3. Neurogenetic Disorders – (DMD, SMA, CMT, NF1) Ondemand-M03 Neurogenetic Disorders ELyon

M03 Neurogenetic Disorders ELyon

Pdf Summary

This document is a review course summary on molecular neurogenetics, specifically discussing disorders such as Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), Charcot Marie Tooth (CMT) hereditary neuropathy, and neurofibromatosis (NF1). The review provides information on the methodology used for each disorder, test performance evaluation, interpretation of test results, and testing limitations. <br /><br />For DMD, the review covers its onset, symptoms, inheritance pattern, and the structure of the dystrophin gene. It also discusses different types of mutations and the molecular testing methods used for DMD diagnosis. <br /><br />The review then moves on to SMA, providing information on its symptoms, inheritance pattern, and the genes involved (SMN1 and SMN2). It discusses the different testing methods for SMN1 deletion, as well as ethnicity-specific carrier frequencies and residual risks.<br /><br />The section on CMT hereditary neuropathy explains the different types and subtypes of the disorder, their clinical presentation, and the molecular genetic testing options available, including PMP22 deletion/duplication testing and gene panel sequencing.<br /><br />Lastly, the review discusses NF1, its diagnostic criteria, inheritance pattern, and molecular testing methods such as full gene sequencing and deletion/duplication analysis. It also includes a case study example to illustrate the interpretation of molecular test results.<br /><br />Overall, this review course provides a concise overview of the molecular aspects of neurogenetic disorders, highlighting important information about each disorder's genetics, testing methods, and clinical implications.

Keywords

molecular neurogenetics

Duchenne muscular dystrophy

spinal muscular atrophy

Charcot Marie Tooth

neurofibromatosis

test performance evaluation

interpretation of test results

molecular testing methods

CMT hereditary neuropathy

NF1