1. Key Insights
2. Executive Summary of Angelman Syndrome
3. SWOT Analysis for Angelman Syndrome
4. Disease Background and Overview
4.1. Introduction
4.2. Cause
4.3. Signs and Symptoms
4.4. Related Disorders and Differential Diagnosis
4.5. Complications
4.6. Genetics of Angelman syndrome
4.7. Molecular Genetic Pathogenesis
4.8. Diagnosis
4.9. Clinical criteria for diagnosis
4.10. Disease History and Medical Conditions
4.11. Diagnostic Algorithm
5. Epidemiology and Patient Population
5.1. Key Findings
5.2. 7MM Total Prevalent Patient Population of Angelman syndrome
6. Country Wise-Epidemiology of Angelman syndrome
6.1. The United States
6.1.1. Assumptions and Rationale
6.1.2. Total Prevalent Cases of Angelman Syndrome in the United States
6.1.3. Diagnosed Prevalent Cases of Angelman Syndrome in the United States
6.1.4. Angelman Syndrome cases by Mutation Types in the United States
6.1.5. Angelman Syndrome associated with Clinical Manifestations in the United States
6.2. EU5
6.2.1. Assumptions and Rationale
6.2.1.1. Germany
6.2.1.2. Total Prevalent Cases of Angelman Syndrome in Germany
6.2.1.3. Diagnosed Prevalent Cases of Angelman Syndrome in Germany
6.2.1.4. Angelman Syndrome cases by Mutation Types in Germany
6.2.1.5. Angelman Syndrome associated with Clinical Manifestations in Germany
6.2.2. France
6.2.2.1. Total Prevalent Cases of Angelman Syndrome in France
6.2.2.2. Diagnosed Prevalent Cases of Angelman Syndrome in France
6.2.2.3. Angelman Syndrome cases by Mutation Types in France
6.2.2.4. Angelman Syndrome associated with Clinical Manifestations in France
6.2.3. Italy
6.2.3.1. Total Prevalent Cases of Angelman Syndrome in Italy
6.2.3.2. Diagnosed Prevalent Cases of Angelman Syndrome in Italy
6.2.3.3. Angelman Syndrome cases by Mutation Types in Italy
6.2.3.4. Angelman Syndrome associated with Clinical Manifestations in Italy
6.2.4. Spain
6.2.4.1. Total Prevalent Cases of Angelman Syndrome in Spain
6.2.4.2. Diagnosed Prevalent Cases of Angelman Syndrome in Spain
6.2.4.3. Angelman Syndrome cases by Mutation Types in Spain
6.2.4.4. Angelman Syndrome associated with Clinical Manifestations in Spain
6.2.5. The United Kingdom
6.2.5.1. Total Prevalent Cases of Angelman Syndrome in the United Kingdom
6.2.5.2. Diagnosed Prevalent Cases of Angelman Syndrome in the United Kingdom
6.2.5.3. Angelman Syndrome cases by Mutation Types in the UK
6.2.5.4. Angelman Syndrome associated with Clinical Manifestations in the UK
6.3. Japan
6.3.1. Assumptions and Rationale
6.3.2. Total Prevalent Cases of Angelman Syndrome in Japan
6.3.3. Diagnosed Prevalent Cases of Angelman Syndrome in Japan
6.3.4. Angelman Syndrome cases by Mutation Types in Japan
6.3.5. Angelman Syndrome associated with Clinical Manifestations in Japan
7. Treatment and Management of Angelman syndrome
7.1. Recommendations for the management of Angelman Syndrome
7.2. Future treatment options for Angelman Syndrome
7.2.1. Gene Therapy
7.2.2. Topoisomerase Inhibitors
7.2.3. Minocycline
7.2.4. Cannabidiol (CBD)
7.2.5. Protein Phosphatase 2A (PP2A) Inhibitor
8. Unmet Needs
9. Organizations contributing toward Angelman Syndrome
10. KOL’s Views: Angelman Syndrome
11. Patient Journey
12. Journey toward a Diagnosis: Diagnosing a Rare form of Angelman Syndrome
13. Case Reports
13.1. A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing – A Japanese Case Study
13.2. Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform: a case report of US
13.3. Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood– A European Case Report
14. Appendix
15.Report Methodology
16. DelveInsight Capabilities
17. Disclaimer
18. About DelveInsight
Table 1: Summary of Angelman Syndrome Market, Epidemiology, and Key Events (2017–2030)Table 2: Genetic mechanisms giving rise to Angelman syndrome
Table 3: Molecular genetic testing used in AS after DNA methylation analysis
Table 4: Prevalent Patient Population of Angelman Syndrome in 7MM (2017–2030)
Table 5: Total Prevalent Cases of Angelman Syndrome in the United States (2017–2030)
Table 6: Diagnosed Prevalent Cases of Angelman Syndrome in the United States (2017–2030)
Table 7: Angelman Syndrome cases by Mutation Types in the United States (2017–2030)
Table 8: Angelman Syndrome associated with Clinical Manifestations in the United States (2017–2030)
Table 9: Total Prevalent Cases of Angelman Syndrome in Germany (2017–2030)
Table 10: Diagnosed Prevalent Cases of Angelman Syndrome in Germany (2017–2030)
Table 11: Angelman Syndrome cases by Mutation Types in Germany (2017–2030)
Table 12: Angelman Syndrome associated with Clinical Manifestations in Germany (2017–2030)
Table 13: Total Prevalent Cases of Angelman Syndrome in France (2017–2030)
Table 14: Diagnosed Prevalent Cases of Angelman Syndrome in France (2017–2030)
Table 15: Angelman Syndrome cases by Mutation Types in France (2017–2030)
