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SYDNEY, AUSTRALIA – New classification guidelines define dystonia as a movement disorder and shift towards classifying dystonia along the twin axes of clinical characteristics and etiology.
Under the new guidelines from the Movement Disorder Society, dystonia is described as "a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both."
"Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation," the guidelines state.
The guidelines, presented at the international congress of Parkinson’s Disease and Movement Disorders, also describe a new approach to classifying dystonias according to both their phenomenological appearance and etiology. The guidelines also were recently published online (Mov. Dis. 2013 May 6 [doi:10.1002/mds.25475]).
Dr. Mark Hallett, a member of the guidelines review committee, said that this change had come about because of the difficulties in trying to classify individual patients according to a system that assumed a one-to-one match between a particular phenotype and a specific disease entity or cause.
"The problem is that we have patients that have certain characteristics, and there can be many possible causes, while on the other hand, we have individual causes such as individual genetic abnormalities that can have many different phenotypes, many different clinical syndromes associated with them," said Dr. Hallett, chief of the human motor control section of the National Institute of Neurological Disorders and Stroke, Bethesda, Md.
"The way we’re going about this now is having a two-axis approach to the classification of different disorders. One axis is the phenomenological appearance and the other is the etiology, so any individual case would be described as one phenotype and one or more etiologies," he explained.
The first axis of clinical characteristics incorporates information such as age at onset, body distribution, and temporal pattern, while the second axis of etiology examines nervous system pathology and whether the dystonia is inherited, acquired, or idiopathic.
The shift has been driven by the rapid advances in understanding of dystonia, particularly genetic etiologies of the disorder. This understanding will help in therapeutic decision-making, but it will take some time for therapeutic advances to catch up, Dr. Hallett noted.
"At the moment, we’re almost always using relatively nonspecific therapy. Sometimes it is important to get the etiology, but I think our etiologic therapies are still relatively weak," he said in an interview.
The guidelines also move away from the former phenotypic classifications of "primary" and "secondary" dystonia toward the terminology of "isolated" and "combined" dystonia.
Isolated dystonia refers to a situation in which dystonia is the only motor feature, and combined dystonia refers to dystonia combined with other movement disorders such as myoclonus or Parkinsonism.
There were no relevant conflicts of interest or disclosures reported.
SYDNEY, AUSTRALIA – New classification guidelines define dystonia as a movement disorder and shift towards classifying dystonia along the twin axes of clinical characteristics and etiology.
Under the new guidelines from the Movement Disorder Society, dystonia is described as "a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both."
"Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation," the guidelines state.
The guidelines, presented at the international congress of Parkinson’s Disease and Movement Disorders, also describe a new approach to classifying dystonias according to both their phenomenological appearance and etiology. The guidelines also were recently published online (Mov. Dis. 2013 May 6 [doi:10.1002/mds.25475]).
Dr. Mark Hallett, a member of the guidelines review committee, said that this change had come about because of the difficulties in trying to classify individual patients according to a system that assumed a one-to-one match between a particular phenotype and a specific disease entity or cause.
"The problem is that we have patients that have certain characteristics, and there can be many possible causes, while on the other hand, we have individual causes such as individual genetic abnormalities that can have many different phenotypes, many different clinical syndromes associated with them," said Dr. Hallett, chief of the human motor control section of the National Institute of Neurological Disorders and Stroke, Bethesda, Md.
"The way we’re going about this now is having a two-axis approach to the classification of different disorders. One axis is the phenomenological appearance and the other is the etiology, so any individual case would be described as one phenotype and one or more etiologies," he explained.
The first axis of clinical characteristics incorporates information such as age at onset, body distribution, and temporal pattern, while the second axis of etiology examines nervous system pathology and whether the dystonia is inherited, acquired, or idiopathic.
The shift has been driven by the rapid advances in understanding of dystonia, particularly genetic etiologies of the disorder. This understanding will help in therapeutic decision-making, but it will take some time for therapeutic advances to catch up, Dr. Hallett noted.
"At the moment, we’re almost always using relatively nonspecific therapy. Sometimes it is important to get the etiology, but I think our etiologic therapies are still relatively weak," he said in an interview.
The guidelines also move away from the former phenotypic classifications of "primary" and "secondary" dystonia toward the terminology of "isolated" and "combined" dystonia.
Isolated dystonia refers to a situation in which dystonia is the only motor feature, and combined dystonia refers to dystonia combined with other movement disorders such as myoclonus or Parkinsonism.
There were no relevant conflicts of interest or disclosures reported.
SYDNEY, AUSTRALIA – New classification guidelines define dystonia as a movement disorder and shift towards classifying dystonia along the twin axes of clinical characteristics and etiology.
Under the new guidelines from the Movement Disorder Society, dystonia is described as "a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both."
"Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation," the guidelines state.
The guidelines, presented at the international congress of Parkinson’s Disease and Movement Disorders, also describe a new approach to classifying dystonias according to both their phenomenological appearance and etiology. The guidelines also were recently published online (Mov. Dis. 2013 May 6 [doi:10.1002/mds.25475]).
Dr. Mark Hallett, a member of the guidelines review committee, said that this change had come about because of the difficulties in trying to classify individual patients according to a system that assumed a one-to-one match between a particular phenotype and a specific disease entity or cause.
"The problem is that we have patients that have certain characteristics, and there can be many possible causes, while on the other hand, we have individual causes such as individual genetic abnormalities that can have many different phenotypes, many different clinical syndromes associated with them," said Dr. Hallett, chief of the human motor control section of the National Institute of Neurological Disorders and Stroke, Bethesda, Md.
"The way we’re going about this now is having a two-axis approach to the classification of different disorders. One axis is the phenomenological appearance and the other is the etiology, so any individual case would be described as one phenotype and one or more etiologies," he explained.
The first axis of clinical characteristics incorporates information such as age at onset, body distribution, and temporal pattern, while the second axis of etiology examines nervous system pathology and whether the dystonia is inherited, acquired, or idiopathic.
The shift has been driven by the rapid advances in understanding of dystonia, particularly genetic etiologies of the disorder. This understanding will help in therapeutic decision-making, but it will take some time for therapeutic advances to catch up, Dr. Hallett noted.
"At the moment, we’re almost always using relatively nonspecific therapy. Sometimes it is important to get the etiology, but I think our etiologic therapies are still relatively weak," he said in an interview.
The guidelines also move away from the former phenotypic classifications of "primary" and "secondary" dystonia toward the terminology of "isolated" and "combined" dystonia.
Isolated dystonia refers to a situation in which dystonia is the only motor feature, and combined dystonia refers to dystonia combined with other movement disorders such as myoclonus or Parkinsonism.
There were no relevant conflicts of interest or disclosures reported.
AT THE 2013 MDS INTERNATIONAL CONGRESS
