International Journal of Nutrition, Pharmacology, Neurological Diseases

CASE REPORT
Year
: 2016  |  Volume : 6  |  Issue : 3  |  Page : 133--135

Need for interprofessional collaborative practice: Lafora disease


Melba Sheila D'Souza, Anandhi Amirthraj 
 Department of Adult Health and Critical Care, College of Nursing, Sultan Qaboos University, Muscat, Sultanate of Oman

Correspondence Address:
Dr. Melba Sheila D«SQ»Souza
College of Nursing, Sultan Qaboos University, P. O. Box: 66, Muscat
Sultanate of Oman

A 19-year adolescent presented to a specialist hospital with a 5-year history of Lafora disease (LD) or progressive myoclonic epilepsy. LD (EPM2) resulting from a homozygous missense mutation in EPM2B (NHLRC1) was confirmed. Symptomatic management was done using conventional anti- epileptics and anti-myoclonics. Understanding the nature of prenatal screening and genetic alliance are an important for advocating genetic testing and genetic counseling. This framework is necessary for a transdisciplinary, preventive genetic services, and likely gene therapy.


How to cite this article:
D'Souza MS, Amirthraj A. Need for interprofessional collaborative practice: Lafora disease.Int J Nutr Pharmacol Neurol Dis 2016;6:133-135


How to cite this URL:
D'Souza MS, Amirthraj A. Need for interprofessional collaborative practice: Lafora disease. Int J Nutr Pharmacol Neurol Dis [serial online] 2016 [cited 2020 Oct 31 ];6:133-135
Available from: https://www.ijnpnd.com/article.asp?issn=2231-0738;year=2016;volume=6;issue=3;spage=133;epage=135;aulast=D%27Souza;type=0