An Introduction to Rare Movement Disorders Diseases
Rare diseases are characterized by low prevalence; however, their prevalence differs around the world. The European Union defines rare disorders as diseases affecting ≤50 people per 100,000 populations, while in the United States any disorder affecting ≤200,000 people is considered a rare disease.
Currently, approximately 7,000 different disorders fulfill the criteria for rare diseases, and altogether affect 6-8% of the population. This represents about 300 million people worldwide. Interestingly, a high percentage of them are genetically determined, affect children and in several cases the neurologic phenotypes are characterized by movement disorders.
The new genomics technologies (NGT) can help characterize rare diseases with movement disorders as a main symptom, to recognize variable phenotypic and genotypic expression, as well as to best understand its etiopathogenic mechanisms.
Taking into account that general neurologists, and particularly movement disorders specialists, would increasingly be confronted with the management of these patients, we need to define, identify, promote and expand the knowledge of rare disorders in the field of movement disorders.
The course “An Introduction to Rare Movement Disorders Diseases” is an opportunity for neurologists, biologists, geneticists, allied health professionals and members of the research development and technological innovation areas of the pharmaceutical companies who are interested in rare diseases with Movement Disorders as the main clinical manifestation, to learn more.
This course will instruct general neurologists on how to identify rare movement disorders diseases, use a rational approach, and recognize treatable rare movement disorders diseases. The course will also discuss the selection criteria for appropriate genetic studies and referrals to specialized centers.
Participants will attend large lectures, panel discussions with international experts, video sessions, explore new diagnosis and treatment tools (genetics techniques, clinical approach, orphan drugs, innovative technologies) and social aspects on rare disorders (organizations, management, etc.).
Other topics will include: new genetic technologies, hypokinetic and hyperkinetic rare disorders, neuro-metabolics, ataxia disorders, and social aspects of rare disorders with movement disorders.
Language of the Course
The course will be presented in Spanish with some talks presented in English. Translation services will not be available. One of the strategic goals for MDS-PAS is to introduce English lectures gradually to courses where English is not the primary language.
This course is directed toward Movement Disorder specialists, general neurologists and trainees, clinical geneticists, health allied professionals, ONG organizations and pharmaceutical companies research, development and innovative teams.
- Recognize rare movement disorders related to rare diseases
- Identify the variability of phenotype-genotype, and according with these findings, provide rational potential new therapeutic pathways
- Describe specific available treatments for rare movement disorders
- Identify new innovative technologies for rare movement disorders management and their effects on specific symptoms
- Discuss the role of research organizations in the field of rare movement disorders
- Explain the role of the neurologists in the identification and management of patients with rare movement disorders
- Employ evidence-based practice
- Utilize informatics
- Increase medical knowledge
This course will not provide Continuing Medical Education Credits (CME).
Uruguayan Medical Union Headquarters
Sindicato Medico Del Uruguay, SMU
Boulevard Artigas 1565, Montevideo, Uruguay