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PLEASE VISIT MY NEW WEBSITE: http://www.fighting-dystonia.com
Hello, my name is Agapito "Jun" Buenaflor III, born on January 26,
1971. I'm from the province of Iloilo located in Panay Island,
Philippines. I have a disease called X-Linked Dystonia-Parkinsonism
with Blepharospasm.
Check out the Updates section for my
activities and news about my condition.
I would like to be in touch with people who have the same condition or
medical professionals who are willing to help. Please feel free to
send me an email.
Contact Information:
Jun Buenaflor
[email protected]
My Doctors:
Dr. Manuel Gayoles Jr.
Physiatrist
Our Lady of Mercy Hospital
Bacolod City, Philippines
Tel. No. 0063.34-434.1031 Local 128
Dr. Michelli Mae D. Gose-Yusay
Neurologist
Suite 414 Riverside MAB
Bacolod City, Philippines
Tel. No. 0063.34-433.7331 Local 7414
Dystonia Links:
Dystonia Foundation
X-Linked Dystonia-Parkinsonism
Blepharospasm
National Institute of Neurological
Disorders and Stroke (NINDS)
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+++ X-linked Dystonia-Parkinsonism +++
What is it?
X-linked dystonia-parkinsonism or Lubag is a rare genetic form of
dystonia found almost entirely among men from the Philippine Island of
Panay.
Symptoms
Affecting mainly men, symptoms of X-linked dystonia-parkinsonism can
appear as early as age 14. Young-onset patients tend to have focal
dystonia that generalizes. In these cases parkinsonism may replace
dystonia symptoms or may develop with persistent dystonia. Late-onset
cases can present with parkinsonian features without dystonia. The
parkinsonian features of X-linked dystonia-parkinsonism are similar to
those seen in idiopathic Parkinson's disease with the exception that
resting tremor is rarely seen.
Cause
X-linked dystonia-parkinsonism was first recognized in the Philippines
and among the Panay Island families with the disorder. It is called by
the Ilonggo name "lubag." This name refers to when the twisting
movements (dystonia) are intermittent, "wa'eg" when twisting postures
are sustained, or "sud-sud" (an onomatopoetic term denoting the sound
of sandal slapping the pavement) when the gait is shuffling (a feature
of parkinsonism).
Genetic analysis of large Filipino families indicate that the gene
locus maps to chromosome Xq13. Pathologic and physiologic studies
indicate that this disorder is due to primary degeneration of the
striatium with mosaic gliosis. Molecular genetic analysis indicates
that the mutation responsible for X-linked dystonia-parkinsonism was
introduced into the Olongo ethnic group of Panay more than 2,000 years
ago.
Treatment
Lubag has been unresponsive to pharmacologic intervention.
Dopaminergic agonists may cause a slight improvement in parkinsonian
symptoms or induce dyskinesias. Anticholinergic drugs and
benzodiazepines have had only a slight effect on dystonia symptoms.
The best hope for development of therapy may be based on an
understanding of the etiology of the disease.
+++ Blepharospasm +++
What is it?
Blepharospasm is a focal dystonia characterized by increased blinking
and involuntary closing of the eyes. People with blepharospasm have
normal vision. Visual disturbance is due solely to the forced closure
of the eyelids.
Symptoms
Blepharospasm affects the eye muscles and usually begins gradually
with excessive blinking and/or eye irritation. In the early stages it
may only occur with specific precipitating stressors, such as bright
lights, fatigue, and emotional tension. It is almost always present in
both eyes.
As the condition progresses, it occurs frequently during the day. The
spasms disappear in sleep, and some people find that after a good
night's sleep, spasms do not appear for several hours after waking.
In a few cases, spasms may intensify so that the eyelids remain
forcefully closed for several hours at a time.
Blepharospasm can occur with dystonia affecting the mouth and/or jaw (oromandibular
dystonia, Meige's syndrome). In such cases, spasms of the eyelids are
accompanied by jaw clenching or mouth opening, grimacing, and tongue
protrusion.
If blepharospasm causes any type of impairment, it is because muscle
contractions interfere with normal function. Features such as
cognition, strength, and the senses, including vision and hearing, are
normal. While dystonia is not fatal, it is a chronic disorder and
prognosis is difficult to predict.
Cause
Blepharospasm is believed to be due to abnormal functioning of the
basal ganglia, which are deep brain structures involved with the
control of movement. The basal ganglia assists in initiating and
regulating movement. What goes wrong in the basal ganglia is still
unknown. An imbalance of dopamine, a neurotransmitter in the basal
ganglia, may underlie several different forms of dystonia, but much
more research needs to be done for a better understanding of the brain
mechanisms involved with dystonia.
Though a history of eye trauma may be obtained in some patients, the
relationship between trauma and blepharospasm has not been
established. In most people it develops spontaneously with no known
precipitating factor.
Cases of inherited blepharospasm have been reported, usually in
conjunction with early-onset generalized dystonia, which is associated
with the DYT1 gene.
Blepharospasm may be secondary or symptomatic, occurring in
association with other disorders such as tardive dystonia,
parkinsonian syndromes, and Wilson's disease.
Treatment
Treatment for dystonia is designed to help lessen the symptoms of
spasms, pain, and disturbed postures and functions. Most therapies are
symptomatic, attempting to cover up or release the dystonic spasms. No
single strategy will be appropriate for every case.
The goal of any treatment is to achieve the greatest benefits while
incurring the fewest risks. It is to allow you to lead a fuller, more
productive life by reducing the effects of dystonia. Establishing a
satisfactory regimen requires patience on the part of both the
affected individual and the physician.
The approach for treatment of dystonia is usually three-tiered: oral
medications, botulinum toxin injections, and surgery. These therapies
may be used in alone or in combination.
Complementary care, such as physical therapy and speech therapy, may
also have a role in the treatment management depending on the form of
dystonia. For many people, supportive therapy provides an important
adjunct to medical treatment.
Although there is currently no known cure for dystonia, we are gaining
a better understanding of dystonia through research and are developing
new approaches to treatments.
Medications
A multitude of drugs has been studied to determine benefit for people
with blepharospasm, but none appear to be uniformly effective.
About one-third of people's symptoms improved when treated with oral
medications such as Klonapin (clonazepam), Artane (trihexyphenidyl),
and Lioresal (baclofen), but the degree of improvement is usually
unsatisfactory and at the expense of side effects. |
