Huntington Chorea As a Presentation of Neurodegeneration With Brain Iron Accumulation (NBIA)

The patient in this video had a Huntington Disease phenotype with abnormal basal ganglia signals on MRI and genetic variants associated with neurodegeneration with brain iron accumulation (NBIA) disorder. He was one of a series of patients with Huntington-like chorea who tested negative for the typically causative mutation, an expanded CAG repeat in the HTT gene exceeding 35 units. This video illustrates his generalized chorea predominating in the upper limbs and associated with myoclonus (00:07). His myoclonus subsequently worsened as his chorea decreased (00:50), and he developed bradykinesia and extrapyramidal rigidity (01:11).

[nicoleclarencemagtagnob]

Thank you patient, for giving the permission and consent to record you and share the clip to online platforms for educational purposes.

[hasonerifed]

Thanks to the patient, I'll never forget what Huntington disease looks like, and it is helping me though pharmacology studying

[no-one]

You’re a brave and beautiful person, and helping so many students become doctors❤ also lovely smile❤

[nayanmolla]

Will always remember your kind, gentle, warm n optimistic smile in my heart! ❤️

[TheWilsonbest]

thank you to your patient and for uploading

[abdulrazakalmarashli]

Although he is sick, he was smiling around.

[nayanmolla]

Thank you, Man! ❤️❤️❤️ for presenting yourself! 🙏🏻

[freqeist]

my best friend has it, we did our medical training together, Huntingdons knows no mercy.

[jawadfarooq]

Thankyou for video LOve and prays fro Pakistan