Veidlapa Nr. M-3 (8)

Study Course Description

Neurology

Main Study Course Information

Course Code

RGN_028

Branch of Science

Clinical medicine

ECTS

6.00

Target Audience

Medicine

LQF

Level 8

Study Course Implementer

Course Supervisor

Madara Rēdele

Residency Speciality

Speciality

Medical Geneticist

Supervisor of Medical Speciality

Madara Rēdele

Contacts

About Study Course

Objective

To introduce the medical genetics resident to the most common problems encountered in the neurology clinic, differential diagnosis and treatment options for the most common neurological diseases.

Learning Outcomes

Knowledge

1.Knowledge of: - the structure of the nervous system, the most characteristic symptoms of each group of pathologies – motor neuron diseases, primary muscle diseases, polyneuropathy, neurodegenerative pathologies, etc. -Genetic aspects of trinucleotide repeat diseases and clinical presentation of the disease. -Inherited dementias, their differential diagnosis. - Classification and molecular basis of neuromuscular diseases.

Skills

1.-Collect clinical and family history. -Performs a basic neurological examination of the patient in order to be able to create a working hypothesis. -Able to treat the results of neurophysiological examinations, imaging diagnostics and laboratory examinations.

Competences

1.After successful completion of the study course, the medical genetics resident achieves the mandatory competence. 1. Recognizes a family history that suggests an inherited neurological disease. 2. Able to recognize clinical signs in sick persons. 3. Able to develop a differential diagnosis and prepare an appropriate genetic examination plan. 4. Apply international guidelines and protocols for testing presymptomatic patients for neurodegenerative diseases. 5. Able to make timely and appropriate onward referral of patients to specialists, neurologists, psychologists, psychotherapists, physical rehabilitation specialists, etc.

Assessment

Individual work

Title	% from total grade	Grade
1. Individual work	-	-
Search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases. Using evidence-based databases of scientific literature, create an individualized description of the disease for patients with syndromic - monogenic, chromosomal or inherited pathology.

Examination

Title	% from total grade	Grade
1. Examination	-	-
The teacher at the end of the cycle: 1. Evaluates the practical skills of the medical genetics resident using a 10-point system, recording the evaluation in the resident's book. 2. The theoretical knowledge of a medical genetics resident is evaluated in a 10-point system after a written test - a multiple-choice test, with the evaluation recorded in the resident's book.

Study Course Theme Plan

FULL-TIME

Part 1

Seminar

Modality	Location
-	-

Topics

Neuromuscular diseases. ALS. Differential diagnosis. Genetic investigation

Seminar

Modality	Location
-	-

Topics

Classification and diagnosis of neuromuscular diseases

Seminar

Modality	Location
-	-

Topics

Motor neuron diseases. Hereditary muscle diseases

Seminar

Modality	Location
-	-

Topics

Diseases of muscle ion channels

Seminar

Modality	Location
-	-

Topics

Diseases of the neuromuscular synapse

Seminar

Modality	Location
-	-

Topics

Current affairs of neuroimmunology

Seminar

Modality	Location
-	-

Topics

Immunological disorders in adulthood and indications for additional genetic examinations

Total ECTS (Creditpoints):

6.00

Number of Residency Seminars:

Length (weeks):

Final Examination:

Residency exam (Theory and practice)

Bibliography

Required Reading

Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. https://doi.org/10.1016/b978-0-12-815236-2.00001-1, 2022

Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment https://doi.org/10.1002/9781444314342, 2010

Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics. https://doi.org/10.1016/C2016-0-05333-0, 2018

Harper, J. C.. Preimplantation genetic diagnosis, 2nd Edition. In Preimplantation Genetic Diagnosis. https://doi.org/10.1017/CBO9780511581571, 2009

DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges. https://doi.org/10.1002/9780470696262, 2010

Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015

Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018

Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015

Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011

10.

Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010

11.

Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007

12.

Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021

13.

Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020

14.

Reardson, W. The Bedside Dysmorhologist. Oxford, 2016

15.

Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013

16.

Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier.2017

17.

Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016

18.

Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016

19.

Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2.Springer, 2014

20.

Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019

21.

Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017

Other Information Sources

OMIM.https://omim.org

Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/

Orphanet. https://www.orpha.net/consor/cgi-bin/index.php

Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer

Varsome. https://varsome.com/

Reprotox. https://www.reprotox.org/

Metagene. https://www.metagene.de/

Vademecum Metabolicum. http://www.vademetab.org/

Metabolic Emergency Protocol. https://www.emergencyprotocol.net/

10.

NDC. https://neuromuscular.wustl.edu/

11.

Treat NMD. https://treat-nmd.org/

12.

NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503