Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.

A general term for the complete or partial loss of the ability to hear from one or both ears.

Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.

Part of an ear examination that measures the ability of sound to reach the brain.

Partial hearing loss in both ears.

Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.

Wearable sound-amplifying devices that are intended to compensate for impaired hearing. These generic devices include air-conduction hearing aids and bone-conduction hearing aids. (UMDNS, 1999)

The ability or act of sensing and transducing ACOUSTIC STIMULATION to the CENTRAL NERVOUS SYSTEM. It is also called audition.

Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.

The testing of the acuity of the sense of hearing to determine the thresholds of the lowest intensity levels at which an individual can hear a set of tones. The frequencies between 125 and 8000 Hz are used to test air conduction thresholds and the frequencies between 250 and 4000 Hz are used to test bone conduction thresholds.

Hearing loss in frequencies above 1000 hertz.

Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.

Measurement of hearing based on the use of pure tones of various frequencies and intensities as auditory stimuli.

A general term for the complete loss of the ability to hear from both ears.

Partial or complete hearing loss in one ear.

The part of the inner ear (LABYRINTH) that is concerned with hearing. It forms the anterior part of the labyrinth, as a snail-like structure that is situated almost horizontally anterior to the VESTIBULAR LABYRINTH.

Electrical waves in the CEREBRAL CORTEX generated by BRAIN STEM structures in response to auditory click stimuli. These are found to be abnormal in many patients with CEREBELLOPONTINE ANGLE lesions, MULTIPLE SCLEROSIS, or other DEMYELINATING DISEASES.

Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies.

Persons with any degree of loss of hearing that has an impact on their activities of daily living or that requires special assistance or intervention.

Noise present in occupational, industrial, and factory situations.

The essential part of the hearing organ consists of two labyrinthine compartments: the bony labyrinthine and the membranous labyrinth. The bony labyrinth is a complex of three interconnecting cavities or spaces (COCHLEA; VESTIBULAR LABYRINTH; and SEMICIRCULAR CANALS) in the TEMPORAL BONE. Within the bony labyrinth lies the membranous labyrinth which is a complex of sacs and tubules (COCHLEAR DUCT; SACCULE AND UTRICLE; and SEMICIRCULAR DUCTS) forming a continuous space enclosed by EPITHELIUM and connective tissue. These spaces are filled with LABYRINTHINE FLUIDS of various compositions.

The audibility limit of discriminating sound intensity and pitch.

Self-generated faint acoustic signals from the inner ear (COCHLEA) without external stimulation. These faint signals can be recorded in the EAR CANAL and are indications of active OUTER AUDITORY HAIR CELLS. Spontaneous otoacoustic emissions are found in all classes of land vertebrates.

Personal devices for protection of the ears from loud or high intensity noise, water, or cold. These include earmuffs and earplugs.

Any sound which is unwanted or interferes with HEARING other sounds.

A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions.

A form of electrophysiologic audiometry in which an analog computer is included in the circuit to average out ongoing or spontaneous brain wave activity. A characteristic pattern of response to a sound stimulus may then become evident. Evoked response audiometry is known also as electric response audiometry.

Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders.

Objective tests of middle ear function based on the difficulty (impedance) or ease (admittance) of sound flow through the middle ear. These include static impedance and dynamic impedance (i.e., tympanometry and impedance tests in conjunction with intra-aural muscle reflex elicitation). This term is used also for various components of impedance and admittance (e.g., compliance, conductance, reactance, resistance, susceptance).

Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS).

Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.

Transmission of sound waves through vibration of bones in the SKULL to the inner ear (COCHLEA). By using bone conduction stimulation and by bypassing any OUTER EAR or MIDDLE EAR abnormalities, hearing thresholds of the cochlea can be determined. Bone conduction hearing differs from normal hearing which is based on air conduction stimulation via the EAR CANAL and the TYMPANIC MEMBRANE.

