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Because mood disorders can interfere with the vestibular compensation and adaptive plasticity, it suggested to address any co-occurring anxiety disorder and/or depression. Severe anxiety episodes are usually addressed by short-term benzodiazapine therapy. Long-term use of benzodiazapines such as diazepam, however, is not recommended due to the tolerance issues. SSRIs and SSNRIs are among a number of first line treatments for anxiety or depression.
Vestibular neuronitis is generally a self-limiting disease. Treatment with drugs is neither necessary nor possible. The effect of glucocorticoids has been studied, but they have not been found to significantly affect long-term outcome.
Symptomatic treatment with antihistaminics such as cinnarizine, however, can be used to suppress the symptoms of vestibular neuronitis while it spontaneously regresses. Prochlorperazine is another commonly prescribed medication to help alleviate the symptoms of vertigo and nausea.
Studies have shown that older adults with dementia who take antipsychotics (medications for mental illness) such as prochlorperazine have an increased chance of death during treatment.
Patients are advised to treat with bed rest and avoiding activities that increase intracranial pressure (i.e. weightlifting, valsalva, scuba diving, flying in airplanes) with the hopes of the membrane healing on their own. Appropriate Physical therapy / vestibular rehabilitation techniques can be helpful in managing symptoms of movement sensitivity.
There are three treatment options available to a patient. These options are observation, microsurgical removal and radiation (radiosurgery or radiotherapy). Determining which treatment to choose involves consideration of many factors including the size of the tumor, its location, the patient's age, physical health and current symptoms. About 25% of all acoustic neuromas are treated with medical management consisting of a periodic monitoring of the patient's neurological status, serial imaging studies, and the use of hearing aids when appropriate.
One of the last great obstacles in the management of acoustic neuromas is hearing preservation and/or rehabilitation after hearing loss. Hearing loss is both a symptom and concommitant risk, regardless of the treatment option chosen.
Treatment does not restore hearing already lost, though there are a few rare cases of hearing recovery reported.
A diagnosis of NF2 related bilateral acoustic neuromas creates the possibility of complete deafness if the tumors are left to grow unchecked. Preventing or treating the complete deafness that may befall individuals with NF2 requires complex decision making. The trend at most academic U.S. medical centers is to recommend treatment for the smallest tumor which has the best chance of preserving hearing. If this goal is successful, then treatment can also be offered for the remaining tumor. If hearing is not preserved at the initial treatment, then usually the second tumor, in the only-hearing ear, is just observed. If it shows continued growth and becomes life-threatening, or if the hearing is lost over time as the tumor grows, then treatment is undertaken. This strategy has the highest chance of preserving hearing for the longest time possible.
Another treatment option for an acoustic neuroma is radiation. Stereotactic radiation can be delivered as single fraction stereotactic radiosurgery (SRS) or as multi-session fractionated stereotactic radiotherapy (FSR). Both techniques are performed in the outpatient setting, not requiring general anesthesia or a hospital stay. The purpose of these techniques is to arrest the growth of the tumor. This treatment has not been well studied and thus it is unclear if it is better than observation or surgery.
All types of radiation therapy for acoustic neuromas may result in "tumor control" in which the tumor cells die and necrosis occurs. Tumor control means that the tumor growth may slow or stop and, in some cases, the tumor may shrink in size. Acoustic neuroma tumors have been completely eliminated by radiation treatments in almost no cases. In other words, radiation cannot remove the tumor like microsurgery would. Tumors under 2.5 - 3.0 cm, without significant involvement of the brainstem, are more favorable for radiation treatment. Side effects can occur when the brainstem is irradiated and in some cases of large tumors, radiation is suggested against.
In single dose treatments, hundreds of small beams of radiation are aimed at the tumor. This results in a concentrated dose of radiation to the tumor and avoids exposure of surrounding brain tissues to the radiation. Many patients have been successfully treated this way. Facial weakness or numbness, in the hands of experienced radiation physicians, occurs in only a small percent of cases. Hearing can be preserved in some cases.
The multi-dose treatment, FSR, delivers smaller doses of radiation over a period of time, requiring the patient to return to the treatment location on a daily basis, from 3 to 30 times, generally over several weeks. Each visit lasts a few minutes and most patients are free to go about their daily business before and after each treatment session. Early data indicates that FSR may result in better hearing preservation when compared to single-session SRS.
