NE & Clinical Evaluation
- NE Assessment
- 判斷 Phenomenology: 近端、遠端
- Controllable
- Chorea 特殊問題:
- Self-mutilation, 痛風 (r/o NeuAc [AR], McLeod [XL], Lesch-Nyhan)
- 是否有出現 feeding dystonia
- Athetosis, Ballism:
- DM, sugar control
- Seizure, EOM, Ataxia
- Milkmaid grip / Fly catching tongue
- 可以做的 Work-up
- CBC/ DC (Hb)
- Electrolytes (Na, Ca, Mg), Glu, Crea
- Pregnancy test
- Thyroid, Parathyroidism
- Vitamin B12, Pb
- Infection: HIV, VDRL/RPR, Prion
- Inflammation: Celiac disease, APS (SLE), Paraneoplastic
DDx by Anatomical Distribution (依據分布位置 DDx)
- Head: Huntington disease
- Orobuccolingual:
- Wilson disease
- Tardive dyskinesia
- Neuroacanthocytosis
- Lesch-Nyhan syndrome
- PKAN
- Secondary hepatolenticular degeneration
- Hemi:
- PV (Polycythemia vera)
- Hyperglycemic
Comprehensive Differential Diagnosis (DDx)
1. Acquired Causes
- Vascular:
- Stroke at basal ganglia
- Polycythemia vera
- Migraine
- Infection:
- Sydenham’s chorea (GAS)
- Whipple disease
- HIV infection (Merritt’s 放在 Autoimmune)
- CJD
- Toxin:
- Dopaminergic agonist
- Mg, Mn, Hg, Tl, Toluene
- Neuroleptic malignant syndrome
- Alcohol
- CO intoxication
- Amphetamine / Cocaine
- AED (Phenytoin, Carbamazepine)
- Autoimmune / Inflammation:
- SLE / APS
- Henoch-Schönlein Purpura
- Anti-NMDA
- Anti-AMPA
- Anti-CV2/CRMP5
- Other Ab: LGI1, Ma, GABA-A AB, IgLON5, CASPR2
- Chorea gravidarum
- Behçet’s, Sarcoidosis
- MS / NMO demyelinating disease
- Extrapontine myelinolysis
- Metabolic:
- Hyperthyroidism
- SREAT
- Hyper/Hypo Na, 低鎂, 低鈣
- Hemichorea (Hyperglycemia)
- Porphyria
- Lysosomal storage d/o
- Neoplasm: Tumor
- Others:
- Tardive dyskinesia
- Acquired hepatocerebral degeneration
- CHAP syndrome: Following cardiac surgery with hypothermia and extracorporeal circulation in children (choreoathetosis and orofacial dyskinesia, hypotonia, and pseudobulbar signs)
2. Hereditary Causes
- Autosomal Dominant (AD):
- Huntington’s disease: HTT (CAG repeats), Orofacial dyskinesia
- HTLD1 (PRNP): PRNP
- HTLD2 (Junctophilin 3): JPH3
- HTLD4 (SCA 17, TBP): TBP
- C9orf72
- DRPLA: ATN1; Ataxia, Dementia, Seizure, EPS (Myoclonus, Chorea)
- ADCY5: Sleep and stress induced, Axial hypotonia, Facial myokymia
- SCA (1, 2, 3, 8, 17): No correlation between repeats and clinical presentations
- Brain-Lung-Thyroid disease (BHC): NKX2.1 / TITF1 (也是 Myoclonus-Dystonia 的 DDx)
- PKD: PRRT2
- PED: GLUT1-DS (SLC2A1)
- PNKD: MR-1
- Autosomal Recessive (AR):
- Friedreich’s ataxia: FXN (GAA)
- NBIA: PKAN (PANK2), PLAN (PLA2G6), NF (FTL), ACP (CP)
- Neuroacanthocytosis: VPS13A; HDLD, Axonal neuropathy
- PDE10A
- AT: ATM
- ATLD: MRE11
- AOA1: Aprataxin
- AOA2: Senataxin
- Wilson’s disease: ATP7B
- X-Linked:
- McLeod: XK
- Lesch-Nyhan disease
- Mitochondrial:
- Leigh’s disease
- 儲積疾病 (Storage Disorders):
- NPC (Niemann-Pick disease type C)
