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

Objective: We provide an overview of some biomedical technologies able to relieve everyday impairments in neurological patients.Methods: Two literature searches from 2009 to 2020 were conducted using PubMed, Embase, Cinahl and Scopus. The studies meeting the criteria for eligibility constituted 224 of the 6257 identified studies.Results: The first literature search resulted in the identification of 53 different neurological impairments. The following impairments were selected as the most general: six motor (walking/gait abnormality, paralysis/paresis, hypertonia, dystonia, tremor and ataxia), three cognitive (memory, attention/concentration and executive dysfunction), two sensory (visual and hearing impairments) and three uncategorized impairments (communication impairments, sleep abnormalities and seizures/epilepsies). The second literature search resulted in the identification of 22 biomedical technologies able to compensate or rehabilitate the neurological impairments.Conclusions: This review identified some of the common neurological impairments across diseases and showed that technology can be beneficial for neurological patients by helping them with everyday living. The review also found that different aspects such as personal aspects of the intended users (e.g., impairments) and physical and environmental context of the task play an essential role in the usefulness of the technology.Implications for rehabilitationNeurological diseases are globally the leading cause of disability, whereby there is a great need for rehabilitation of neurological impairments.Assistive technology can compensate for permanent impairments or be used in rehabilitation as an alternative to usual therapy or an adjunct to increase overall therapy time.This study provides an overview of existing assistive technology and how patients with neurological impairments can benefit from technology.
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PMID:A systematic review of impairment focussed technology in neurology. 3260 91

Glutaric aciduria type I (GA1) is a rare organic aciduria characterized by basal ganglia dysfunction and severe dystonia and spasticity for which enteral baclofen is currently first-line therapy. Intrathecal baclofen (ITB) is a promising alternative, given the dose titratability and concentrated delivery of medication to therapeutic targets within the central nervous system. However, the response to ITB in patients with this rare condition has not been previously reported. We present a 15-year-old girl with GA1 and associated hypertonia refractory to extensive, multimodal adjuvant medical therapy including enteral baclofen. An ITB pump was implanted, and after an appropriate baclofen titration, her hypertonia and enteral pharmacologic regimen were both reduced. We demonstrate that ITB is a viable modality for treating refractory dystonia and spasticity secondary to GA1; it can objectively reduce hypertonia, subjectively improve quality of life, and minimize the side effect profile of otherwise extensive pharmacologic therapies.
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PMID:Intrathecal Baclofen for Hypertonia Secondary to Glutaric Aciduria Type I. 3274 33

Combined dorsal and ventral rhizotomy is an effective treatment for patients with concurrent spasticity and dystonia, with the preponderance of complaints relating to their lower extremities. This operative approach provides definitive relief of hypertonia and should be considered after less-invasive techniques have been exhausted. Previously, the surgery has been described through an L1-S1 laminoplasty. In this series, 7 patients underwent a conus-level laminectomy for performing a lumbar dorsal and ventral rhizotomy. Technical challenges included identifying the appropriate-level ventral roots and performing the procedure in children with significant scoliosis. Techniques are described to overcome these obstacles. The technique was found to be safe, with no infections, CSF leaks, or neurogenic bladders.
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PMID:Conus-level combined dorsal and ventral lumbar rhizotomy for treatment of mixed hypertonia: technical note and complications. 3303 4

Aim of the Study: To demonstrate general progression of symptoms in cervical dystonia (CD) on the one hand and improvement of some special symptoms on the other hand after botulinum toxin (BoNT) therapy. Methods: 74 patients with idiopathic CD under continuous treatment in a BoNT outpatient department with at least three injections, completed a short questionnaire. They were asked whether pain, increased muscle tone and tension, reduced mobility of the head, abnormal head position, head tremor, or other symptoms had been present at the onset of BoNT-therapy and which symptoms were present at the time of recruitment. Patients had to rate actual severity of CD in percent of the severity of CD at the onset of BoNT-therapy. The TSUI score was determined by the treating physician. Blood samples were taken to analyze induction of neutralizing antibodies. Results: Mean improvement of CD reported by the patients and scored by the physician was about 50%. The frequency of all symptoms increased with duration of therapy. The symptom most frequently improved was abnormal head position. The longer the time span between onset of symptoms and onset of BoNT-therapy was, the higher was the actual TSUI score and the lower the improvement reported. Twelve patients had positive antibody tests. Conclusions: Patients experience a progression of CD, but recognize improvement of abnormal head position due to BoNT-therapy. The longer patients have been without BoNT- therapy, the poorer is the long-term outcome independent on duration of BoNT treatment. Therefore BoNT-therapy should be initiated as early as possible.
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PMID:Disease Progression of Idiopathic Cervical Dystonia in Spite of Improvement After Botulinum Toxin Therapy. 3328 26


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