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Updates in Neuronal Ceroid Lipofuscinosis

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Presentation on theme: "Updates in Neuronal Ceroid Lipofuscinosis"— Presentation transcript:

1 Updates in Neuronal Ceroid Lipofuscinosis

2

3 Introduction

4 Genetics and Epidemiology

5 Clinical Presentation

6 Clinical Example

7 Diagnostic Algorithm

8 Diagnosis: EEG

9 Diagnosis: Ophthalmological Evaluations

10 EEG

11 EEG With IPS

12 Language Delay

13 Language Delay (cont)

14 Differential Diagnosis

15 Differential Diagnosis (cont)

16 Prognosis Over Time

17 CLN2: Effect on Family

18 Family Planning

19 Symptom Management: Nonpharmacologic

20 Symptom Management: Epilepsy

21 Symptom Management: Movement

22 Symptom Management: Psychopathological and Sleep

23 Multidisciplinary Care

24 Mechanism of Action for Future Therapies

25 Enzyme Replacement Therapy

26 Stem Cell Therapy

27 Gene Therapy

28 Gene Therapy (cont)

29 Conclusion

30 Abbreviations

31 Abbreviations (cont)


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