Either of a pair of compound bones forming the lateral (left and right) surfaces and base of the skull which contains the organs of hearing. It is a large bone formed by the fusion of parts: the squamous (the flattened anterior-superior part), the tympanic (the curved anterior-inferior part), the mastoid (the irregular posterior portion), and the petrous (the part at the base of the skull).

A small bony canal linking the vestibule of the inner ear to the posterior part of the internal surface of the petrous TEMPORAL BONE. It transmits the endolymphatic duct and two small blood vessels.

Sensory cells in the organ of Corti, characterized by their apical stereocilia (hair-like projections). The inner and outer hair cells, as defined by their proximity to the core of spongy bone (the modiolus), change morphologically along the COCHLEA. Towards the cochlear apex, the length of hair cell bodies and their apical STEREOCILIA increase, allowing differential responses to various frequencies of sound.

Procedures for correcting HEARING DISORDERS.

The sensory ganglion of the COCHLEAR NERVE. The cells of the spiral ganglion send fibers peripherally to the cochlear hair cells and centrally to the COCHLEAR NUCLEI of the BRAIN STEM.

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes).

The cochlear part of the 8th cranial nerve (VESTIBULOCOCHLEAR NERVE). The cochlear nerve fibers originate from neurons of the SPIRAL GANGLION and project peripherally to cochlear hair cells and centrally to the cochlear nuclei (COCHLEAR NUCLEUS) of the BRAIN STEM. They mediate the sense of hearing.

The study of hearing and hearing impairment.

Surgical insertion of an electronic hearing device (COCHLEAR IMPLANTS) with electrodes to the COCHLEAR NERVE in the inner ear to create sound sensation in patients with residual nerve fibers.

A characteristic symptom complex.

Use of sound to elicit a response in the nervous system.

The spiral EPITHELIUM containing sensory AUDITORY HAIR CELLS and supporting cells in the cochlea. Organ of Corti, situated on the BASILAR MEMBRANE and overlaid by a gelatinous TECTORIAL MEMBRANE, converts sound-induced mechanical waves to neural impulses to the brain.

An oval semitransparent membrane separating the external EAR CANAL from the tympanic cavity (EAR, MIDDLE). It contains three layers: the skin of the external ear canal; the core of radially and circularly arranged collagen fibers; and the MUCOSA of the middle ear.

The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.

The space and structures directly internal to the TYMPANIC MEMBRANE and external to the inner ear (LABYRINTH). Its major components include the AUDITORY OSSICLES and the EUSTACHIAN TUBE that connects the cavity of middle ear (tympanic cavity) to the upper part of the throat.

The teaching or training of those individuals with hearing disability or impairment.

A group of homologous proteins which form the intermembrane channels of GAP JUNCTIONS. The connexins are the products of an identified gene family which has both highly conserved and highly divergent regions. The variety contributes to the wide range of functional properties of gap junctions.

Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear.

A disease of the inner ear (LABYRINTH) that is characterized by fluctuating SENSORINEURAL HEARING LOSS; TINNITUS; episodic VERTIGO; and aural fullness. It is the most common form of endolymphatic hydrops.

Fenestra of the cochlea, an opening in the basal wall between the MIDDLE EAR and the INNER EAR, leading to the cochlea. It is closed by a secondary tympanic membrane.

Genes that influence the PHENOTYPE only in the homozygous state.

A test to determine the lowest sound intensity level at which fifty percent or more of the spondaic test words (words of two syllables having equal stress) are repeated correctly.

Measurement of the ability to hear speech under various conditions of intensity and noise interference using sound-field as well as earphones and bone oscillators.

Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.

Examination of the EAR CANAL and eardrum with an OTOSCOPE.

Ability to make speech sounds that are recognizable.

Tests of the ability to hear and understand speech as determined by scoring the number of words in a word list repeated correctly.

Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS.

