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Familial Progressive Vestibulocochlear Dysfunction


Presentation

  • X's indicate examined; arrow, present patient.[doi.org]
  • In the family, phenotypic variability is present.[ncbi.nlm.nih.gov]
  • Oscillopsia or blurred vision while reading, in lateral gaze, or with head motion can be a presenting complaint (1012,1013).[neuroophthalmology.ca]
  • It is present at birth and is non-progressive.[chargesyndrome.org.uk]
  • These are only used for the purpose of ruling out diseases with similar presentations. Whipple disease, for example, has a similar presentation and can be diagnosed using polymerase chain reaction.[eyewiki.aao.org]
Weakness
  • Huygen PLMNicolasen MGMVerhagen WIMTheunissen EJJM Contralateral hyperactive caloric responses in unilateral labyrinthine weakness. Acta Otolaryngol (Stockh). 1989;1071- 4 Google Scholar Crossref[doi.org]
  • This type of weakness may be noticed when climbing stairs, arising from a deep chair, brushing the hair, or lifting an object. Facial weakness results in drooling and in difficulty in whistling.[britannica.com]
  • , atrophy, cramps, and muscle twitching, as well as flaccid paralysis with loss of movement, tone, and reflex activity Lower motor neuron dysfunction symptoms - Seen in ALS - Focal weakness - Multifocal weakness - Muscle atrophy - Muscle cramps - Muscle[quizlet.com]
  • When the motor neurons can no longer send impulses to the muscles, the muscles begin to waste away (atrophy), causing increased muscle weakness.[hopkinsmedicine.org]
  • In other words, we are suggesting that perhaps the VHIT test is confounding eye movement weakness with vestibular weakness.[tchain.com]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • A physician will guide you through the process to determine the cause of your baby’s hearing loss. The process begins by the physician reviewing your family history, your baby’s birth history, and an examination of your child.[dallashear.com]
  • One of the most common and frustrating complaints patients bring to their family physicians is dizziness.[aafp.org]
  • Beth - Lynchburg, VA Evaluations and treatments are designed to promote optimal function and safe mobility, including: Evaluation of the balance system, posture, & motor movement planning Collaboration with physicians who specialize in rehabilitative[centrahealth.com]
Asymptomatic
  • RESULTS: A 50-year-old man had had progressive sensorineural hearing loss and dysequilibrium for 15 years; he had been asymptomatic at the age of 35 years.[ncbi.nlm.nih.gov]
  • Results A 50-year-old man had had progressive sensorineural hearing loss and dysequilibrium for 15 years; he had been asymptomatic at the age of 35 years.[doi.org]
  • The risk factors for the tumor include the presence of NF2 and a positive family history of schwannoma Vestibular Schwannomas may be symptomatic or asymptomatic.[dovemed.com]
  • Type I ACM which is asymptomatic or with only mild dysfunction can be observed without treatment. Posterior fossa decompression via a number of approaches is used for symptomatic ACM, with shunting when hydrocephalus is present.[neuroophthalmology.ca]
  • Vestibular evoked myogenic potentials (VEMP) can detect asymptomatic saccular hydrops. Laryngoscope (2006) 116 (6):987–92. doi:10.1097/01.mlg.0000216815.75512.03 PubMed Abstract CrossRef Full Text Google Scholar 39.[frontiersin.org]
Nausea
  • Initially, nausea and vomiting were present. During these episodes, he did not experience more pronounced hearing impairment or tinnitus.[doi.org]
  • When affected, these organs can lead to vertigo and nausea because the body would always feel off-balance.[en.wikipedia.org]
  • He suffered from instability in the dark, head movement-dependent oscillopsia, paroxysmal positional vertigo, and vertigo with and without nausea. Hearing impairment started unilaterally, predominantly in the high frequencies.[ncbi.nlm.nih.gov]
  • Patients with migrainous vertigo may experience other symptoms related to the migraine, including a typical headache (often throbbing, unilateral, sometimes preceded by an aura), nausea, vomiting, photophobia, and phonophobia.[aafp.org]
  • […] chronic or acute onset (as early as one to three days) and may include: Difficulty in low-light areas Difficulty walking over carpet or unleveled surfaces Disequilibrium Dizziness Ear fullness Ear ringing Imbalance Light-headedness Motion sensitivity Nausea[centrahealth.com]
Vomiting
