Tyler's Hope for a Dystonia Cure
Encyclopedia
Tyler's Hope for a Dystonia Cure ("Tyler's Hope") is a non-profit foundation based in Gainesville, Florida that raises money and awareness for Dystonia
, a neurological movement disorder
in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures.
Tyler’s Hope was established in 2005 by Rick and Michelle Staab in response to their son, Tyler’s, diagnosis with DYT1 Dystonia
.
gene
. The organization also distributes grants, such as the Edward V. Staab Memorial Grant or the Cure Dystonia Initiative Grant, to promising Dystonia
researchers. Tyler’s Hope has funded the writing and publication of a book on integrated management of Dystonia patients, The Dystonia Patient, written by the dystonia team at the University of Florida Movement Disorders Center. Tyler’s Hope hosts an annual think tank
summit with the McKnight Brain Institute
in Gainesville, Florida. The main project of Tyler’s Hope for a Dystonia Cure is the Tyler’s Hope Center for Comprehensive Dystonia Care, a research and treatment center dedicated to Dystonia
and located in the University of Florida
Movement Disorders Center. Tyler's Hope is largely staffed and supported by the management and employees of InterMed Biomedical Services, Inc., InterMed Nuclear Medicine Services, Inc. and InterMed Ultrasound Services, Inc., three companies out of Alachua, Florida.
After months of hospital visits, the Staabs met Dr. Michael Okun of Shands at the University of Florida
. He diagnosed Tyler with Primary Generalized Early-Onset Dystonia
, a type of Dystonia
characterized by twisting muscle contraction
that begins in childhood. Symptoms of DYT1 Dystonia
are believed to result from altered neuronal communication in the basal ganglia
. This was confirmed with a blood test for the DYT1 Dystonia
gene
.
According to the Dystonia Medical Research Foundation, Dystonia
is a neurological movement disorder
affecting the central nervous system
characterized by involuntary and often painful spasm
s of the muscles. This disorder currently has no cure and progressively robs one of the ability to control voluntary movements and even the ability to walk.
According to the National Institute of Neurological Disorders and Stroke
in the National Institutes of Health
, Dystonia
is a neurological disorder
in which “sustained muscle contractions cause twisting and repetitive movements or abnormal postures.” The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Those with Dystonia usually have normal intelligence and no associated psychiatric disorders.”
Tyler underwent Deep Brain Stimulation
(DBS) in June 2006 with the hope of giving him some relief of his painful symptoms and had positive, though not drastic, results. Deep Brain Stimulation
is a neurosurgical treatment which stimulates the brain with mild electrical signals, which are emitted from a brain pacemaker
.
Since Tyler’s diagnosis
in 2005, the Staabs have been focused on raising money and awareness through Tyler’s Hope. In 2008, their second child, Samantha, then 7, was also diagnosed with Dystonia
. The Staabs have a third child who has not displayed symptoms of Dystonia
. In January and February 2010, Samantha Staab also underwent Deep Brain Stimulation
surgery in hopes of alleviating some of her symptoms.
is a movement disorder that causes the muscles to contract and spasm
involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are “competing” for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. Researchers have identified 15 different genetic mutations that can contribute to Dystonia
, including mutations in the DYT1 gene
, which causes whole-body or “generalized” Dystonia
. DYT1 is diagnosed by molecular genetic testing
of the TOR1A gene
revealing the three -base pair deletion c.904_906delGAG in most affected individuals. According to Johns Hopkins School of Medicine
, Dystonia
is not rare and is actually the third most common movement disorder
. Georgetown University Hospital
notes that Dystonia
affects nearly 300,000 people in North America and does not discriminate, but rather affects people of all races, ages and ethnic groups.
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
, a neurological movement disorder
Movement disorder
Movement disorders include:* Akathisia * Akinesia * Associated Movements * Athetosis...
in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures.
Tyler’s Hope was established in 2005 by Rick and Michelle Staab in response to their son, Tyler’s, diagnosis with DYT1 Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
.
