Return To The Previous Page
Buy a Package
Number Of Visible Items Remaining : 3 Item

Diagnostic testing for patients with suspected Charcot-Marie-Tooth disease

Diagnostic testing for patients with suspected Charcot-Marie-Tooth disease
CMT is a group of common hereditary peripheral neuropathies that is typically diagnosed by a combination of clinical and electrodiagnostic features along with focused confirmatory genetic testing to identify specific CMT subtype. Adjunctive testing such as peripheral nerve imaging or biopsy may also be performed when electrodiagnostic findings are atypical or genetic testing results are nonconfirmatory.

CMT: Charcot-Marie-Tooth.

* Motor nerve conduction velocities have been associated with specific CMT subtypes. Sequential gene testing according to motor conduction velocities may help limit the number genes that need to be tested to confirm the diagnosis. Refer to UpToDate content on the diagnostic evaluation of CMT for additional details.

¶ Patients with nondiagnostic results on genetic testing for CMT (including results that identify variants of uncertain significance) may warrant additional testing such as nerve biopsy to support the clinical diagnosis of CMT. Patients with atypical presentations may warrant evaluation for other neuropathic or neuromuscular disorders. Refer to UpToDate content for additional details.
Graphic 144787 Version 1.0

Do you want to add Medilib to your home screen?