https://wikem.org/w/index.php?action=history&feed=atom&title=Huntington_diseaseHuntington disease - Revision history2026-04-17T18:53:50ZRevision history for this page on the wikiMediaWiki 1.38.2https://wikem.org/w/index.php?title=Huntington_disease&diff=376431&oldid=prevCole Ettingoff: Created page with "==Background== Huntington disease (HD) is a progressive, autosomal dominant neurodegenerative disorder caused by CAG trinucleotide repeat expansion in the HTT gene on chromosome 4. Onset typically occurs between ages 30 and 50. HD is characterized by a triad of movement abnormalities, psychiatric symptoms, and cognitive decline. While not usually a diagnosis made in the ED, patients with known HD often present with behavioral disturbances, injuries from falls, or complic..."2025-05-05T16:40:11Z<p>Created page with "==Background== Huntington disease (HD) is a progressive, autosomal dominant neurodegenerative disorder caused by CAG trinucleotide repeat expansion in the HTT gene on chromosome 4. Onset typically occurs between ages 30 and 50. HD is characterized by a triad of movement abnormalities, psychiatric symptoms, and cognitive decline. While not usually a diagnosis made in the ED, patients with known HD often present with behavioral disturbances, injuries from falls, or complic..."</p>
<p><b>New page</b></p><div>==Background==<br />
Huntington disease (HD) is a progressive, autosomal dominant neurodegenerative disorder caused by CAG trinucleotide repeat expansion in the HTT gene on chromosome 4. Onset typically occurs between ages 30 and 50. HD is characterized by a triad of movement abnormalities, psychiatric symptoms, and cognitive decline. While not usually a diagnosis made in the ED, patients with known HD often present with behavioral disturbances, injuries from falls, or complications related to disease progression.<br />
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==Clinical Features==<br />
=== Motor symptoms ===<br />
* Chorea (involuntary, jerky movements)<br />
* Clumsiness, unsteady gait<br />
* Dystonia or rigidity (in later stages)<br />
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=== Cognitive decline ===<br />
* Poor executive function, memory deficits<br />
* Progressive dementia<br />
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=== Psychiatric/behavioral symptoms ===<br />
* Depression, apathy, anxiety<br />
* Psychosis, irritability, impulsivity<br />
* Suicide risk is elevated<br />
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=== Other ===<br />
Dysphagia, weight loss, incontinence in later stages<br />
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==Differential Diagnosis==<br />
* Wilson disease (especially in younger patients)<br />
* Drug-induced (e.g., levodopa, antipsychotics)<br />
* Sydenham chorea (post-streptococcal)<br />
* Lupus or other autoimmune encephalopathies<br />
* Hyperthyroidism<br />
* Neuroacanthocytosis, spinocerebellar ataxias<br />
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==Evaluation==<br />
===Workup===<br />
* Vitals + glucose<br />
* Electrolytes, BUN/Cr, LFTs<br />
* Toxicology screen (especially if altered)<br />
* TSH if new movement disorder<br />
* Head CT or MRI if new-onset neurologic symptoms or trauma<br />
* Consider psychiatric evaluation if behavioral disturbance, suicidality, or psychosis<br />
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===Diagnosis===<br />
* Definitive diagnosis is genetic testing for >36 CAG repeats in the HTT gene<br />
* Brain imaging may show caudate nucleus atrophy, but is not diagnostic<br />
* In ED, diagnosis is often known or suspected from history/family<br />
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==Management==<br />
* Chorea: May be treated with [[Tetrabenazine|tetrabenazine]], [[Deutetrabenazine|deutetrabenazine]], or [[Antipsychotics|antipsychotics]] (e.g., [[Risperidone|risperidone]])<br />
* Psychosis/agitation: Use [[Atypical antipsychotics|atypical antipsychotics]] (e.g., [[Quetiapine|quetiapine]], olanzapine) with caution<br />
* Depression/suicidality: [[Selective serotonin reuptake inhibitor toxicity|SSRIs]] are first-line; ED physicians should [[SAD PERSONS score|screen all HD patients for suicide risk]]<br />
* Injury/fall management: Evaluate for trauma (head, cervical spine, fractures)<br />
* Aspiration or dysphagia complications: May require speech/swallow evaluation or acute airway management<br />
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==Disposition==<br />
Admission:<br />
* Acute injury, trauma, or fall<br />
* Aspiration pneumonia or dysphagia-related complications<br />
* Severe psychiatric symptoms (e.g., [[Suicidality|suicidality]], [[psychosis]])<br />
* <br />
Necessary for Discharge:<br />
* Follow-up with neurology or movement disorder specialist<br />
* Clear communication with caregivers<br />
* Psychiatric or social work consult if needed for resources/care planning<br />
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==See Also==<br />
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==External Links==<br />
[https://www.ncbi.nlm.nih.gov/books/NBK1305/ GeneReviews: Huntington Disease]<br />
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==References==<br />
<references/></div>Cole Ettingoff