About Tyler's Hope
Tyler’s Hope is a member of the Dystonia Coalition, a collaboration of scientists, institutions, and patient organizations formed to advance the pace of clinical research for the dystonias. Tyler’s Hope created the International Dystonia Patient Registry, a voluntary, a patient-reported, international, multi-center, disease or condition-listing registry for patients and their families who carry the DYT1 DystoniaDystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. The organization also distributes grants, such as the Edward V. Staab Memorial Grant or the Cure Dystonia Initiative Grant, to promising Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
researchers. Tyler’s Hope has funded the writing and publication of a book on integrated management of Dystonia patients, The Dystonia Patient, written by the dystonia team at the University of Florida Movement Disorders Center. Tyler’s Hope hosts an annual think tank
Think tank
A think tank is an organization that conducts research and engages in advocacy in areas such as social policy, political strategy, economics, military, and technology issues. Most think tanks are non-profit organizations, which some countries such as the United States and Canada provide with tax...
summit with the McKnight Brain Institute
McKnight Brain Institute
The McKnight Brain Institute at the University of Florida is a research and teaching center, which conducts integrated Research in neuroscience, neurology, psychiatry, cognitive science, and related areas....
in Gainesville, Florida. The main project of Tyler’s Hope for a Dystonia Cure is the Tyler’s Hope Center for Comprehensive Dystonia Care, a research and treatment center dedicated to Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
and located in the University of Florida
University of Florida
The University of Florida is an American public land-grant, sea-grant, and space-grant research university located on a campus in Gainesville, Florida. The university traces its historical origins to 1853, and has operated continuously on its present Gainesville campus since September 1906...
Movement Disorders Center. Tyler's Hope is largely staffed and supported by the management and employees of InterMed Biomedical Services, Inc., InterMed Nuclear Medicine Services, Inc. and InterMed Ultrasound Services, Inc., three companies out of Alachua, Florida.
The Tyler’s Hope Story
As a healthy and active 7-year-old boy, Tyler Staab enjoyed playing basketball, soccer, tennis and golf. In February 2005 all of this changed. While practicing his basketball skills one day his father, Rick, noticed that Tyler could not bring his arm in without it shaking uncontrollably.After months of hospital visits, the Staabs met Dr. Michael Okun of Shands at the University of Florida
Shands at the University of Florida
Shands at the University of Florida is a teaching hospital at the University of Florida in Gainesville, Florida and Jacksonville, Florida and is two of many hospitals in the Shands HealthCare system.-History:...
. He diagnosed Tyler with Primary Generalized Early-Onset Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
, a type of Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
characterized by twisting muscle contraction
Muscle contraction
Muscle fiber generates tension through the action of actin and myosin cross-bridge cycling. While under tension, the muscle may lengthen, shorten, or remain the same...
that begins in childhood. Symptoms of DYT1 Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
are believed to result from altered neuronal communication in the basal ganglia
Basal ganglia
The basal ganglia are a group of nuclei of varied origin in the brains of vertebrates that act as a cohesive functional unit. They are situated at the base of the forebrain and are strongly connected with the cerebral cortex, thalamus and other brain areas...
. This was confirmed with a blood test for the DYT1 Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
According to the Dystonia Medical Research Foundation, Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
is a neurological movement disorder
Movement disorder
Movement disorders include:* Akathisia * Akinesia * Associated Movements * Athetosis...
affecting the central nervous system
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...
characterized by involuntary and often painful spasm
Spasm
In medicine a spasm is a sudden, involuntary contraction of a muscle, a group of muscles, or a hollow organ, or a similarly sudden contraction of an orifice. It is sometimes accompanied by a sudden burst of pain, but is usually harmless and ceases after a few minutes...
s of the muscles. This disorder currently has no cure and progressively robs one of the ability to control voluntary movements and even the ability to walk.
According to the National Institute of Neurological Disorders and Stroke
National Institute of Neurological Disorders and Stroke
The National Institute of Neurological Disorders and Stroke is a part of the U.S. National Institutes of Health . It conducts and funds research on brain and nervous system disorders and has a budget of just over US$1.5 billion...
in the National Institutes of Health
National Institutes of Health
The National Institutes of Health are an agency of the United States Department of Health and Human Services and are the primary agency of the United States government responsible for biomedical and health-related research. Its science and engineering counterpart is the National Science Foundation...
, Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
is a neurological disorder
Neurological disorder
A neurological disorder is a disorder of the body's nervous system. Structural, biochemical or electrical abnormalities in the brain, spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures,...
in which “sustained muscle contractions cause twisting and repetitive movements or abnormal postures.” The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Those with Dystonia usually have normal intelligence and no associated psychiatric disorders.”
