FIGHTING
DYSTONIA
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X-LINKED DYSTONIA-PARKINSONISM What is Dystonia? Dystonia is an often devastating neurological movement disorder characterized by involuntary muscle contractions that force certain parts of the body into abnormal, contorted, sometimes painful, movements or postures. The causes of Dystonia are unclear. There are few treatment options for Dystonia patients; no known cure exists for the disease. Symptoms of Dystonia include those that affect one area of the body (focal Dystonia, including cervical), two or more nearby areas of the body (multifocal Dystonia), one half the body (hemidystonia), or the entire body (generalized Dystonia). Primary Dystonia is when Dystonia is the solitary symptom, unassociated with other pathology. Secondary Dystonia is the result of another health condition such as stroke or multiple sclerosis, or the result of injury such as trauma to the brain or lack of oxygen at birth. Tardive Dystonia is a form of the disease that occurs as a side effect of certain drugs. Tardive Dystonia is typically thought of as a type of secondary Dystonia. X-Linked Dystonia-Parkinsonism X-Linked Dystonia-Parkinsonism (XDP) is a genetic form of dystonia found almost entirely among males of Filipino descent from the Island of Panay specifically the Province of Capiz. Terms used to describe X-Linked Dystonia-Parkinsonism: XDP, Lubag, Dystonia of Panay Symptoms XDP is a recessive disorder affecting males almost exclusively. It is characterized by both dystonia and parkinsonism including signs and symptoms such as slow movement (bradykinesia), tremor, rigidity, and a loss of postural reflexes. With disease progression, the dystonia usually becomes generalized. In some patients, signs of parkinsonism may accompany, precede, or "replace" symptoms of dystonia. The disease is transmitted through unaffected females, so-called "carriers". A few cases have been described in which females who carry a copy of the disease gene may manifest mild symptoms of the disorder, such as relatively mild dystonia or chorea. XDP is a primarily adult-onset disease starting at age 35 on average with a wide span of onset ranging from late adolescence to the early sixties. Cause XDP occurs throughout the Philippines but is also diagnosed in the US and Canada in people of Filipino descent. All known cases of XDP originate from one common ancestor. The gene associated with XDP, called the DYT3 gene, was discovered in 2003. Diagnosis Diagnosis of XDP is based on patient history and neurological examination. Positron emission tomography (PET scans) and olfactory testing may be prescribed. Treatment Treatment for XDP involves using medications to address dystonia, parkinsonism, or both. Parkinsonism symptoms may slightly improve with levodopa or dopamine agonist therapy, and dystonic features may respond to anticholinergics or benzodiazepines such as Clonazepam (Klonopin®). Zolpidem and Tetrabenazine may be used if dystonia symptoms become multifocal or generalized. Botulinum toxin injections may improve focal dystonias. A surgical procedure called Deep Brain Stimulation (DBS) has been recently approved by the FDA for Primary Generalized Dystonia and luckily, that's my case. Deep Brain Stimulation Deep brain stimulation (DBS) involves implanting stimulating electrodes into selected targets in the brain in order to mimic the effects of lesioning. Surgeons began using DBS in place of lesioning for Parkinson's disease patients in the mid-1990s. DBS also has applications to tremor and pain. Whereas DBS has been used to treat thousands of persons with Parkinson's disease, the procedure began being applied to dystonia less than 10 years ago. It is estimated that just under 1,000 dystonia patients have been treated with DBS. Bilateral pallidal DBS produces significant benefit in dystonia with average improvements of about 50-60% in the Burke-Fahn-Marsden dystonia rating scale. Some primary generalized patients have been reported to have up to 90% improvement. DBS has also been performed on persons with secondary dystonias, cervical dystonia, segmental dystonia, and myoclonic dystonia with encouraging results. The complete DBS apparatus includes the DBS electrode, a connecting wire, and a pulse generator (a.k.a. "brain pacemaker" or stimulator) that contains a battery. The initial procedure to implant DBS is identical to that of the pallidotomy and thalamotomy. Once the brain target is mapped and identified, instead of creating a lesion, the surgeon places the DBS electrode into the target. The wire and pulse generator may be implanted at the same time as the electrode or at a later date. The generator is implanted under the collarbone, and the wire is tunneled up the neck, behind the ear, and to the site of the electrode (the patient is under general anesthesia for this part of the procedure). The wire is connected to the electrode, and the incisions are closed. Most DBS procedures involve the implantation of two generators and are done in two surgeries. It is possible to implant both generators in a single surgery, and surgical centers vary in their preferred approach. Immediately after the operation, the patient may temporarily resume medications. The patient may be discharged the next day. Once the generator is implanted, the patient must wait a week or two before the batteries are activated. This waiting period is necessary to allow the swelling that normally occurs with the surgery to diminish. The DBS electrode conveys electrical pulses into the brain using power produced by the battery in the generator. A series of visits to the hospital are required to adjust the voltage settings to the needs of the individual. It may take several weeks or months to achieve the correct settings. The patient can check the status of the generator using a handheld device that resembles a TV remote control. Using this device, the patient can determine if the generator is on or off, and can turn it back on in the event that it shuts down unexpectedly. (Certain phenomenon such as magnetic fields caused by security devices may cause the battery to temporarily stop working.) The expected life span of a battery at a typical voltage is about four years. At a very high voltage, the battery may need to be replaced after a year; at a very low voltage, perhaps up to seven years. Replacing a battery can be done under general or local anesthesia as an outpatient procedure. |
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I NEED YOUR HELP... Hello, I'm Jun Buenaflor, I'm suffering from an illness called X-Linked Dystonia-Parkinsonism (XDP). It is a devastating neurological movement disorder characterized by involuntary muscle contractions that force certain parts of the body into abnormal twisting, contorted, sometimes painful, movements or postures. The causes of Dystonia are unclear. There are few treatment options for Dystonia patients; no known cure exists for the disease. * View video. I hope to undergo Deep Brain Stimulation to stop XDP but I do not have insurance so its a big problem, I need your help. * The video file is 6MB+ so you will need DSL or any Broadband connection to download it faster, the video is about Dystonia and Deep Brain Stimulation (DBS). You will need Windows Media Player to play the video. CLICK HERE TO MAKE A DONATION. Powered by PayPal You can use PayPal even if you do not have a PayPal account. |
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