Hereditary sensorineural hearing loss can be syndromic or nonsyndromic. Genetic causes of hearing loss must be distinguished from acquired causes for purposes of genetic counseling. Next-generation sequencing (NGS) panels are now used widely in clinical settings to try to identify genetic causes of hearing loss.
A woman in her 40s was initially referred to our neuromuscular clinic for polyneuropathy and hearing loss. On examination, she was inappropriately happy and indifferent. Her neurologic examination was notable for clinically significant sensory loss to pinprick, vibration, and position sensation distally in the upper and lower extremities and symmetric hyporeflexia. A nerve conduction study showed severe sensory neuropathy, with absent potentials in upper and lower extremity. Common causes of neuropathy, such as inflammatory, vitamin deficiencies, diabetes mellitus, alcoholism, and paraneoplastic and immune-mediated causes, were considered and excluded by appropriate studies.
Kinariwala D, Yu J, Dhamija R. A Patient With DNMT1 Gene Mutation Presenting With Polyneuropathy, Hearing Loss, and Personality Changes. JAMA Otolaryngol Head Neck Surg. 2016;142(2):193-194. doi:10.1001/jamaoto.2015.3137