Sensory cells of organ of Corti. In mammals, they are usually arranged in three or four rows, and away from the core of spongy bone (the modiolus), lateral to the INNER AUDITORY HAIR CELLS and other supporting structures. Their cell bodies and STEREOCILIA increase in length from the cochlear base toward the apex and laterally across the rows, allowing differential responses to various frequencies of sound.

Inflammation of the inner ear (LABYRINTH).

A layer of stratified EPITHELIUM forming the endolymphatic border of the cochlear duct at the lateral wall of the cochlea. Stria vascularis contains primarily three cell types (marginal, intermediate, and basal), and capillaries. The marginal cells directly facing the ENDOLYMPH are important in producing ion gradients and endochoclear potential.

An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)

Pathological processes of the ear, the hearing, and the equilibrium system of the body.

Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.

Auditory sensory cells of organ of Corti, usually placed in one row medially to the core of spongy bone (the modiolus). Inner hair cells are in fewer numbers than the OUTER AUDITORY HAIR CELLS, and their STEREOCILIA are approximately twice as thick as those of the outer hair cells.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

The magnitude of INBREEDING in humans.

The interference of one perceptual stimulus with another causing a decrease or lessening in perceptual effectiveness.

A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)

Electronic hearing devices typically used for patients with normal outer and middle ear function, but defective inner ear function. In the COCHLEA, the hair cells (HAIR CELLS, VESTIBULAR) may be absent or damaged but there are residual nerve fibers. The device electrically stimulates the COCHLEAR NERVE to create sound sensation.

A spiral tube that is firmly suspended in the bony shell-shaped part of the cochlea. This ENDOLYMPH-filled cochlear duct begins at the vestibule and makes 2.5 turns around a core of spongy bone (the modiolus) thus dividing the PERILYMPH-filled spiral canal into two channels, the SCALA VESTIBULI and the SCALA TYMPANI.

Biochemical identification of mutational changes in a nucleotide sequence.

The process whereby auditory stimuli are selected, organized, and interpreted by the organism.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

The electric response evoked in the CEREBRAL CORTEX by ACOUSTIC STIMULATION or stimulation of the AUDITORY PATHWAYS.

The graphic registration of the frequency and intensity of sounds, such as speech, infant crying, and animal vocalizations.

Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH).

The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.

An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition.

The science or study of speech sounds and their production, transmission, and reception, and their analysis, classification, and transcription. (Random House Unabridged Dictionary, 2d ed)

Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.

A number of tests used to determine if the brain or balance portion of the inner ear are causing dizziness.

Inflammation of the middle ear with a clear pale yellow-colored transudate.

NEURAL PATHWAYS and connections within the CENTRAL NERVOUS SYSTEM, beginning at the hair cells of the ORGAN OF CORTI, continuing along the eighth cranial nerve, and terminating at the AUDITORY CORTEX.

Surgery performed on the external, middle, or internal ear.

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

A genus of the family Chinchillidae which consists of three species: C. brevicaudata, C. lanigera, and C. villidera. They are used extensively in biomedical research.

The dense rock-like part of temporal bone that contains the INNER EAR. Petrous bone is located at the base of the skull. Sometimes it is combined with the MASTOID PROCESS and called petromastoid part of temporal bone.

A surgical specialty concerned with the study and treatment of disorders of the ear, nose, and throat.

Sound that expresses emotion through rhythm, melody, and harmony.

A continuing periodic change in displacement with respect to a fixed reference. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)

An oval, bony chamber of the inner ear, part of the bony labyrinth. It is continuous with bony COCHLEA anteriorly, and SEMICIRCULAR CANALS posteriorly. The vestibule contains two communicating sacs (utricle and saccule) of the balancing apparatus. The oval window on its lateral wall is occupied by the base of the STAPES of the MIDDLE EAR.

The fitting and adjusting of artificial parts of the body. (From Stedman's, 26th ed)

Surgery performed in which part of the STAPES, a bone in the middle ear, is removed and a prosthesis is placed to help transmit sound between the middle ear and inner ear.

