Table 1c.
Characteristics of childhood-onset autosomal dominant hereditary choreas.
| Disease; Gene | Region; Age | Mov Disord | Key Findings | Other Sx | NPsych | CI/Dem | I and L |
|---|---|---|---|---|---|---|---|
| ADCY5 mutation; ADCY5 | 0–20 yrs. | Chorea, myoclonus, dystonia | Episodic exacerbations of dyskinesia upon awakening or when falling asleep | Delayed milestones and axial hypotonia | No | No | – |
| Benign Hereditary Chorea; NKX2-1 | 1–20 yrs. | Chorea with mild progression | Pulmonary and thyroid problems | Short stature Developmental delay |
No | No | – |
| Tuberous sclerosis; TSC1 and TSC2 | 10 yrs. | Chorea | Benign tumors Skin abnormalities |
Behavioral symptoms Seizures Developmental problems |
Yes | Yes | I: Subependymal nodules and cortical/subcortical tubers |
Mov Dis: Movement Disorders; Sx: Symptoms; NPsych: Neuropsychiatric features; CI/Dem: Cognitive impairment or dementia; I: Imaging; L: Laboratory.