Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011053 (deafness)
 10,271 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Charcot-Marie-Tooth disease (CMT), also named hereditary motor and sensory neuropathies (HMSN), comprises a clinically and genetically heterogeneous group of disorders affecting the peripheral nervous system. Deafness induced by CMT is clinically distinct among the genetically heterogeneous group of CMT disorders. Deafness in CMT patients is associated with point mutations or deletions in the transmembrane domain in the peripheral myelin gene (PMP) 22, which are in close proximity to the extracellular component of this gene. We present a patient with deafness induced by CMT type 1A, undergoing cochlear implantation. Prior investigations showed good results due to replacing a synchronous impulse by means of cochlear implantation in patients with auditory neuropathy.
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PMID:Cochlear implantation in a patient with deafness induced by Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathies). 1677 60