Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Camptocormia is a disabling pathological, non-fixed, forward bending of the trunk. The clinical definition using only the bending angle is insufficient; it should include the subjectively perceived inability to stand upright, occurrence of back pain, typical individual complaints, and need for walking aids and compensatory signs (e.g. back-swept wing sign). Due to the heterogeneous etiologies of camptocormia a broad diagnostic approach is necessary. Camptocormia is most frequently encountered in movement disorders (PD and dystonia) and muscles diseases (myositis and myopathy, mainly facio-scapulo-humeral muscular dystrophy (FSHD)). The main diagnostic aim is to discover the etiology by looking for signs of the underlying disease in the neurological examination, EMG, muscle MRI and possibly biopsy. PD and probably myositic camptocormia can be divided into an acute and a chronic stage according to the duration of camptocormia and the findings in the short time inversion recovery (STIR) and T1 sequences of paravertebral muscle MRI. There is no established treatment of camptocormia resulting from any etiology. Case series suggest that deep brain stimulation (DBS) of the subthalamic nucleus (STN-DBS) is effective in the acute but not the chronic stage of PD camptocormia. In chronic stages with degenerated muscles, treatment options are limited to orthoses, walking aids, physiotherapy and pain therapy. In acute myositic camptocormia an escalation strategy with different immunosuppressive drugs is recommended. In dystonic camptocormia, as in dystonia in general, case reports have shown botulinum toxin and DBS of the globus pallidus internus (GPi-DBS) to be effective. Camptocormia in connection with primary myopathies should be treated according to the underlying illness.
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PMID:Pathophysiological Concepts and Treatment of Camptocormia. 2731 57

Pisa syndrome, defined as dystonia leading to lateral flexion of the spine, is an increasingly recognized complicating factor in the treatment of Parkinson's disease (PD). Symptoms may persist despite medical therapy, or medical therapy may not be tolerated due to adverse effects. Here, we demonstrate the long-term efficacy of deep brain stimulation (DBS) at the globus pallidus internus (GPi) for the treatment of Pisa syndrome. One patient with Pisa syndrome and Parkinson disease underwent bilateral GPi DBS with computed tomography (CT)-and microelectrode-based guidance. Follow-up with neurosurgery and neurology was done over a four-year period. The patient's axial deformity decreased from approximately 45 to 25 degrees, and he reported significant relief from back pain. Bilateral GPi DBS is a safe and effective option for Pisa syndrome in patients with PD.
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PMID:Long-term Outcome of Globus Pallidus Internus Stimulation for Pisa Syndrome. 3089 79


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