Radiated patients require lifetime follow-up with MRI scans. Follow-up after SRS and FSR typically involves an MRI scan and audiogram at six months, one year, then yearly for several years, then every second or third year indefinitely to make sure the tumor does not start to grow again. Patients should understand there have been rare reports of malignant degeneration (a benign tumor becoming malignant) after radiotherapy. In some cases the tumor does not die and continues to grow. In those instances, another treatment is necessary - either microsurgery or sometimes another dose of radiation.
Studies are beginning to appear for the other modalities. All of the techniques use computers to create three dimensional models of the tumor and surrounding neural structures. Radiation physicists then create dosimetry maps showing the level of radiation to be received by the tumor and the normal tissues. Surgeons, radiation therapists and physicists then modify the dosimetry to maximize tumor doses and minimize radiation toxicity to surrounding normal tissues. Treatments generally last 30–60 minutes. Just like for surgery, the experience of the team in treating acoustic neuromas with all modalities (surgery and radiation) can affect outcomes.
There are a multitude of studies supporting short-term (<5 yrs.) and longer-term (over 10 yrs.) tumor control with radiation. Unfortunately, as is the case with microsurgical studies, most have inconsistent follow-up to draw definitive conclusions.
When diagnosing, PLF should be differentiated from Ménière's disease. Tympanostomy has been reported to be a way to diagnose and cure PLF.
There is no way to reverse VHL mutations, but early recognition and treatment of specific manifestations of VHL can substantially decrease complications and improve quality of life. For this reason, individuals with VHL disease are usually screened routinely for retinal angiomas, CNS hemangioblastomas, clear-cell renal carcinomas and pheochromocytomas. CNS hemangioblastomas are usually surgically removed if they are symptomatic. Photocoagulation and cryotherapy are usually used for the treatment of symptomatic retinal angiomas, although anti-angiogenic treatments may also be an option. Renal tumours may be removed by a partial nephrectomy or other techniques such as radiofrequency ablation.
Surgical excision of fatty tissue deposits around joints (liposuction) has been used in some cases. It may temporarily relieve symptoms although recurrences often develop.
Common treatments for Dercum's disease is directed towards treating the individual symptoms. Pain relief medication may be administered to temporarily reduce the discomfort in the patient. Cortisone shots have also been shown to be effective in temporarily reducing the chronic pain. Surgical removal of the damaged adipose tissue can be effective, but often the disease will recur. Once a person has Dercum's disease then they will likely have pain for the rest of their life. Studies have only shown temporary pain relief in patients. Long term the person with Dercum's disease will need to take prescription drugs for pain relief to ensure quality of life. The disease will cause chronic and severe pain for the rest of a persons life. There are several holistic treatments for this disease. Acupuncture, hypnosis and cognitive behavior therapy have been attempted to help people with Dercum's disease.
Few convincing large studies on the treatment of Dercum's disease have been conducted. Most of the different treatment strategies that exist are based on case reports. Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of Dercum's disease. Not enough studies have been done to substantiate that diet and supplements could help with the disease.
Treatment methods include the following modalities:
Prevention is through use of Stock coryza-free birds. In other areas culling of the whole flock is a good means of the disease control. Bacterin also is used at a dose of two to reduce brutality of the disease. Precise exposure has also has been used but it should be done with care. Vaccination of the chicks is done in areas with high disease occurrence. Treatment is done by using antibiotics such as erythromycin, Dihydrostreptomycin, Streptomycin sulphonamides, tylosin and Flouroquinolones .
As of 2014, no clinical trials had been conducted to determine what treatments are safe and effective; a few case reports had been published describing treatment of small numbers of people (two to twelve per report) with clomipramine, flunarizine, nifedipine, topiramate, carbamazepine, methylphenidate. Studies suggest that education and reassurance can reduce the frequency of EHS episodes. There is some evidence that individuals with EHS rarely report episodes to medical professionals.
The twins require the use of wheelchairs for mobility and are unable to speak without the assistance of electronic speaking aids. They experience persistent and painful muscle spasms which are worsened by emotional distress. They are currently living with their parents, with the assistance of hospice workers. Doctors continue to administer tests to the twins in search of a treatment.
The first treatment for Fabry's disease was approved by the US FDA on April 24, 2003. Fabrazyme (agalsidase beta, or Alpha-galactosidase) was licensed to the Genzyme Corporation. It is an enzyme replacement therapy (ERT) designed to provide the enzyme the patient is missing as a result of a genetic malfunction. The drug is expensive — in 2012, Fabrazyme's annual cost was about US$200,000 per patient, which is unaffordable to many patients around the world without enough insurance. ERT is not a cure, but can allow improved metabolism and partially prevent disease progression, as well as potentially reverse some symptoms.
