Drag-Oppenheim Syndrome

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The torsion dystonia (synonyms: Oppenheim syndrome , Schwalbe torsion dystonia , idiopathic torsion dystonia , Dystonia muscular deformans , Early onset torsion dystonia ) refers to a generalized dystonia , a rare form of hyperkinetic movement disorders. It is a primary, idiopathic , generalized , early onset (childhood or adolescence) torsional dystonia. Hermann Oppenheim is considered to be the first to describe it (1911) .

distribution

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

Cause and origin

  • mostly autosomal dominant (rarely autosomal recessive or X-linked ) inherited gene mutation (30-40% penetrance)
  • Deletion of a GAG triplet ( guanine , adenine = nucleic base, basic building block of the nucleic acids DNA and RNA ) in the DYT1 gene on chromosome 9q34 (long arm of chromosome 9)
  • this gene codes for the ATP-binding protein torsin A.
  • Localization of torsin A ubiquitously in neurons of the CNS
  • Torsin A has the function of a chaperone in the endoplasmic reticulum and in the nuclear membrane (proteins that help newly synthesized proteins to fold correctly)
  • Torsin A may interact with the dopamine transporter and be involved in intracellular transport. The cause of dystonias is therefore a disruption of the regulation of the non-voluntary motor function (sometimes also the voluntary motor function) in the area of ​​the basal ganglia ( e.g. due to a disturbed dopamine balance and defective proteins)

The globus pallidus internus (GABAerg) plays a central role in the pathophysiological model of Oppenheim's dystonia . This has an inhibitory effect on the thalamo-cortical neurons. If this inhibition is missing, hyperkinetic movement disorders occur.

Clinical manifestations

Movement disorder ( hyperkinesis ) with involuntary, repetitive and persistent muscle contractions in one or more regions of the body, often resulting in twisting and repetitive movements or abnormal postures. Symptoms usually onset in one arm or leg in middle or late childhood. The majority of patients will generalize over the next five years . A typical feature of dystonia is an increase in motor activity (action dystonia) as well as in stressful and tense situations.

  • Over-extension / flexion of the hand
  • Over-inversion of the foot
  • worm-like movements
  • Torsion of the spine
  • Dromedary Gait (Dromedary Gang)
  • above-average cognitive functions

Investigation methods

  • Anamnesis (also family, medication)
  • clinical signs
  • Recognition of typical movement patterns
  • Magnetic resonance imaging (usually no noticeable structural lesions)
  • Positron emission tomography (changes in regional glucose utilization)
  • EEG
  • Blood count
  • Urine sample
  • genetic examination

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

Differential diagnosis

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

therapy

forecast

The course of the disease can be very variable, so it is difficult to make a prognosis. In general, it can be said that if you start earlier, the likelihood of generalization increases.

Despite frequent generalization, around 75% of patients can walk and lead an independent life. With the modern therapy options, they have a relatively good quality of life.

literature

  • S. Bressman: Genetics of dystonia. In: Journal of neural transmission. Supplement. Number 70, 2006, pp. 489-495, ISSN  0303-6995 . PMID 17017572 . (Review).
Individual evidence
  1. ↑ a b S1 guideline dystonia of the German Society for Neurology. In: AWMF online (as of 2008)
  2. ^ Christoph Kamm: Early onset torsion dystonia (Oppenheim's dystonia). In: Orphanet Journal of Rare Diseases. 1, 2006, p. 48, doi : 10.1186 / 1750-1172-1-48 .
  3. ↑ Roswell Eldridge, Anne Harlan, IrvingS Cooper, Manuel Riklan: SUPERIOR INTELLIGENCE IN RECESSIVELY INHERITED TORSION DYSTONIA . In: The Lancet . tape 295 , no. 7637 , January 1970, ISSN  0140-6736 , p. 65-67 , doi : 10.1016 / S0140-6736 (70) 91848-9 ( thelancet.com [accessed June 28, 2018]).
  4. ↑ Klinikum.uni-heidelberg: Page no longer available , search in web archives: Neurosurgery - deep brain stimulation in generalized dystonia . @1@ 2Template: Toter Link / www.klinikum.uni-heidelberg.delast accessed on July 16, 2010