| DNM2-related intermediate Charcot-Marie-Tooth neuropathy |
| Geno
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Mag
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Summary
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| (C;T)
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6
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DNM2-related intermediate Charcot-Marie-Tooth neuropathy
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| (T;T)
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0
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common in clinvar
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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.
