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A movement disorder that manifests in childhood and advances to total incapacitation within a few years.

Primary Dystonia; Idiopathic Torsion Dystonia; Dystonia Musculorum Deformans (Early Onset Primary Torsion Dystonia); Ziehen-Oppenheim Disease; Ziehen-Schwalbe-Oppenheim Syndrome.

First described in 1908 by S. Schwalbe in a Jewish family and in 1911, Oppenheim termed this condition as dystonia musculorum deformans (DMD).

About 10 to 15:100,000 live births. A female predilection has been reported for focal and segmental primary torsion dystonia. Primary Torsion Dystonia is more common among the Ashkenazi Jewish population.

For both early-onset and late-onset primary torsion dystonia, transmission is autosomal dominant with a low penetrance; for the early form, it is 30 to 40% penetrance, and for late-onset primary torsion dystonia, it is even lower at 10 to 15% penetrance. Negative family history does not exclude the diagnosis. The mutation for the early form has been mapped to 9q34, identified as a GAG deletion and called DYT1 gene. The resulting protein, torsinA, is an ATP-binding protein with some similarities to the heat-shock protein superfamily. The mutation of the late-onset primary torsion dystonia has been mapped to 8p21-q22 (DYT 6 gene) and to 18p (DYT 7 gene).

Unknown. However, it has been hypothesized that the dystonic movements originate from a functional disturbance of the basal ganglia (most likely because of an increased striatal inhibition on globus pallidum and substantia nigra) in combination with a severely altered pattern of normal spontaneous neuronal activity. This may affect the thalamic control on planning and execution of movements, as well as brainstem and spinal inhibitory reflexes, and result in the dystonic pattern of pathological cocontraction of agonist and antagonist muscles with abnormal recruitment of more extraneous muscle groups (as seen in the EMG).

The diagnosis is mainly based on clinical findings of involuntary movements. So far, neuroimaging studies (CT, MRI scans), postmortem examinations, and laboratory studies have not revealed any pathological findings in primary torsion dystonia. Perinatal asphyxia is the most common cause for secondary dystonia in children, and among other causes with similar symptoms such as encephalitis, traumatic brain injury, neurotoxins, and drugs, has to be ruled out. Its onset is usually—but not always—in the first 3 years of life. In primary torsion dystonia, most patients are and remain mentally normal; however, patients with severe developmental delay have also been described.

The hallmark of primary torsion dystonia is sustained muscle contractions that often result in twisting, repetitive movements, and/or abnormal postures. Depending on the anatomical sites that are affected by the dystonic movements, primary dystonia can be divided in focal (only one anatomical site, e.g., neck, eyelids, mouth, larynx, hand), multifocal (several, noncontiguous anatomical sites), segmental (contiguous anatomical sites), hemidystonic (limited to one body side), and generalized (leg in combination with other body sites) primary torsion dystonia. Generalized primary torsion dystonia is the most common form in children, whereas the focal and the ...

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