  • Reported symptoms include: Sensorineural hearing loss Vestibular areflexia Hearing impairment Vertigo Nausea and vomiting Head movement-dependent oscillopsia The disease is an inherited autosomal dominant disease, but the physiological cause of the dysfunction[en.wikipedia.org]
  • Initially, nausea and vomiting were present. During these episodes, he did not experience more pronounced hearing impairment or tinnitus.[doi.org]
  • Patients with migrainous vertigo may experience other symptoms related to the migraine, including a typical headache (often throbbing, unilateral, sometimes preceded by an aura), nausea, vomiting, photophobia, and phonophobia.[aafp.org]
  • Migraine headaches are extremely painful recurring headaches that are sometimes accompanied by nausea and vomiting; most migraine sufferers have a family history of the disorder.[britannica.com]
  • Verstreken et al 6 reported a large DFNA9 family where, apart from hearing loss and vestibular dysfunction, 25% of the carriers of the COCH mutation suffered from recurrent episodes of dizziness, associated with tinnitus, aural fullness, nausea, and vomiting[nature.com]
Blurred Vision
  • Patients report feelings of vague dissiness, blurred vision, dysequilibrium in the dark, and progressive hearing impairment.[en.wikipedia.org]
  • SEVERAL YEARS ago, we described a family with autosomal dominant progressive vestibulocochlear dysfunction resulting in sensorineural hearing loss and vestibular areflexia. 1, 2 The patients reported vague dizziness, blurred vision, dysequilibrium in[doi.org]
  • vision - Nystagmus - Ocular pain - Sudden loss of vision with pain in or behind the eye is (caused by optic neuritis) - These early signs may subside after 3-6 weeks without any residual deficit - For others, visual loss may be insidious and painless[quizlet.com]
  • Oscillopsia or blurred vision while reading, in lateral gaze, or with head motion can be a presenting complaint (1012,1013).[neuroophthalmology.ca]
  • Refractive errors cause blurred vision and are the most common reason why a person goes to see an eye professional.[richardsonthebrain.com]
Macula
  • It is suggested that the mucopolysaccharide deposit could cause strangulation of nerve endings.The maculas and crista ampullaris are what allow for non-visual sensation of head movements.[en.wikipedia.org]
  • Khetarpal et al 3 discovered an acidophyllic mucopolysaccharide-containing substance, especially in cochleas, maculas, and cristae of patients with DFNA9, as well as severe degeneration of vestibular and cochlear sensory axons and dendrites.[doi.org]
  • Age-related blood flow and capillary changes in the rat utricular macula ... JARO 03:167-173, 2001 Poretti, A., et al. (2013). "Vestibular impairment in patients with Charcot-Marie-tooth disease." Neurology 80(23): 2099-2105. Rinne T, and others.[tchain.com]
  • Their vestibular loss arises from an acidophilic mucopolysaccharide deposit, identified in the cochlea and macula, that causes strangulation of the nerve endings (Huygen et al. 1989, 1991 ; Verhagen et al. 2000 ; Cremers et al., 2005 ; Robertson et al[physreports.physiology.org]
Hearing Impairment
  • Hearing impairment started unilaterally, predominantly in the high frequencies. He also reported tinnitus. Disease progressed to severe bilateral high-frequency hearing impairment and vestibular areflexia.[doi.org]
  • Patients report feelings of vague dissiness, blurred vision, dysequilibrium in the dark, and progressive hearing impairment.[en.wikipedia.org]
  • Willems CRC Press, ١٧‏/١٠‏/٢٠٠٣ - 406 من الصفحات Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment.[books.google.com]
  • However, it is commonly known that many hearing impaired people also suffer from balance problems.[jmg.bmj.com]
Tinnitus
  • At that time, he also mentioned having had tinnitus on both sides for about a year.[doi.org]
  • He also reported tinnitus. Disease progressed to severe bilateral high-frequency hearing impairment and vestibular areflexia. Fluctuation of vestibulocochlear function was documented and mentioned by the patient.[ncbi.nlm.nih.gov]
  • We extend this body of work, drawing on the experiences of people living with Ménière's disease; a long-term progressive vestibular disorder characterised by unpredictable episodes of debilitating vertigo, tinnitus and permanent sensorineural hearing[opus.bath.ac.uk]
  • Tinnitus : ringing in the ears. (Blakeslee, 84) Medical term for ‘hearing’ noises in your ears when there is no outside source of the sounds. Tinnitus is common.[richardsonthebrain.com]
  • Most of the patients reported tinnitus, and half of them reported pressure in the ears.[neus-keel-oor.be]
