• DEPT. OF NEUROLOGY
• DEPT. OF PEDIATRICS
• SCHOOL OF MEDICINE

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• Spinal Muscular Atrophy
  • What is SMA?
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• Neurotransmitter Related Disorders
  • What are PNDs?
  • Symptoms
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  • Normal PHE Levels
  • Elevated PHE Levels
  • Treatment & Management
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  • A Parent's Guide to TH Deficiency
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• BridgeMar Syndrome
  • What is BridgeMar Syndrome?
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Athetosis

• What are PNDs?
• Symptoms
• Diagnosis
• Normal PHE Levels
• Elevated PHE Levels
• Treatment & Management
• References
• Database
• Pediatric Movement Disorders Research Fund

Diagnosis

• PNDs with Normal Phenylalanine Levels
  • Segawa's Syndrome
  • Tyrosine Hydrosxlase Deficiency (TH)
  • Dopa-decarboxylase Deficiency (AADC)
  • Sepiapterin Reductase Deficiency (SPR)
  • Rare Specific Disorders
• PNDs with Elevated Phenylalanine Levels
  • 6-pyruvoyltetrahydropterin Synthase Deficiency (6-PTS/PTPS)
  • Dihydropteridine Reductase Deficiency (DHPR)
  • Guanosine Triphosphate Cyclohydrolase Deficiency (GTP)
  • Role of BH₄ in the Central Nervous System (CNS)