This Practical Guide will adopt a symptom-based approach allowing the clinician to reach a relevant differential diagnosis and give appropriate genetic counseling. It will also inform as to which genetic tests are available, with emphasis on understanding the value and need for such tests.
Most contemporary texts are multi-author and often lack a themed and consistent approach to the patient. The purpose of this book is not to provide an exhaustive list to all known mutations, but to guide the physician through the process of diagnosing, counseling and, if necessary, molecular genetic testing the individual with, or at risk of, a neurogenetic condition.
Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field.
Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic.
Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses.
Discusses and evaluates necessary investigations so you know when to use them and when to refer.
Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice.
Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.