An implant used to replace one or more of the ear ossicles. They are usually made of plastic, Gelfoam, ceramic, or stainless steel.

The acoustic aspects of speech in terms of frequency, intensity, and time.

A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.

A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.

The science pertaining to the interrelationship of psychologic phenomena and the individual's response to the physical properties of sound.

The 8th cranial nerve. The vestibulocochlear nerve has a cochlear part (COCHLEAR NERVE) which is concerned with hearing and a vestibular part (VESTIBULAR NERVE) which mediates the sense of balance and head position. The fibers of the cochlear nerve originate from neurons of the SPIRAL GANGLION and project to the cochlear nuclei (COCHLEAR NUCLEUS). The fibers of the vestibular nerve arise from neurons of Scarpa's ganglion and project to the VESTIBULAR NUCLEI.

A form of pneumoconiosis resulting from inhalation of iron in the mining dust or welding fumes.

Portable electronics device for storing and playing audio and or media files. MP3 for MPEG-1 audio layer 3, is a digital coding format.

An infant during the first month after birth.

A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.

Any method used for determining the location of and relative distances between genes on a chromosome.

The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."

The exposure to potentially harmful chemical, physical, or biological agents that occurs as a result of one's occupation.

Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE.

Diseases caused by factors involved in one's employment.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

A family of delayed rectifier voltage-gated potassium channels that share homology with their founding member, KCNQ1 PROTEIN. KCNQ potassium channels have been implicated in a variety of diseases including LONG QT SYNDROME; DEAFNESS; and EPILEPSY.

A system of hand gestures used for communication by the deaf or by people speaking different languages.

A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)

Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.

An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity.

An individual in which both alleles at a given locus are identical.

The blind pouch at the end of the endolymphatic duct. It is a storage reservoir for excess ENDOLYMPH, formed by the blood vessels in the membranous labyrinth.

The region of the cerebral cortex that receives the auditory radiation from the MEDIAL GENICULATE BODY.

Glycosylated compounds in which there is an amino substituent on the glycoside. Some of them are clinically important ANTIBIOTICS.

Inflammation of the middle ear with purulent discharge.

Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.

Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.

Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS.

Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.

A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.

Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).

A transfer RNA which is specific for carrying serine to sites on the ribosomes in preparation for protein synthesis.

A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss.

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

An individual having different alleles at one or more loci regarding a specific character.

A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.

Pain in the ear.

Inflammation of the honeycomb-like MASTOID BONE in the skull just behind the ear. It is usually a complication of OTITIS MEDIA.

A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.

Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.

The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.

Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots.

That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.

Ability to determine the specific location of a sound source.

The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.

The perceived attribute of a sound which corresponds to the physical attribute of intensity.

Recording of nystagmus based on changes in the electrical field surrounding the eye produced by the difference in potential between the cornea and the retina.

A dimension of auditory sensation varying with cycles per second of the sound stimulus.

A mobile chain of three small bones (INCUS; MALLEUS; STAPES) in the TYMPANIC CAVITY between the TYMPANIC MEMBRANE and the oval window on the wall of INNER EAR. Sound waves are converted to vibration by the tympanic membrane then transmitted via these ear ossicles to the inner ear.

The electric response of the cochlear hair cells to acoustic stimulation.

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Mechanosensing organelles of hair cells which respond to fluid motion or fluid pressure changes. They have various functions in many different animals, but are primarily used in hearing.

A temporary or persistent opening in the eardrum (TYMPANIC MEMBRANE). Clinical signs depend on the size, location, and associated pathological condition.

A subfamily of the Muridae consisting of several genera including Gerbillus, Rhombomys, Tatera, Meriones, and Psammomys.

One of the three ossicles of the middle ear. It transmits sound vibrations from the INCUS to the internal ear (Ear, Internal see LABYRINTH).

Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.

A histamine analog and H1 receptor agonist that serves as a vasodilator. It is used in MENIERE DISEASE and in vascular headaches but may exacerbate bronchial asthma and peptic ulcers.

