Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909093(A;G)

From SNPedia
DNM2-related intermediate Charcot-Marie-Tooth neuropathy
Is agenotype
ofrs121909093
GeneDNM2
Chromosome19
Position10,812,315
mentionedby
Magnitude6
ReputeBad
Geno Mag Summary
(A;G) 6 DNM2-related intermediate Charcot-Marie-Tooth neuropathy
(G;G) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy (DI-CMTB) has a classic, mild to moderately severe Charcot-Marie-Tooth hereditary neuropathy phenotype that often includes pes cavus foot deformity (high instep), depressed tendon reflexes, distal muscle weakness and atrophy, and sensory loss.
  • The following evaluations are recommended for those diagnosed with DI-CMTB: neurological examination; electrophysiological studies to establish a baseline; complete blood count with absolute neutrophil count (to evaluate for neutropenia); ophthalmologic examination for cataract; and consultation with a medical geneticist and/or genetic counselor.
  • Physical therapies such as stretching and exercise are recommended to prevent secondary complications.
  • Surveillance includes regular evaluation by a multidisciplinary team to determine neurologic status and function disability.
  • Medications that are toxic or potentially toxic to persons with CMT include vincristine, paclitaxel and succinylcholine.

The full ClinGen Actionability report about DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.