Torsion dystonia

The pull - Oppenheim syndrome (synonyms: Oppenheim syndrome, swallow -drag- Oppenheim syndrome, idiopathic torsion dystonia, dystonia deformans musculorum, Early onset torsion dystonia ) denotes a generalized dystonia, a rare form of hyperkinetic movement disorders. It is a primary, idiopathic, generalized, early onset ( childhood or adolescence ) torsion dystonia. When first described (1911 ) applies Hermann Oppenheim.

Dissemination

The prevalence varies in Europe from about 1:100,000 and 1:300,000. Due to a founder mutation (approx. 350 years ago) the prevalence among Ashkenazi Jews is 5-10 times higher.

Causes and development

  • Usually autosomal dominant (rare autosomal recessive or X-linked ) inherited gene mutation (30-40% penetrance )
  • Deletion of a GAG triplet (guanine, adenine = nucleobase, basic building block of nucleic acids DNA and RNA) in the DYT1 gene on chromosome 9q34 (long arm of chromosome 9 )
  • This gene encodes the ATP -binding protein torsin A
  • Localization of torsin A ubiquitously in neurons of the CNS
  • Torsin A with the endoplasmic reticulum and in the nuclear membrane, the function of a chaperone (proteins that help newly synthesized proteins to fold correctly )
  • Torsin A possibly interacts with the dopamine transporter and is involved in intracellular transport. The cause of dystonia is therefore in a disturbance of the regulation of non - arbitrariness motor skills (partly also the arbitrariness of motor function ) in the region of the basal ganglia ( including through disturbed dopamine household and defective proteins )

A central role in the pathophysiological model of Oppenheim dystonia plays the globus pallidus internus ( GABAergic ). It has an inhibitory effect on the thalamocortical neurons. If this inhibition, there is hyperkinetic movement disorders.

Clinical manifestations

Movement disorder ( hyperkinesis ) with involuntary, recurrent and persistent muscle contractions in one or more regions of the body that frequently cause twisting and repetitive movements or abnormal postures. Onset of symptoms is usually in the middle or late childhood in an arm or leg. For the majority of patients develop in the next five years to a generalization. A typical feature of dystonia is a gain in motor activity (action dystonia ) and in stress and tension situations.

  • Über-Extension/Flexion hand
  • About inversion of the foot
  • Worm-like movements
  • Torsion of the spine
  • Gait dromedary ( camel -course )
  • Normal cognitive functions

Methods of investigation

  • Medical history (including family, drugs)
  • Clinical signs
  • Identifying common patterns of movement
  • Magnetic resonance imaging ( usually no noticeable structural lesions)
  • Positron emission tomography ( changes in regional glucose utilization )
  • EEG
  • Blood count
  • Urine sample
  • Genetic study

Additional symptoms such as rigidity, resting tremor, pyramidal tract signs, cognitive impairment and ataxia are not compatible with primary dystonia.

Differential Diagnosis

Differential diagnoses include metabolic disorders ( CNS, Wilson's disease ) and other forms of dystonia (secondary dystonia ).

Therapy

  • Local: botulinum toxin injection
  • Generalized: anticholinergics
  • Benzodiazepines
  • Intrathecal administration of baclofen
  • Drug combination therapy
  • Deep brain stimulation ( globus pallidus internus both sides )
  • In addition: Physiotherapy (among sensory tricks ), if necessary occupational therapy, speech therapy, psychotherapy

Forecast

The disease course can be designed highly variable, so is difficult to make a forecast. In general it can be said that in earlier beginning the likelihood of generalization increases.

Despite frequent generalization to approximately 75% of patients go and lead an independent life. With modern treatment options so they have a relatively good quality of life.

Hyperkinesia Medical guideline Digital Object Identifier
836484
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