NE & Clinical Evaluation
- Gait
- 如果順著走不好，可以倒著走
- NE 加做
- Mirror movement
- Overflow phenomenon
- Tremor (DDx Dystonic tremor, Tremor aw dystonia)
- Sensory trick, Null point
- 病史詢問
- L-dopa responsiveness
- 思考架構
- Focal, Multifocal, Segmental, Generalized
- Age of onset
- Progressive, Static
- Diurnal change/ Sleep benefit, Action speicific, Persistent, Paroxysmal
- Feeding dystonia
- NeuAcanthocytosis, McLeod, Lesch Nyhan, Tardive dyskinesia, Wilson disease, PKAN
Differential Diagnosis (DDx)
1. Primary Dystonia
- Isolated: 3T (TOR1A, THAP1, TUBB4A) + KMT2B
- Generalized: 2N (GNAL, ANO3)
- Dystonia-Parkinsonism:
- AD (ATP1A3, DRD)
- AR (PRKRA, YOPD [Parkin, DJ1, PINK1])
- XL (Lubag)
- Dystonia-Myoclonus: SGCE, KCTD17, ADCY5, PDE10A, ANO3
2. Degenerative Diseases
- AD:
- Huntington
- DRPLA
- SCA (2, 3, 6, 12, 17)
- Neuroferritinopathy
- PKD (10), PNKD (8/9), PED (18)
- AR:
- Wilson disease
- Neuroacanthocytosis
- AT, AOA1, AOA2
- FA, AVED
- GM1, GM2, NPC, MLD, Krabbe, NCL, Homocysteinuria
- NBIA
- X-linked: Lesch-Nyhan, PLP1
- Mitochondria: MELAS, MERRF, LHON, Leigh
Note: 有 Chorea 容易合併 Dystonia
3. Secondary Causes
- Vascular: Stroke and etiology
- Inflammation:
- Behcet’s disease
- MS, NMOSD
- PANDAS
- Sjogren syndrome
- SLE
- Sydenham Chorea
- Paraneoplastic syndrome (NMDA, GAD…)
- Infection:
- SSPE
- HIV
- Encephalitis/ Meningitis
- CJD
- Toxin:
- Dopamine antagonist, DA, L-dopa, AED, CCB, Lithium, SSRI, SNRI
- Mn, CO, CS2, Methanol, Cyanide, Cocaine
4. Peripheral Dystonia & Other Mimics
Note: Consider CBD if unilateral
- Peripheral dystonia:
- Meige syndrome
- Blepharospasm
- Cranial dystonia
- Other DDx with dystonia:
- CN4 palsy
- Stiffperson syndrome
- Neuromyotonia, Spasms
- Tics
- CRPS
