Idiopathic torsion dystonia ITD is a group of movement disorders which is usually inherited in an autosomal dominant manner with reduced penetrance. Most patients with ITD present with focal dystonia at adult age. However, thus far, this common subform remained unmapped chromosomally.
Arch Neurol. Lamberti, Lucchese, S. Available relatives were then directly examined by a trained neurologist.
Dystonia is a general term for a large group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions postures. The muscular contractions may be sustained or come and go intermittent.
There are several forms of dystonia, and dystonia may be a symptom of many diseases and conditions. If you are new to dystonia, it can be a challenging disorder to understand. The words used to describe your specific diagnosis may be confusing. To accurately describe the form of dystonia that an individual has, at least four specific pieces of information must be accounted for:.
Diagnostic issues in Hyperkinetic disorders View all 8 Articles. Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures. Several causative genes have been identified, but their genetic bases still remain elusive.
Alternative titles; symbols. Other entities represented in this entry:. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body summary by Leube et al.
Dystonia is the third most common movement disorder after Parkinsonism and Essential Tremor. There are many disorders affecting the brain which have, as part of their symptoms and signs, dystonic movements affecting part of the body. When we talk about dystonia we are usually referring to a movement disorder is in which there are excessive muscle movements and abnormal postures without any other significant neurological signs apart from a tremor.
The genetics of the dystonias — a review based on the new classification of the dystonias. Carlos Henrique F. Francisco Eduardo C.
Focal dystonia is the most common type of adult-onset dystonia; however, it infrequently affects truncal musculature. Although commonly attributed to secondary etiologies such as a neurodegenerative illness or tardive syndromes, the entity of idiopathic adult-onset truncal dystonia has only been previously described in a few case reports and small case series. Here we characterize seven cases of adult-onset primary truncal dystonia and present them within the scope of the existing literature.
Dystonia is defined as involuntary sustained muscle contractions producing twisting or squeezing movements and abnormal postures. The movements can be stereotyped and repetitive and they may vary in speed from rapid to slow; sustained contractions can result in fixed postures. Dystonic disorders are classified into primary and secondary forms. Several types of adult-onset primary dystonia have been identified but all share the characteristic that dystonia including tremor is the sole neurologic feature.