Author/Editor		Butinar, D; Starr, A
Title		Auditory neuropathy in HMSN- Lom
Type		članek
Source		Acta Myol
Vol. and No.		Letnik 20, št. Dec
Publication year		2001
Volume		str. 220-5
Language		eng
Abstract		One of the main clinical features of the autosomal recessive hereditary motor and sensory neuropathy Lom is hearing disorder. The disease is linked to the chromosome 8q24 and has recently been shown to be due to mutation in the gene for the N-myc downstream-regulated gene 1. Hearing loss is caused by neuropathy of the auditory nerve with preserved outer hair cell function (otoacoustic emissions and cochlear microphonics) and absent neural components of auditory brainstem potentials. Clinically, the hearing loss affects speech comprehension out of proportion to the pure tone loss. The vestibular component of the VIII Cranial nerve is also affected as revealed by absent caloric responses even though clinical symptoms of imbalance and vertigo are absent. Physiological and pathological studies of peripheral nerves are compatible with combined demyelination and axonal loss suggesting that both disordered synchrony of nerve conduction and the number of fibres active contribute to the clinical disorder of hearing.
Descriptors		NEUROPATHIES, HEREDITARY MOTOR AND SENSORY COCHLEAR NERVE CRANIAL NERVE DISEASES HEARING LOSS, SENSORINEURAL SPEECH DISORDERS AUDIOMETRY, PURE-TONE EVOKED POTENTIALS, AUDITORY, BRAIN STEM AUDIOMETRY, SPEECH NEURAL CONDUCTION