Ménière's Disease is a disorder characterized by recurrent prostrating dizziness (vertigo), possible hearing loss and ringing sounds (tinnitus). It is associated with dilation of the membranous labyrinth (endolymphatic hydrops) in the ear.
The attacks of dizziness (vertigo) in Ménière Disease appear suddenly and usually last a few hours. Vertigo consists of the sensation that the room or objects are rotating around the patient. The dizziness often subsides gradually. The attacks may be associated with nausea and vomiting. The patient may have a recurrent feeling of fullness or pressure in the affected ear, and hearing tends to fluctuate. Over the years hearing may progressively worsen. The unusual noises heard by the patient (tinnitus) may be constant or intermittent. The sounds may be more intense before, after or during an attack of vertigo. Usually, one ear is affected, but both ears are involved in 10% to 15% of patients with Ménière’s Disease. (For more information on tinnitus, choose “tinnitus” as your search term in the Rare Disease Database.)
In Lermoyez’s variant of Ménière Disease, hearing loss and tinnitus may precede the first attack of vertigo by months or years, and the hearing may improve with onset of the vertigo.
Sometimes Ménière Disease can occur without vertigo. In this type of the disorder, the endolymphatic distention is limited to the cochlea, the snailshell-like spiral tube in the inner ear.
In most individuals with Ménière’s Disease, the disorder appears to occur randomly for unknown reasons (sporadically). However, rare familial forms of Ménière’s Disease have been reported in the medical literature. In such cases, the disorder appears to have autosomal dominant or autosomal recessive inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. The risk is the same for each pregnancy.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.
During genetic analysis of individuals within certain families (kindreds) who are affected by autosomal dominant Ménière’s Disease, researchers identified changes (mutations) of a gene known as the COCH gene. Such researchers suggest that mutations of the COCH (or “cochlin”) gene may be one of the genetic factors that may contribute to Ménière’s Disease in certain affected individuals.
The COCH gene is located on the long arm (q) of chromosome 14 (14q12-q13). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”. Chromosomes are further subdivided into bands that are numbered.
The specific underlying cause of Ménière’s Disease is unknown. However, researchers suggest that, in those with the disorder, there may be an abnormal increase in the volume and pressure of the fluid (i.e., endolymph) within winding passages of the inner ear (labyrinth). Subsequent enlargement of the region (i.e., dilation of the endolymphatic system) and associated changes are thought to cause progressive degeneration of certain specialized hair cells (vestibular and cochlear hair cells) of the inner ear. These delicate hair cells transmit nerve impulses (via the eighth cranial nerve [vestibulocochlear nerve]) that result in the interpretation of sound and the maintenance of balance.
The onset of Ménière’s Disease most commonly occurs during the fifth decade of life. However, in some cases, symptoms may become apparent during young adulthood or in elderly individuals. The disease appears to affect males and females equally.
During an episode of symptoms, bed rest may be recommended, since it may enable affected individuals to maintain a position where vertigo is less pronounced. During more prolonged episodes, certain medications may alleviate symptoms of vertigo, such as the antihistamines meclizine, cyclizine, or dimenhydrinate, or the medication scopolamine (an anticholinergic medication). In some cases, additional medications may be prescribed to help relieve nausea and vomiting. In addition, some physicians may prescribe mild sedatives to help minimize associated anxiety. According to reports in the medical literature, although the treatment of Ménière's Disease has often included ammonium chloride, medications that promote the excretion of urine (diuretics), or a low-salt diet, the value of such therapies has not been established.
If affected individuals experience persistent, severe attacks, surgery may be recommended to provide more permanent relief. However, many physicians advise that the decision to undergo such a procedure should be balanced against the possibility that the condition may improve with time. Evidence suggests that, in many affected individuals (who are primarily middle-aged), the condition has a tendency to spontaneously stabilize over a few years.
For those who opt for surgery, the specific procedures performed may depend upon a variety of factors. For example, if the disease process is confined to one of the inner ears (unilateral disease) and hearing loss is complete or almost complete, surgery may be recommended to remove the labyrinth (labyrinthectomy), including the semicircular canals and the cochlea. (The cochlea is the hollow, coiled passage of the inner ear involved in hearing. The semicircular canals are the fluid-filled tubes involved in maintaining balance.. For those in whom the disease affects both of the inner ears (bilateral disease) and who retain significant hearing, surgery may be conducted to relieve increased fluid pressure and/or to cut or remove (excise) the portion of the eighth cranial nerve (i.e., vestibular portion) connected to the semicircular canals (vestibular neurectomy). In addition, in some affected individuals, other surgical procedures may be recommended, such as implantation of a specialized device known as a shunt to help drain excess fluid and relieve increased pressure within the inner ear.
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A Pro51-To-Ser Mutation in the Coch Gene is Associated with Late Onset Autosomal Dominant Progressive Sensorineural Hearing Loss with Vestibular Defects. Y. de Kok et al.; Hum Molec Genet (1999; 8). Pp. 361-66.
Hign Prevalence of Symptoms of Ménière’s Disease in Three Families with a Mutation in the Coch Gene. E. Fransen et al.; Hum Mol Genet (Aug 1999; 8(8)). Pp. 1425-29.
FROM THE INTERNET
Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 8/17/99, Entry Number 156000; Last Edit Date 8/17/99, Entry Number 603196.
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