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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]

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]

Treatment

Physical therapy treatment of vestibular hypofunction. En: Herdman SJ, Clendaniel RA. Vestibular Rehabilitation. 4ª ed. Philadelphia: FA Davis Co;2014. p.394-431 [ Links ] 9. Herdman SJ. Advances in the treatment of vestibular disorders. [scielo.isciii.es]

"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]

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. [tchain.com]

Etiology

Distribution of certainty of etiology. A definite etiology was found in 47% of the BVH patients, a probable etiology in 22% of the BVH patients and in 31% the etiology of BVH remained idiopathic. Figure 2. [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]

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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