and legs
Twitching in one side of the body
Shuffle when I walk
Involuntary movements at night
Sudden movement
Focal aware seizures
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What is Spiny Red Cell Chorea?
Spiny red cell chorea, also known as chorea-acanthocytosis or Levine-Critchley syndrome, is a very rare neurological disorder characterized by high numbers of misshapen, spiny red blood cells (acanthocytes) circulating in the bloodstream, combined with rapid, involuntary, purposeless movements (chorea). Additional symptoms can include include seizures and odd behavior. The disorder is caused by a mutation on the VPS13A gene and runs in families.
Typical Symptoms of Spiny Red Cell Chorea
Uncontrollable movements
Difficulty in walking
Hands and legs do not move properly
Hands and legs became clumsy - I cannot do fine work with them
Irresistible urge to make small movements e.g. squeeze eyes, blink, or shrug shoulders
Slurred speech
Doctor's Diagnostic Questionson Spiny Red Cell Chorea
Your doctor may ask these questions to check for this disease:
Do you have uncontrollable movements in your hands, legs, or face?
Is walking difficult for you?
Are you having difficulty moving your arms and legs?
Are your movements and coordination feeling more difficult or clumsy lately?
Do you have repetitive movements like shoulder jerking, facial muscle twitching, or eye blinking?
Treatmentof Spiny Red Cell Chorea
Currently, there is no treatment to cure, prevent, or slow the progression of Spiny red cell chorea or Chorea-acanthocytosis. Treatment primarily focuses on symptom management and support.
Think you might have
Spiny Red Cell Chorea
View the symptoms of Spiny Red Cell Chorea
Diseases related to Spiny Red Cell Chorea
References
Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015 Oct 19;5:346. doi: 10.7916/D8W66K48. PMID: 26504667; PMCID: PMC4613733.
https://tremorjournal.org/articles/10.5334/tohm.274
Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):121-2. doi: 10.1038/88825. PMID: 11381254.
https://www.nature.com/articles/ng0601_121
Danek A, Bader B, Velayos-Baeza A, Walker RH. Autosomal recessive transmission of chorea-acanthocytosis confirmed. Acta Neuropathol. 2012 Jun;123(6):905-6. doi: 10.1007/s00401-012-0971-y. Epub 2012 Apr 3. PMID: 22476160; PMCID: PMC4629413.
https://link.springer.com/article/10.1007/s00401-012-0971-y
Jung HH, Danek A, Walker RH. Neuroacanthocytosis syndromes. Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213; PMCID: PMC3212896.
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-68
User Testimonials
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
Think you might have
Spiny Red Cell Chorea
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Cardiothoracic Surgery, Vascular Surgery
Cardiothoracic and Vascular Surgery Associates
