神經發言 Nervestalk

NE & Clinical Evaluation

• 做 Hyperekplexia 測試
  • Tap nose (Retraction)
  • Sound trigger
  • Touch trigger
• Fundus
  • Cherry red spots (DDx with lipid metabolism 那些)
• 必問
  • 喝酒會不會好，睡覺會不會消失
• 必摸肝脾腫大
• Check Negative myoclonus
  • 手掌 Reverse hyper-extension
• 要看眼睛是否有出現 Ocular flutter, Opsoclonus
• 要看喉嚨是否有 Palatal myoclonus

Anatomical Classification & Differential Diagnosis

• 要考慮 Mitochondrial disorder and Late onset neurodegenerative disorder!!!
• Infection (CJD and SSPE), Neurodegenerative disease…

1. Cortical

• EPC (Epilepsia Partialis Continua): Focal lesion or Rasmussen encephalitis.
• PME (Progressive Myoclonus Epilepsy):
  • Type 1: Unverricht-Lundborg syndrome (Gene: Cystatin B).
  • Type 2: Lafora disease (Gene: EPM2A/laforin, EPM2B/NHLRC1).
  • Neural ceroid lipofuscinosis (Batten disease).
  • Sialidosis type 1: 要看眼底 (Cherry red spots).
  • MERRF (不是 MELAS): Muscle biopsy, tRNA (8344).
  • DRPLA: Check CAG repeat.
• Symptomatic (VITAMIND):
  • V: Posthypoxic (Lance-Adams syndrome).
  • I: CJD, SSPE, HSV/HIV/HTLV1, Whipple, Lyme.
  • T: Alcohol, Lithium, SSRI, Levodopa.
  • A: SLE, SjS.
  • M: Hepatic, Renal failure (Negative myoclonus), SREAT, Hyperthyroidism.
  • I (Immune): Paraneoplastic (Stiffperson syndrome, hyperekplexia, Opsoclonus myoclonus) / PERM.
  • N: —
  • D: Storage disease, Mitochondrial disease.
• Combined Phenotypes:
  • 合併 Ataxia: SCA14, DRPLA (w/ chorea, dementia, epilepsy), Ramsay-Hunt syndrome.
  • 合併 Parkinsonism:
    • CBS (Unilateral 除了 Cortical myoclonus 以外，也要考慮 CBS).
    • MSA 在手舉起來時也會出現 mini jerky myoclonus.
  • 合併 Dementia: AD.

2. Brainstem

• Vascular: Thalamic stroke.
• Physiological: Hypnic jerks, Hiccups.
• 合併 Dystonia:
  • Myoclonus-dystonia (Essential myoclonus), DYT11: Maternal imprinting (+, 突變都是爸爸來的), Russell-Silver (染色體都從媽媽來的，也會罹病); Check gene.
  • KCTD17: Early onset, Dystonia > Myoclonus, alcohol NON-sensitive; Check gene.
  • ADCY5: AD 遺傳 (AR 要想 PDE10A); Dystonia + Chorea; Check gene.
  • CACNA1B: Cervical / Axial dystonia, Writer’s cramp and foot dystonia; Check gene.
  • ANO3.
• Hyperekplexia: Excessive startle syndrome (不同地區有不同習俗).
• Palatal Myoclonus:
  • Essential myoclonus and Symptomatic myoclonus.
  • Alexander disease: PAPT 要考慮 Alexander (Check GFAP gene).
• Reticular Myoclonus.
• Opsoclonus Myoclonus: Post-viral, Autoimmune, Paraneoplastic (Check Anti-Ri).

3. Spinal

• Segmental Myoclonus: Structural lesion.
• Propriospinal Myoclonus.

4. Peripheral

• Hemifacial Spasm.
• Symptomatic.