The pharmaceutical company Shire manufactures agalsidase alpha (which differs in the structure of its oligosaccharide side chains) under the brand name Replagal as a treatment for Fabry's disease, and was granted marketing approval in the EU in 2001. FDA approval was applied for the United States. However, Shire withdrew their application for approval in the United States in 2012, citing that the agency will require additional clinical trials before approval.
Clinically the two products are generally perceived to be similar in effectiveness. Both are available in Europe and in many other parts of the world, but treatment costs remain very high.
Besides these drugs, a gene therapy treatment is also available from the Canadian Institutes of Health. Other treatments (oral chaperone therapy -Amicus-, plant-based ERT -Protalix-, substrate reduction therapy -Sanofi-Genzyme-, bio-better ERT -Codexis-, gene editing solution -Sangamo- are currently being researched.
Pain associated with Fabry disease may be partially alleviated by ERT in some patients, but pain management regimens may also include analgesics, anticonvulsants, and nonsteroidal anti-inflammatory drugs, though the latter are usually best avoided in renal disease.
Currently, there is no cure for Urbach–Wiethe disease although there are some ways to individually treat many of its symptoms. There has been some success with oral dimethyl sulfoxide (DMSO) and intralesional heparin, but this is not true in all cases. D-penicillamine has also shown promise, but has yet to have been used extensively. There are also some reports of patients being treated with etretinate, a drug typically prescribed to treat psoriasis. In some cases, calcifications in the brain can lead to abnormal electrical activity among neurons. Some patients are given anti-seizure medication to help deal with these abnormalities. Tracheostomy is often used to relieve upper respiratory tract infections. Carbon dioxide laser surgery of thickened vocal cords and beaded eyelid papules have improved these symptoms for patients. The discovery of the mutations of the ECM1 gene has opened the possibility of gene therapy or a recombinant EMC1 protein for Urbach–Wiethe disease treatment, but neither of these two options are currently available.
Isotretinoin, high doses of vitamin A and tretinoin cream can be utilized. Also, emollients, oral antihistamines, and antipruritic creams that contain menthol and camphor may be helpful because the lesions can become very itchy.
This can be done by annual evaluations by multidiciplinary team involving otolaryngologist, clinical geneticist, a pediatrician, the expertise of an educator of the deaf, a neurologist is appropriate.
UV irradiation can be utilized after curetting the hyperkeratosis with a combination medication treatment of oral retinoids, psoralen and Ultraviolet A radiation.
Current treatment is aimed at easing the symptoms, reducing inflammation, and controlling the immune system. The quality of the evidence for treating the oral ulcers associated with Behçet's disease, however, is poor.
High-dose corticosteroid therapy is often used for severe disease manifestations. Anti-TNF therapy such as infliximab has shown promise in treating the uveitis associated with the disease. Another Anti-TNF agent, etanercept, may be useful in people with mainly skin and mucosal symptoms.
Interferon alpha-2a may also be an effective alternative treatment, particularly for the genital and oral ulcers as well as ocular lesions. Azathioprine, when used in combination with interferon alpha-2b also shows promise, and colchicine can be useful for treating some genital ulcers, erythema nodosum, and arthritis.
Thalidomide has also been used due to its immune-modifying effect. Dapsone and rebamipide have been shown, in small studies, to have beneficial results for mucocutaneous lesions.
Given its rarity, the optimal treatment for acute optic neuropathy in Behçet's disease has not been established. Early identification and treatment is essential. Response to ciclosporin, periocular triamcinolone, and IV methylprednisone followed by oral prednisone has been reported although relapses leading to irreversible visual loss may occur even with treatment. Immunosuppressants such as interferon alpha and tumour necrosis factor antagonists may improve though not completely reverse symptoms of ocular Behçet's disease, which may progress over time despite treatment. When symptoms are limited to the anterior chamber of the eye prognosis is improved. Posterior involvement, particularly optic nerve involvement, is a poor prognostic indicator. Secondary optic nerve atrophy is frequently irreversible. Lumbar puncture or surgical treatment may be required to prevent optic atrophy in cases of intracranial hypertension refractory to treatment with immunomodulators and steroids.
IVIG could be a treatment for severe or complicated cases.
Batten disease is a terminal illness; the FDA has approved Brineura (cerliponase alfa) as a treatment for a specific form of Batten disease. Brineura is the first FDA-approved treatment to slow loss of walking ability (ambulation) in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency. Palliative treatment is symptomatic and supportive.