Progressive Hearing Loss
  • Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome. Int J Pediatr Otorhinolaryngol. 2001;61:207–15.[asperbio.com]
  • All affected families showed a similar progressive hearing loss and vestibular dysfunction.[nature.com]
  • The subtype IIA, however, may demonstrate progressive hearing loss not found in the other Type II expressions. These children may eventually need a cochlear implant as their hearing loss progresses.[audiologyonline.com]
  • One significant cause of progressive hearing loss is the congenital enlargement of the cochlear aqueducts. This condition is referred to as large vestibular aqueduct (LVA) syndrome, also known as enlarged or dilated vestibular aqueduct syndrome.[asha.org]
  • Seco CZ, Oonk AM, Domínguez‐Ruiz M et al. (2014) Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. European Journal of Human Genetics: EJHG. doi:10.1038/ejhg.2014.83. [Epub ahead of print].[els.net]
Fluctuating Hearing Loss
  • These signs can be interpreted as being caused by release from contralateral inhibition. 13 In one other family linked to DFNA9, fluctuating hearing loss was documented. 5 In the same family, some patients reported periodic vertigo, sometimes with nausea[doi.org]
  • LVA is generally bilateral and almost always leads to some degree of progressive or fluctuating hearing loss. Hearing loss is often reported following head injury (Smith & Van Camp, 2006).[asha.org]
  • LVAS is typically bilateral and almost always leads to some degree of progressive or fluctuating hearing loss. Although LVAS is a congenital condition, hearing loss may not be present from birth.[dallashear.com]
Benign Paroxysmal Positional Vertigo
  • Patients who are typically referred for vestibular rehabilitation therapy are those diagnosed with dizziness, imbalance, vertigo, Meniere’s syndrome, benign paroxysmal positional vertigo (BPPV), neck-related dizziness and migraines.[centrahealth.com]
  • In 1995, we saw the patient again because of benign paroxysmal positional vertigo during positioning on the left side, which was confirmed by a positive Dix-Hallpike test.[doi.org]
  • After a two- to 20-second latent period, the onset of torsional upbeat or horizontal nystagmus denotes a positive test for benign paroxysmal positional vertigo. The episode can last 20 to 40 seconds.[aafp.org]
Episodic Headache
  • headaches, usually unilateral, with throbbing accompanied by other symptoms such as nausea, vomiting, photophobia, or phonophobia; may be preceded by aura Multiple sclerosis Demyelinization of white matter in the central nervous system Other causes Cervical[aafp.org]
Suggestibility
  • It is suggested that the mucopolysaccharide deposit could cause strangulation of nerve endings.The maculas and crista ampullaris are what allow for non-visual sensation of head movements.[en.wikipedia.org]
  • In recognising life's dynamism and challenging the identity-limiting and self-damaging nature of entrenched cultural life course constructions, we suggest value in recognising alternative ways of ‘living well’ when negotiating the wide-ranging biographical[opus.bath.ac.uk]
  • Peripheral vertigo generally has a more sudden onset than vertigo of central nervous system origin, except for acute cerebrovascular events. 3 View/Print Table TABLE 2 Typical Duration of Symptoms for Different Causes of Vertigo Duration of episode Suggested[aafp.org]
  • These areas correspond with areas in the chicken inner ear that show high levels of COCH expression. 11 It was suggested that the mucopolysaccharide deposit could cause strangulation of nerve endings. 3 Such strangulation might result in aberrant stimulation[doi.org]
  • This suggests an important specific role for this domain in the functioning of COCH in the inner ear.[nature.com]
Vertigo
  • He suffered from instability in the dark, head movement–dependent oscillopsia, paroxysmal positional vertigo, and vertigo with and without nausea. Hearing impairment started unilaterally, predominantly in the high frequencies.[doi.org]
  • He suffered from instability in the dark, head movement-dependent oscillopsia, paroxysmal positional vertigo, and vertigo with and without nausea. Hearing impairment started unilaterally, predominantly in the high frequencies.[ncbi.nlm.nih.gov]
  • When affected, these organs can lead to vertigo and nausea because the body would always feel off-balance.[en.wikipedia.org]
  • Research of Vestibulocochlear Dysfunction Progressive Familial has been linked to Vestibulocochlear Nerve Diseases, Hearing Problem, Vertigo, Communicable Diseases, Sensorineural Hearing Loss (disorder).[novusbio.com]
