Visit the University of Florida's Movement Disorders Center, which is the Tyler's Hope Foundation's closest partner in research and developement.
Visit the University of Florida's Movement Disorders Center, which is the Tyler's Hope Foundation's closest partner in research and developement.
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About Dystonia:
Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, which force certain parts of the body into abnormal, sometimes painful, movements or postures. Dystonia can affect any part of the body including the arms and legs, trunk, neck, eyelids, face, or vocal cords.
For More Dystonia Information Click Here - PDF -
News:
Recently there has been coverage in the news media about a woman developing dystonia after receiving a seasonal flu vaccine. Tyler's Hope for a Dystonia Cure is not aware of any information or research showing that the seasonal flu vaccine causes dystonia. As with any medical procedure or treatment option,Tyler's Hope for a Dystonia Cure encourages you to discuss the risks and benefits of getting the seasonal flu vaccine with your doctor.
There have been continuing inquiries and comments about the Maryland woman who reports developing dystonia as a result of getting a flu shot.
Because of the concern of individuals with dystonia as to whether or not to get a flu shot because of this reported case, we have sought the opinion of Dystonia experts on this case. It is their unanimous consensus that this case does not appear to be dystonia but rather a stress reaction of some type.
Since there has never been a validated case of dystonia resulting from a flu shot, the experts polled believe this case should not deter anyone from getting a flu shot. As with any medical procedure or treatment option, the Tyler's Hope for a Dystonia Cure foundation encourages you to discuss the risks and benefits of the getting the flu vaccine with your doctor.
New Discoveries:
DYT6 Gene Identified in Both Generalized and Focal Dystonias (AAN 2009)
E-MOVE reports from the 61st Annual Meeting of the American Academy of Neurology, held in Seattle, WA, April 25th May 2nd, 2009. Poster and Session numbers refer to their listing in Neurology, 2009;72(suppl3)
Two new studies highlight the importance of mutations in the THAP1 gene for both generalized and focal primary dystonia.
Bressman et al. sequenced the DYT6 region, a centromeric region on chromosome 8 in linked with early-onset focal and generalized dystonia in Amish-Mennonite families. They discovered a mutation in THAP1, a transcription factor. They then screened phenotypically similar non-Amish-Mennonite families of European ancestry, and discovered 8 additional mutations. The mutations are predicted to affect DNA binding.
³THAP1 mutations underlie a substantial proportion of early-onset primary torsion dystonia in families,² they conclude. ³Characteristic clinical features include involvement of both limb and cranial muscles, and speech is often affected. Mutations appear to impair DNA binding, suggesting transcriptional regulation may contribute to the phenotype of DYT6 dystonia.²
Ledoux et al. sought THAP1 mutations in 1074 subjects with primary dystonia
(916 focal, 123 segmental, 17 multifocal, and 18 generalized), as well as 96 subjects with unclassified dystonia, 200 subjects with Parkinson¹s disease, and 400 neurologically normal individuals. Mutations were identified in 13 subjects with primary dystonia and 1 control. Mutations were found in individuals with cervical dystonia, laryngeal dystonia, blepharospasm, limb dystonia, and segmental dystonia. In addition to coding mutations, a variant in intron 1 was discovered in six dystonia subjects but only 1 control, suggesting the possibility of involvement of this variant as well.
Mutations in the THAP1 gene are responsible for early onset primary torsion dystonia S Bressman, R Saunders-Pullman, T Fuchs, S Gavarini, D Raymond, L Ozelius Late Breaking Session 004
Novel THAP1 mutations in primary dystonia M Ledoux, J Xiao, RF Pfeiffer, Y Zhao, R Bastian, JS Perlmutter, et al.
Late Breaking Poster 001
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About Dystonia:
Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, which force certain parts of the body into abnormal, sometimes painful, movements or postures. Dystonia can affect any part of the body including the arms and legs, trunk, neck, eyelids, face, or vocal cords.
For More Dystonia Information Click Here - PDF -
News:
Recently there has been coverage in the news media about a woman developing dystonia after receiving a seasonal flu vaccine. Tyler's Hope for a Dystonia Cure is not aware of any information or research showing that the seasonal flu vaccine causes dystonia. As with any medical procedure or treatment option,Tyler's Hope for a Dystonia Cure encourages you to discuss the risks and benefits of getting the seasonal flu vaccine with your doctor.
There have been continuing inquiries and comments about the Maryland woman who reports developing dystonia as a result of getting a flu shot.
Because of the concern of individuals with dystonia as to whether or not to get a flu shot because of this reported case, we have sought the opinion of Dystonia experts on this case. It is their unanimous consensus that this case does not appear to be dystonia but rather a stress reaction of some type.
Since there has never been a validated case of dystonia resulting from a flu shot, the experts polled believe this case should not deter anyone from getting a flu shot. As with any medical procedure or treatment option, the Tyler's Hope for a Dystonia Cure foundation encourages you to discuss the risks and benefits of the getting the flu vaccine with your doctor.
New Discoveries:
DYT6 Gene Identified in Both Generalized and Focal Dystonias (AAN 2009)
E-MOVE reports from the 61st Annual Meeting of the American Academy of Neurology, held in Seattle, WA, April 25th May 2nd, 2009. Poster and Session numbers refer to their listing in Neurology, 2009;72(suppl3)
Two new studies highlight the importance of mutations in the THAP1 gene for both generalized and focal primary dystonia.
Bressman et al. sequenced the DYT6 region, a centromeric region on chromosome 8 in linked with early-onset focal and generalized dystonia in Amish-Mennonite families. They discovered a mutation in THAP1, a transcription factor. They then screened phenotypically similar non-Amish-Mennonite families of European ancestry, and discovered 8 additional mutations. The mutations are predicted to affect DNA binding.
³THAP1 mutations underlie a substantial proportion of early-onset primary torsion dystonia in families,² they conclude. ³Characteristic clinical features include involvement of both limb and cranial muscles, and speech is often affected. Mutations appear to impair DNA binding, suggesting transcriptional regulation may contribute to the phenotype of DYT6 dystonia.²
Ledoux et al. sought THAP1 mutations in 1074 subjects with primary dystonia
(916 focal, 123 segmental, 17 multifocal, and 18 generalized), as well as 96 subjects with unclassified dystonia, 200 subjects with Parkinson¹s disease, and 400 neurologically normal individuals. Mutations were identified in 13 subjects with primary dystonia and 1 control. Mutations were found in individuals with cervical dystonia, laryngeal dystonia, blepharospasm, limb dystonia, and segmental dystonia. In addition to coding mutations, a variant in intron 1 was discovered in six dystonia subjects but only 1 control, suggesting the possibility of involvement of this variant as well.
Mutations in the THAP1 gene are responsible for early onset primary torsion dystonia S Bressman, R Saunders-Pullman, T Fuchs, S Gavarini, D Raymond, L Ozelius Late Breaking Session 004
Novel THAP1 mutations in primary dystonia M Ledoux, J Xiao, RF Pfeiffer, Y Zhao, R Bastian, JS Perlmutter, et al.
Late Breaking Poster 001
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