Tyler underwent Deep Brain Stimulation
Deep brain stimulation
Deep brain stimulation is a surgical treatment involving the implantation of a medical device called a brain pacemaker, which sends electrical impulses to specific parts of the brain...
(DBS) in June 2006 with the hope of giving him some relief of his painful symptoms and had positive, though not drastic, results. Deep Brain Stimulation
Deep brain stimulation
Deep brain stimulation is a surgical treatment involving the implantation of a medical device called a brain pacemaker, which sends electrical impulses to specific parts of the brain...
is a neurosurgical treatment which stimulates the brain with mild electrical signals, which are emitted from a brain pacemaker
Brain pacemaker
"Brain pacemakers" are used to treat people who suffer from epilepsy, Parkinson's disease, major depression and other diseases. The pacemaker is a medical device that is implanted into the brain to send electrical signals into the tissue. Depending on the area of the brain that is targeted, the...
.
Since Tyler’s diagnosis
Diagnosis
Diagnosis is the identification of the nature and cause of anything. Diagnosis is used in many different disciplines with variations in the use of logics, analytics, and experience to determine the cause and effect relationships...
in 2005, the Staabs have been focused on raising money and awareness through Tyler’s Hope. In 2008, their second child, Samantha, then 7, was also diagnosed with Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
. The Staabs have a third child who has not displayed symptoms of Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
. In January and February 2010, Samantha Staab also underwent Deep Brain Stimulation
Deep brain stimulation
Deep brain stimulation is a surgical treatment involving the implantation of a medical device called a brain pacemaker, which sends electrical impulses to specific parts of the brain...
surgery in hopes of alleviating some of her symptoms.
About Dystonia
DystoniaDystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
is a movement disorder that causes the muscles to contract and spasm
Spasm
In medicine a spasm is a sudden, involuntary contraction of a muscle, a group of muscles, or a hollow organ, or a similarly sudden contraction of an orifice. It is sometimes accompanied by a sudden burst of pain, but is usually harmless and ceases after a few minutes...
involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are “competing” for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. Researchers have identified 15 different genetic mutations that can contribute to Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
, including mutations in the DYT1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
, which causes whole-body or “generalized” Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
. DYT1 is diagnosed by molecular genetic testing
Genetic testing
Genetic testing is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic...
of the TOR1A gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
revealing the three -base pair deletion c.904_906delGAG in most affected individuals. According to Johns Hopkins School of Medicine
Johns Hopkins School of Medicine
The Johns Hopkins School of Medicine , located in Baltimore, Maryland, U.S., is the academic medical teaching and research arm of Johns Hopkins University. Hopkins has consistently been the nation's number one medical school in the amount of competitive research grants awarded by the National...
, Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
is not rare and is actually the third most common movement disorder
Movement disorder
Movement disorders include:* Akathisia * Akinesia * Associated Movements * Athetosis...
. Georgetown University Hospital
Georgetown University Hospital
Georgetown University Hospital is one of the national capital area's oldest academic teaching hospitals and is affiliated with Georgetown University School of Medicine. GUH is a not-for-profit, acute-care teaching and research facility located in Northwest Washington, DC...
notes that Dystonia
Dystonia
Dystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
affects nearly 300,000 people in North America and does not discriminate, but rather affects people of all races, ages and ethnic groups.
See also
- DystoniaDystoniaDystonia is a neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning or reaction to...
- Torsion dystoniaTorsion dystoniaTorsion dystonia is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a...
- Movement disorderMovement disorderMovement disorders include:* Akathisia * Akinesia * Associated Movements * Athetosis...
- Torsin ATorsin ATorsin-1A is a protein that in humans is encoded by the TOR1A gene.-External links:*-Further reading:...
- Shands at the University of FloridaShands at the University of FloridaShands at the University of Florida is a teaching hospital at the University of Florida in Gainesville, Florida and Jacksonville, Florida and is two of many hospitals in the Shands HealthCare system.-History:...
External links
- Tyler's Hope for a Dystonia Cure
- CNN Video on Tyler's Hope
- WCJB News Story on Tyler's Hope
- InterMed Website
- Dystonia Medical Research Foundation
- Dystonia Coalition
- The Tyler's Hope Center at the University of Florida Movement Disorders Center
- Dystonia International Patient Registry
- Dystonia at the National Institutes of Health
- American Dystonia Foundation Fact Sheet
- National Institute of Neurological Disorders and Stroke