What is the differential diagnosis (ddx) of chorea?

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Differential Diagnosis for Chorea

  • Single most likely diagnosis
    • Huntington's disease: This is a common cause of chorea, especially in adults, and is characterized by an expansion of a CAG repeat in the huntingtin gene, leading to progressive damage to the basal ganglia.
  • Other Likely diagnoses
    • Sydenham's chorea: This is a major criterion for acute rheumatic fever and typically occurs in children, often following a group A streptococcal infection.
    • Benign hereditary chorea: A rare, autosomal dominant disorder that presents with non-progressive or slowly progressive chorea, often without other significant neurological symptoms.
    • Chorea associated with autoimmune disorders (e.g., systemic lupus erythematosus, antiphospholipid syndrome): These conditions can cause chorea due to inflammation and autoantibody production affecting the basal ganglia.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • Wilson's disease: A genetic disorder leading to copper accumulation in the brain and liver, which can cause chorea, among other symptoms. If untreated, it can lead to severe neurological damage and death.
    • Neuroacanthocytosis: A group of rare genetic disorders characterized by the presence of acanthocytes (abnormal red blood cells) and can lead to chorea, among other neurological symptoms.
    • Chorea due to vascular causes (e.g., stroke, vasculitis): Vascular events can cause chorea by damaging the basal ganglia, and prompt recognition and treatment are crucial to prevent further damage.
  • Rare diagnoses
    • Dentatorubral-pallidoluysian atrophy (DRPLA): A rare, autosomal dominant disorder that can cause chorea, ataxia, and other neurological symptoms due to an expansion of a CAG repeat.
    • Neurodegeneration with brain iron accumulation (NBIA): A group of rare genetic disorders characterized by iron accumulation in the brain, leading to various neurological symptoms, including chorea.
    • Chorea associated with mitochondrial disorders: Certain mitochondrial disorders, such as MELAS syndrome, can cause chorea due to impaired energy production in the brain.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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