Table 16: Angelman Syndrome associated with Clinical Manifestations in France (2017–2030)
Table 17: Total Prevalent Cases of Angelman Syndrome in Italy (2017–2030)
Table 18: Diagnosed Prevalent Cases of Angelman Syndrome in Italy (2017–2030)
Table 19: Angelman Syndrome cases by Mutation Types in Italy (2017–2030)
Table 20: Angelman Syndrome associated with Clinical Manifestations in Italy (2017–2030)
Table 21: Total Prevalent Cases of Angelman Syndrome in Spain (2017–2030)
Table 22: Diagnosed Prevalent Cases of Angelman Syndrome in Spain (2017–2030)
Table 23: Angelman Syndrome cases by Mutation Types in Spain (2017–2030)
Table 24: Angelman Syndrome associated with Clinical Manifestations in Spain (2017–2030)
Table 25: Total Prevalent Cases of Angelman Syndrome in the United Kingdom (2017–2030)
Table 26: Diagnosed Prevalent Cases of Angelman Syndrome in the United Kingdom (2017–2030)
Table 27: Angelman Syndrome cases by Mutation Types in the UK (2017–2030)
Table 28: Angelman Syndrome associated with Clinical Manifestations in the UK (2017–2030)
Table 29: Total Prevalent Cases of Angelman Syndrome in Japan (2017–2030)
Table 30: Diagnosed Prevalent Cases of Angelman Syndrome in Japan (2017–2030)
Table 31: Angelman Syndrome cases by Mutation Types in Japan (2017–2030)
Table 32: Angelman Syndrome associated with Clinical Manifestations in Japan (2017–2030)
Table 33: Feeding and Diet Recommendations
Table 34: Development Recommendations
Table 35: Seizure Types—the following are typical of AS:
Table 36: Treatment for Seizures and CNS
Table 37: Recommendations for the management of Angelman Syndrome
Table 38: Recommendations for the management of Vision & Hearing
Table 39: Recommendations for the management of Behavior
Table 40: Recommendations for the management of Speech and Communication
Table 41: Recommendations for the management of Dental Issues and Drooling
Table 42: General health and Anesthesia Recommendations
Table 43: Scoliosis and Skeletal Recommendations
Table 44: Puberty and Sexual Health Recommendations
Table 45: Organizations contributing to Angelman syndrome
List of Figures
Figure 1: SWOT Analysis
Figure 2: Imprinting map of Paternal and Maternal human Chromosome 15q11-13 around AS-1C
Figure 3: Imprinting map of Paternal and Maternal human Chromosome 15q11-13 around AS-1C
Figure 4: Imprinting map of Paternal and Maternal human Chromosome 15q11-13 around AS-1C
Figure 5: Diagnostic Algorithm
Figure 6: Prevalent Patient Population of Angelman Syndrome in 7MM (2017–2030)
Figure 7: Total Prevalent Cases of Angelman Syndrome in the United States (2017–2030)
Figure 8: Diagnosed Prevalent Cases of Angelman Syndrome in the United States (2017–2030)
Figure 9: Angelman Syndrome cases by Mutation Types in the United States (2017–2030)
Figure 10: Angelman Syndrome associated Clinical Manifestations in the United States (2017–2030)
Figure 11: Total Prevalent Cases of Angelman Syndrome in Germany (2017–2030)
Figure 12: Diagnosed Prevalent Cases of Angelman Syndrome in Germany (2017–2030)
Figure 13: Angelman Syndrome cases by Mutation Types in Germany (2017–2030)
Figure 14: Angelman Syndrome associated Clinical Manifestations in Germany (2017–2030)
Figure 15: Total Prevalent Cases of Angelman Syndrome in France (2017–2030)
Figure 16: Diagnosed Prevalent Cases of Angelman Syndrome in France (2017–2030)
Figure 17: Angelman Syndrome cases by Mutation Types in France (2017–2030)
Figure 18: Angelman Syndrome associated Clinical Manifestations in France (2017–2030)
Figure 19: Total Prevalent Cases of Angelman Syndrome in Italy (2017–2030)
Figure 20: Diagnosed Prevalent Cases of Angelman Syndrome in Italy (2017–2030)
Figure 21: Angelman Syndrome cases by Mutation Types in Italy (2017–2030)
Figure 22: Angelman Syndrome associated Clinical Manifestations in Italy (2017–2030)
Figure 23: Total Prevalent Cases of Angelman Syndrome in Spain (2017–2030)
Figure 24: Diagnosed Prevalent Cases of Angelman Syndrome in Spain (2017–2030)
Figure 25: Angelman Syndrome cases by Mutation Types in Spain (2017–2030)
Figure 26: Angelman Syndrome associated Clinical Manifestations in Spain (2017–2030)
Figure 27: Total Prevalent Cases of Angelman Syndrome in the United Kingdom (2017–2030)
Figure 28: Diagnosed Prevalent Cases of Angelman Syndrome in the United Kingdom (2017–2030)
Figure 29: Angelman Syndrome cases by Mutation Types in the UK (2017–2030)
Figure 30: Angelman Syndrome associated Clinical Manifestations in the UK (2017–2030)
Figure 31: Total Prevalent Cases of Angelman Syndrome in Japan (2017–2030)
Figure 32: Diagnosed Prevalent Cases of Angelman Syndrome in Japan (2017–2030)
Figure 33: Angelman Syndrome cases by Mutation Types in Japan (2017–2030)
Figure 34: Angelman Syndrome associated Clinical Manifestations in Japan (2017–2030)
Figure 35: Unmet Needs of Angelman syndrome
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