Course Directors

Orlando Barsottini, MD, PhD - Federal University of São Paulo, São Paulo, Brazil

Connie Marras, MD, PhD - Toronto Western Hospital, Toronto, ON, Canada

Nicolás Phielipp, MD - University of California Irvine, Irvine, CA, USA

Faculty

Paula Saffie Awad, MD - CETRAM, Santiago, Chile

Sarah Camargos, MD - Federal University of Minas Gerais, Belo Horizonte, Brazil

Darius Ebrahimi-Fakhari, MD, PhD - Boston Children’s Hospital, Harvard University, Boston, MA, USA

Emilia Gatto, MD, FAAN - Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina

Hyder (Buz) Jinnah, MD, PhD - Emory University School of Medicine, Atlanta, GA, USA

Jose Luiz Pedroso, MD, PhD - Federal University of São Paulo, São Paulo, Brazil

Liana Rosenthal, MD, PhD - Johns Hopkins School of Medicine, Baltimore, MD, USA

The primary purpose of this course is to provide education in the area of genetic nomenclature, rare diseases and ataxia as it relates to movement disorders. This course is comprised of 3 independent sessions:  

Part 1: Genetics of Movement Disorders: Nomenclature and genotype-phenotype correlations

In the last decade, knowledge of the genetic determinants of movement disorders has seen dramatic progress, with many new genetic associations uncovered each year.  In response to this and pre-existing challenges in classification of causative genes and genetic risk factors, the nomenclature has evolved.  This session will explain the latest nomenclature system with an overview across each main phenotype, and provide a more in-depth examination of genotype-phenotype correlations in dystonia and pediatric movement disorders.  

Part 2: Rare Movement Disorders/Treatable disorders

New developments in understanding the pathophysiology of rare diseases, that manifest among other symptoms with movements 

disorders, have led to offer treatment for many of these conditions. This session will review these disorders and their treatments, following a brief 1- clinical vignette, 2- pathophysiology, 3- treatment format.  

Part 3: Ataxias 

Although most patients presenting with ataxias may have a sporadic disorder, there has been continuous progress in deciphering the molecular pathogenesis of degenerative ataxias. This session will discuss the newest forms of genetic ataxias, presenting practical ways of recognizing them, and also management of rare forms of ataxias.

Registration Fees:

Member: $15 USD

Non-Member: $50 USD

No-Fee Member: $5 USD

Registration is for the entire series. Participants can register throughout the series and access past sessions on-demand. Registration closes August 8, 2022. 

*Non-members wishing to apply for MDS Membership to receive the MDS Member rate for this course will need to apply for membership no later than 2 weeks in advance of session.

To view additional details please click 'PROCEED TO COURSE'

Upon completion of this activity learners will be able to:

Part 1: Genetics of Movement Disorders: Nomenclature and genotype-phenotype correlations

1.  Demonstrate the principles of and rationale for the latest system of nomenclature of genetically determined movement disorders

2.  Know where to find the latest lists of causative genes and as yet unconfirmed associations

3.  Organize genotype-phenotype associations in dystonia and demonstrate the approach to genetic testing in dystonic disorders

4.  Distinguish genetic heterogeneity and phenotypic pleiotropy in pediatric movement disorders and plan an approach to genetic testing in children with movement disorders

Part 2: Rare Movement Disorders/Treatable disorders

1.  Identify treatable inherited rare disorders phenomenology/phenotype

2.  Define basic pathophysiology of treatable inherited rare disorders

3.  Evaluate which treatments may be available for these disorders

Part 3: Ataxias

1.  Summarize the diagnostic approach to patient with congenital, recessive and dominant ataxias

2.  Recognize clinical clues and plan diagnostic workup and management of patients with rare ataxia syndromes