Dizziness
  • Patients who are typically referred for vestibular rehabilitation therapy are those diagnosed with dizziness, imbalance, vertigo, Meniere’s syndrome, benign paroxysmal positional vertigo (BPPV), neck-related dizziness and migraines.[centrahealth.com]
  • Vestibular Migraine is also known as migraine vestibulopathy , migraine associated vertigo or migraine related dizziness.[migraine.ie]
  • The dizzy patient. Postgrad Med. 1999;105:161–4,167–72. 10. Hoffman RM, Einstadter D, Kroenke K. Evaluating dizziness. Am J Med. 1999;107:468–78. 11. Evans JG.[aafp.org]
  • A person with a vestibular disorder who wears glasses may also consider switching to lenses with a small lens diameter to reduce visual aberrations, thus helping to reduce vertigo and dizziness.[vestibular.org]
  • SEVERAL YEARS ago, we described a family with autosomal dominant progressive vestibulocochlear dysfunction resulting in sensorineural hearing loss and vestibular areflexia. 1, 2 The patients reported vague dizziness, blurred vision, dysequilibrium in[doi.org]
Nystagmus
  • Clearly enhanced cervico-ocular reflex and optokinetic nystagmus, as well as absent optokinetic after nystagmus at the time of vestibular areflexia, were in line with earlier observations.[doi.org]
  • Other forms of nystagmus include latent nystagmus in patients with esotropia (1009), convergence nystagmus related to aqueductal dysfunction (1016), and a jerk form of seesaw nystagmus (1017,1020).[neuroophthalmology.ca]
  • Vertical nystagmus is 80 percent sensitive for vestibular nuclear or cerebellar vermis lesions. 2 Spontaneous horizontal nystagmus with or without rotatory nystagmus is consistent with acute vestibular neuronitis.[aafp.org]
  • […] b No response – No response No response – – OCR video c No OCR No OCR No OCR No OCR No OCR No OCR Canal tests VOR (90 ) step test d No postrotary nystagmus No postrotary nystagmus No postrotary nystagmus No postrotary nystagmus No postrotary nystagmus[physreports.physiology.org]
  • One would think that bilateral loss due to Wernickes should be confined to the lateral canals and associated with vertical nystagmus. There do seem to be a lot patients with both bilateral weakness and downbeating nystagmus.[tchain.com]
Areflexia
  • Several cases showed vestibular areflexia. 12 In a large Belgian family with the same mutation, hearing loss and vestibular symptoms started between 20 and 56 years of age.[doi.org]
  • Vestibulocochlear dysfunction progressive familial, known also as familial progressive vestibulocochlear dysfunction is an autosomal dominant disease that results in sensorineural hearing loss and vestibular areflexia.[en.wikipedia.org]
  • Disease progressed to severe bilateral high-frequency hearing impairment and vestibular areflexia. Fluctuation of vestibulocochlear function was documented and mentioned by the patient.[ncbi.nlm.nih.gov]
  • RESULTS: The autosomal dominant inherited impairment was characterized by peripheral degeneration of the inner ear, leading to total deafness and bilateral vestibular areflexia.[neus-keel-oor.be]
  • "Familial congenital vestibular areflexia." J Neurol Neurosurg Psychiatry 50(7): 933-935. Zingler VC and others. Causitive factors and epidemiology of bilateral vestibulopathy in 255 patients. Ann Neurol; 61: 524-532, 2007.[tchain.com]
Oscillopsia
  • Early in 1998, at the age of 50 years, the patient had another episode of vertigo, nausea, and vomiting, combined with head movement–dependent oscillopsia.[doi.org]
  • He suffered from instability in the dark, head movement-dependent oscillopsia, paroxysmal positional vertigo, and vertigo with and without nausea. Hearing impairment started unilaterally, predominantly in the high frequencies.[ncbi.nlm.nih.gov]
  • Reported symptoms include: Sensorineural hearing loss Vestibular areflexia Hearing impairment Vertigo Nausea and vomiting Head movement-dependent oscillopsia The disease is an inherited autosomal dominant disease, but the physiological cause of the dysfunction[en.wikipedia.org]
  • […] or acute onset (as early as one to three days) and may include: Difficulty in low-light areas Difficulty walking over carpet or unleveled surfaces Disequilibrium Dizziness Ear fullness Ear ringing Imbalance Light-headedness Motion sensitivity Nausea Oscillopsia[centrahealth.com]
  • Oscillopsia or blurred vision while reading, in lateral gaze, or with head motion can be a presenting complaint (1012,1013).[neuroophthalmology.ca]

