This document discusses a case study of a man named Mark who was diagnosed with Late Onset Tay-Sachs Disease (LOTS). It describes Mark's journey to diagnosis, which involved concerning symptoms but an initially missed diagnosis. After a second opinion and full medical history review, Mark received a diagnosis of LOTS. The document then outlines Mark's treatment plan and care, which focuses on managing comorbidities through speech therapy, employment assistance, and education for Mark and his family on genetics counseling and support groups.

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