Adult Onset Tay-Sachs Disease Description, Case Study and Family Education

1. Kerry Levy-Johnson
Brandman University
Genetics

2. 
 Who is affected?
 Signs of Adult Onset Tay-Sachs Disease (LOTS)
 Autosomal Recessive Disease
 How does LOTS effects a person’s life?
Background

3. 
Clinical Presentation &
Case Study
 Subject of the case
study (MARK).
 Mark’s long road to
diagnosis
 Concerning signs and
symptoms
 Mark’s Social History
 Mark’s Family History
 Physical Exam
 Initial Diagnosis

4. 
 Seoond Opinion
 Full Medical History
 New Diagnosis
Clinical Presentation &
Case Study

5. 
 Comorbidities
 Treatments
 Mark’s Plan of Care
 Speech
 Employment
 Environment
Treatment Plan Of Care

6. 
 Support Groups
 Management
 Education
 Genetics Counseling
Family Care &
Education

7. 
 Freedman, J. (2010). Genes & Disease Tay-Sachs Disease. New
York, New York: Chelsea House.
 Late Onset Tay-Sachs Disease. (2011). Retrieved June 20, 2015,
from http://lateonsettay-sachs.org/
 Late-onset Tay-Sachs disease: Phenotypic characterization and
genotypic correlations in 21 affected patients. (2013).
Retrieved June 20, 2015, from http://www.nature.com/
gim/journal/v7/n2/abs/gim200521a.html
 Selah, O. (2012). Late Onset Tay Sachs Disease Presenting As A
Brief Psychotic Disorder With Catatonia: A Case Review
and Literature. Retrieved June 17, 2015, from http://
jdc.jefferson.edu/cgi/viewcontent.cgi?
article=1425&context=jeffjpsychiatry
References