Chorea Phenomenology Atlas (Part 3): HDL-2, Neuroacanthocytosis and Benign Hereditary Chorea
Huntington Disease-Like 2 (HDL-2)
Video 11.28 (C11c45): Huntington Disease-Like 2
Moderate generalized chorea and motor impersistence with negative HTT testing and positive JPH3 expansion.
Neuroacanthocytosis
Video 11.29 (C11c46): Neuroacanthocytosis
Mild generalized chorea, severe tongue injury from self-biting, motor impersistence, and characteristic “rubber man” gait.
Video 11.30 (C11c47): Progressive Neuroacanthocytosis
Mild chorea progressing to severe feeding impairment, falls, and PEG tube dependence.
Video 11.31 (C11c48): Advanced Neuroacanthocytosis
Tongue protrusion dystonia, dysphagia, parkinsonism, areflexia, and acanthocytosis.
Benign Hereditary Chorea (BHC)
Video 11.32 (C11c49): Benign Hereditary Chorea (NKX2-1/TTF-1 Related)
Familial non-progressive chorea with parakinesia and absence of motor impersistence.
Video 11.33 (C11c50): Childhood Benign Hereditary Chorea
Generalized chorea and gait instability improving with levodopa.
Video 11.34 (C11c51): Benign Hereditary Chorea with Dystonia
Mild chorea, gait instability, and levodopa-responsive symptoms.
Video 11.35 (C11c52): Adult Benign Hereditary Chorea
Mild lifelong generalized chorea with preserved professional function.
Video 11.36 (C11c53): Mild Benign Hereditary Chorea
Distal chorea activated by concentration without motor impersistence.