Genetic testing in neuromuscular disease

Karen M Krajewski; Michael E Shy

doi:10.1016/j.ncl.2004.03.003

Genetic testing in neuromuscular disease

Neurol Clin. 2004 Aug;22(3):481-508, v. doi: 10.1016/j.ncl.2004.03.003.

Authors

Karen M Krajewski¹, Michael E Shy

Affiliation

¹ Wayne State University School of Medicine, Detroit, MI 48201, USA. kmkrajew@med.wayne.edu

PMID: 15207873
DOI: 10.1016/j.ncl.2004.03.003

Abstract

With the completion of the human genome, the availability of genetic testing is becoming widespread at a rapid pace. Testing for rare neurologic conditions often is possible. With the availability of this testing, it becomes necessary for the physician to be able to determine the potential benefits of testing and when and what testing is warranted. Understanding testing methods,interpreting complex results, and dealing with the ethical, social,and personal issues that arise for patients and families is critical for their care.

MeSH terms

DNA Mutational Analysis
Ethics, Medical
Genetic Counseling / ethics
Genetic Predisposition to Disease / classification
Genetic Predisposition to Disease / genetics
Genetic Testing* / ethics
Humans
Molecular Diagnostic Techniques* / ethics
Neuromuscular Diseases / diagnosis
Neuromuscular Diseases / genetics*
Syndrome