Five bisphosphonates are currently available. In general, the most commonly prescribed are risedronic acid, alendronic acid, and pamidronic acid. Etidronic acid and other bisphosphonates may be appropriate therapies for selected patients but are less commonly used. None of these drugs should be used by people with severe kidney disease.
- Etidronate disodium The approved regimen is once daily for six months; a higher dose is more commonly used. No food, beverage, or medications should be consumed for two hours before and after taking. The course should not exceed six months, but repeat courses can be given after rest periods, preferably of three to six months duration.
- Pamidronate disodium in intravenous form: the approved regimen uses an infusion over four hours on each of three consecutive days, but a more commonly used regimen is over two to four hours for two or more consecutive or nonconsecutive days.
- Alendronate sodium is given as tablets once daily for six months; patients should wait at least 30 minutes after taking before eating any food, drinking anything other than tap water, taking any medication, or lying down (patient may sit).
- Tiludronate disodium are taken once daily for three months; they may be taken any time of day, as long as there is a period of two hours before and after resuming food, beverages, and medications.
- Risedronate sodium tablet taken once daily for 2 months is the prescribed regimen; patients should wait at least 30 minutes after taking before eating any food, drinking anything other than tap water, taking any medication, or lying down (patient may sit).
- Zoledronic acid is given as an intravenous infusion; a single dose is effective for two years. This is recommended for most people at high risk with active disease.
Urbach–Wiethe disease is typically not a life-threatening condition. The life expectancy of these patients is normal as long as the potential side effects of thickening mucosa, such as respiratory obstruction, are properly addressed. Although this may require a tracheostomy or carbon dioxide laser surgery, such steps can help ensure that individuals with Urbach–Wiethe disease are able to live a full life. Oral dimethyl sulfoxide (DMSO) has been shown to reduce skin lesions, helping to minimize discomfort for these individuals.
Calcitonin, also called calcitonin-salmon, is a synthetic copy of a polypeptide hormone secreted by the ultimobranchial gland of salmon. Miacalcin is administered by injection, three times per week or daily, for 6–18 months. Repeat courses can be given after brief rest periods. Miacalcin may be appropriate for certain patients, but is seldom used. Calcitonin is also linked to increased chance of cancer. Due to the increased risk of cancer, the European Medicines Agency (EMA) recommended that calcitonin be used only on a short-term basis for 3 conditions for which it had previously been approved in the European Union: Paget's disease, acute bone loss resulting from sudden immobilization, and hypercalcemia caused by cancer.
The EMA said it based its recommendations on a review of the benefits and risks of calcitonin-containing medicines. Conducted by the agency's Committee for Medicinal Products for Human Use (CHMP), the review encompassed available data from the companies that market these drugs, postmarketing safety data, randomized controlled studies, 2 studies of unlicensed oral calcitonin drugs, and experimental cancer studies, among other sources.
CHMP found that "a higher proportion of patients treated with calcitonin for long periods of time develop cancer of various types, compared with patients taking placebo." The increase in cancer rates ranged from 0.7% for oral formulations to 2.4% for the nasal formulation. CHMP concluded that the benefits of calcitonin for osteoporosis did not exceed the risks. The nasal spray's only indication is for osteoporosis, thus justifying the drug's removal from the market.
As a solution for injection or infusion, calcitonin should be administered for no more than 4 weeks to prevent acute bone loss resulting from sudden immobilization, and normally for no more than 3 months to treat Paget's disease, the EMA said. The agency did not specify a time frame for the short-term use of calcitonin for treating hypercalcemia caused by cancer.
Although there is no known cure for Krabbe disease, bone marrow transplantation has been shown to benefit cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. Cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear.
Since phytanic acid is not produced in the human body, individuals with Refsum disease are commonly placed on a phytanic acid-restricted diet and avoid the consumption of fats from ruminant animals and certain fish, such as tuna, cod, and haddock. Grass feeding animals and their milk are also avoided. Recent research has shown that CYP4 isoform enzymes could help reduce the over-accumulation of phytanic acid "in vivo". Plasmapheresis is another medical intervention used to treat patients. This involves the filtering of blood to ensure there is no accumulation of phytanic acid.
In terms of treatment/management for medullary cystic kidney disease, at present there are no specific therapies for this disease, and there are no specific diets known to slow progression of the disease. However, management for the symptoms can be dealt with as follows: erythropoietin is used to treat anemia, and growth hormone is used when growth becomes an issue. Additionally, a renal transplant may be needed at some point.
Finally, foods that contain potassium and phosphate must be reduced