Purpose Of Review: To report the findings in 12 members over 3 generations of a family with dominantly inherited Charcot-Marie-Tooth disease (CMT1B) due to a novel mutation, who all had moderately severe selective impairment of vestibular function with normal hearing. Methods used were video head impulse testing of the function of all 6 semicircular canals, Romberg test on foam, nerve conduction studies, and whole exome and Sanger sequencing.
Recent Findings: All affected patients had a demyelinating neuropathy and a novel mutation: c.362A>G (chr1: 161276584, p.D121G). All also had normal hearing for age but a moderately severe impairment of semicircular canal function and a positive Romberg test on foam.
Summary: Some CMT mutations can impair vestibular function, presumably because of a vestibular nerve involvement but spare hearing. In such patients, impairment of vestibular function and impairment of proprioception contribute to imbalance.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8032420 | PMC |
| http://dx.doi.org/10.1212/CPJ.0000000000000930 | DOI Listing |
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