Workup

  • […] patients with PSP show the following abnormalities, although these are not specific for PSP: Diminished total sleep time Increased awakenings Progressive loss of rapid-eye-movement (REM) sleep [7, 8] Decreased REM–to–non-REM (NREM) quotient [9, 10] See Workup[emedicine.medscape.com]
Streptococcus Pneumoniae
  • Penicillin-resistant Streptococcus pneumoniae in acute otitis media: risk factors, susceptibility patterns, and antimicrobial management. Pediatr Infect Dis J 1995; 14:751-759. ‎ Página 124 - ... combination of the two.[books.google.es]

Treatment

  • "I came to the Jamerson Family YMCA for treatment of vertigo. My treatment was totally successful! After my treatment with Jessica, I am no longer experiencing dizziness when lying on my back or tilting my head back.[centrahealth.com]
  • Treatment measures for Vestibular Schwannoma may depend upon the type and location of the tumor. In many cases, if the tumor is small-sized and there are no symptoms, no treatment may be necessary.[dovemed.com]
  • Removal of the clot is the usual treatment.[britannica.com]
  • Help raise awareness to ensure they have the resources they need to find treatments for this terrible disease. All in the family The global research community agrees that families with Usher syndrome hold the key to a cure.[futureofpersonalhealth.com]
  • Treatment of acute otitis media typically includes antibiotics and sometimes additional medications prescribed by the physician.[dallashear.com]

Prognosis

  • What is the Prognosis of Vestibular Schwannoma? (Outcomes/Resolutions) The prognosis of Vestibular Schwannoma (benign tumor) is excellent, if the tumor can be removed without damaging the underlying nerve.[dovemed.com]
  • The prognosis for patients with PSP is poor, with the average time from onset of symptoms to death ranging from 5-9 years.[eyewiki.aao.org]
  • The affected cohort in Golbe’s study consisted entirely of white persons; however, the survey population included only 5.7% black individuals, thus preventing any meaningful analysis regarding race. [22] Prognosis Studies of cohort patients dying under[emedicine.medscape.com]
  • Prognosis in bilateral vestibular hypofunction. Laryngoscope, 109, 1999, 35-41. 35 patient records were reviewed Hain TC, Cherchi M, and Yacovino DA “ Bilateral vestibular weakness. “Frontiers in Neurology-Neuro-Otology (May 2018), Jen, J.[dizziness-and-balance.com]

Etiology

  • Etiology Overall, the definite etiology of BVH was determined in 47% of the cases ( N 72) and the probable etiology in 22% ( N 34). In 31% ( N 48), the etiology of BVH remained idiopathic (Figure 1 ).[frontiersin.org]
  • When PS and nonsydromal LVA are considered part of the same disease spectrum, the prevalence of this disorder as an etiology for congenital deafness is 5.5% (Smith & Van Camp, 2006).[asha.org]
  • Do not use laboratory tests to initially identify the etiology of dizziness. C 10 Laboratory tests identify the etiology of vertigo in less than 1 percent of patients with dizziness.[aafp.org]
  • , viruses, and environmental factors) - Etiology of PNDs - This is suspected because these diseases are more prevalent among families and certain racial groups - Etiology of PNDs - These and their autoimmune response also may be involved as an external[quizlet.com]
  • (Etiology) The exact cause and mechanism of Vestibular Schwannoma formation, in a majority of cases, is unknown; they are known to be the result of sporadic mutations. This implies that they do not have a preceding family history of the condition.[dovemed.com]

Epidemiology

  • Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.[books.google.com]
  • Epidemiology The incidence is about 1 in 25,000. About 3-6% of hearing impaired children have the condition. Types 1 and 2 are more common than type 3 and together account for 90-95% of Usher's syndrome and about 10% of all children born deaf.[patient.info]
  • To date, there have been only a few epidemiologic studies investigating PSP associations.[emedicine.medscape.com]
  • Ruano L, Melo C, Silva MC and Coutinho P (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42(3): 174–183.[els.net]
Sex distribution
Age distribution

Pathophysiology

  • The role of heredity in the pathophysiology of PSP remains elusive. Although there are anecdotal reports in the literature that describe apparent familial PSP, several larger series have not noted this association.[emedicine.medscape.com]
  • In addition there must be a low to high density in at least three of the following structures: oculomotor complex, dentate nucleus, striatum, or medulla.[16, 33] Pathophysiology As stated previously, PSP is a known tauopathy.[eyewiki.aao.org]
  • This may be related to the underlying pathophysiology of demyelination. Presumably there are many other cases like this involving other hereditary as well as acquired neuropathic illnesses.[tchain.com]

Prevention

  • Tubes can restore hearing to normal, prevent fluid from recurring, decrease the number of acute ear infections, and prevent damage to the middle ear bones as well as other more serious ear complications.[dallashear.com]
  • Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss[babyhearing.org]
  • […] devices or cochlear implants [ 9 ] (which appear to enhance the quality of life) [ 10 ] Orientation and mobility training Communication services and independent living training that may include learning Braille, low vision services, or auditory training Prevention[patient.info]
  • Many ALS patients can live longer and more productive lives because of current research into the cause, prevention and cure for the disease. Improvements in medical management, including nutrition and breathing, regularly increase patient survival.[hopkinsmedicine.org]

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