A type of non-ionizing radiation in which energy is transmitted through solid, liquid, or gas as compression waves. Sound (acoustic or sonic) radiation with frequencies above the audible range is classified as ultrasonic. Sound radiation below the audible range is classified as infrasonic.

The infiltrating of histological specimens with plastics, including acrylic resins, epoxy resins and polyethylene glycol, for support of the tissues in preparation for sectioning with a microtome.

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.

An institute of the CENTERS FOR DISEASE CONTROL AND PREVENTION which is responsible for assuring safe and healthful working conditions and for developing standards of safety and health. Research activities are carried out pertinent to these goals.

Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.

The gradual expansion in complexity and meaning of symbols and sounds as perceived and interpreted by the individual through a maturational and learning process. Stages in development include babbling, cooing, word imitation with cognition, and use of short sentences.

An office in the Department of Labor responsible for developing and establishing occupational safety and health standards.

A drug used in the management of peripheral and cerebral vascular disorders. It is claimed to enhance cellular oxidative capacity and to be a spasmolytic. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1310) It may also be an antagonist at 5HT-2 serotonin receptors.

Surgical reconstruction of the hearing mechanism of the middle ear, with restoration of the drum membrane to protect the round window from sound pressure, and establishment of ossicular continuity between the tympanic membrane and the oval window. (Dorland, 28th ed.)

The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.

Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation.

Elements of limited time intervals, contributing to particular results or situations.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

Standards for limiting worker exposure to airborne contaminants. They are the maximum concentration in air at which it is believed that a particular substance will not produce adverse health effects with repeated daily exposure. It can be a time-weighted average (TLV-TWA), a short-term value (TLV-STEL), or an instantaneous value (TLV-Ceiling). They are expressed either as parts per million (ppm) or milligram per cubic meter (mg/m3).

A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).

Cells forming a framework supporting the sensory AUDITORY HAIR CELLS in the organ of Corti. Lateral to the medial inner hair cells, there are inner pillar cells, outer pillar cells, Deiters cells, Hensens cells, Claudius cells, Boettchers cells, and others.

Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.

Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).

The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.

Tumors or cancer of any part of the hearing and equilibrium system of the body (the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR).

Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.

Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).

A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.

The lymph fluid found in the membranous labyrinth of the ear. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)

Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

Two membranous sacs within the vestibular labyrinth of the INNER EAR. The saccule communicates with COCHLEAR DUCT through the ductus reuniens, and communicates with utricle through the utriculosaccular duct from which the ENDOLYMPHATIC DUCT arises. The utricle and saccule have sensory areas (acoustic maculae) which are innervated by the VESTIBULAR NERVE.

Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.

Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.

Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.

The brain stem nucleus that receives the central input from the cochlear nerve. The cochlear nucleus is located lateral and dorsolateral to the inferior cerebellar peduncles and is functionally divided into dorsal and ventral parts. It is tonotopically organized, performs the first stage of central auditory processing, and projects (directly or indirectly) to higher auditory areas including the superior olivary nuclei, the medial geniculi, the inferior colliculi, and the auditory cortex.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

The yellow or brown waxy secretions produced by vestigial apocrine sweat glands in the external ear canal.

A membrane, attached to the bony SPIRAL LAMINA, overlying and coupling with the hair cells of the ORGAN OF CORTI in the inner ear. It is a glycoprotein-rich keratin-like layer containing fibrils embedded in a dense amorphous substance.

The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.

Aquatic vertebrate sensory system in fish and amphibians. It is composed of sense organs (canal organs and pit organs) containing neuromasts (MECHANORECEPTORS) that detect water displacement caused by moving objects.

Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

A POU domain factor that activates neuronal cell GENETIC TRANSCRIPTION of GENES encoding NEUROFILAMENT PROTEINS, alpha internexin, and SYNAPTOSOMAL-ASSOCIATED PROTEIN 25. Mutations in the Brn-3c gene have been associated with DEAFNESS.

An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.