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)

The authors present a case of neurovisceral storage disease with the whole of its clinical course confined to adult life (symptoms from 26 to 46 years of age) and marked by mainly neurological symptomatology with dystonia, vertical supranuclear ophthalmoplegia and progressive mental deterioration as the dominant features. From the results of postmortem structural histochemical and chemical analysis the case was diagnosed as Niemann-Pick disease type C. This case, together with sporadic observations reported by other authors, represents a significant shift in our view of the incidence of NPD type C in older age groups.
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PMID:Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C. 641 47

A 42-year-old farmer developed persistent mid-facial segmental pain and Meige's syndrome several months after suffering facial trauma and a fracture of the nose. He was not afflicted by systemic ailments, had no family history of movement disorder and no history of exposure to neuroleptic drugs. He was capable of suppressing his facial pain by performing a ritual that included forcefully tilting his head backwards, lowering of his eyelids and applying strong pressure to his nasion. Exceptionally dystonic movements and elaborate behavioral rituals may serve as a mechanism of pain suppression.
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PMID:Posttraumatic mid-facial pain and Meige's syndrome relieved by pressure on the nasion and retrocollis. 2018 27

A 42-year-old man presented with action-induced, stereotyped posturing of the left leg with task specificity following major traumatic brain injury less than a year earlier. Although adult onset primary leg dystonia is a recognised entity, our patient is unusual in that dystonia was an isolated abnormality without associated spasticity, was not preceded by ipsilateral hemiparesis and remained focal without progression to involve other body regions. MRI brain showed a small area of gliosis in the left frontal subcortical white matter but with no lesions in the basal ganglia or thalamus. The dystonia in our patient almost completely resolved with botulinum toxin therapy.
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PMID:Delayed-onset focal dystonia of the leg secondary to traumatic brain injury. 2234 Nov 45

The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann-Pick disease type C (NP-C) including also type D, resulting from mutations in either the NPC1 or the NPC2 gene. Both Niemann-Pick diseases have an autosomal recessive inheritance and are lysosomal lipid storage disorders, with visceral (type B) or neurovisceral manifestations. The clinical knowledge is updated taking into account recent surveys in large cohort of patients, particularly for type B and type C. The diagnosis of NP-C is often delayed due to the wide spectrum of clinical phenotypes. Systemic manifestations, if present, always precede onset of neurological manifestations. Most common neurological signs are vertical supranuclear gaze palsy, cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Cataplexy, seizures, and dystonia are other common features of NP-C. For both ASM-deficient NPD and NP-C, strategies for laboratory diagnosis of patients and prenatal diagnosis are discussed. Recent progress towards enzyme replacement therapy in type B patients and management of the neurological disease in type C patients are finally highlighted.
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PMID:Niemann-Pick diseases. 2362 94

There have been limited studies regarding stereotactic and functional neurosurgery for lingual dystonia. Here, we report a patient with primary lingual dystonia who showed significant improvement after bilateral deep brain stimulation (DBS). A 42-year-old woman presented with a 5- to 6-year history of tongue protrusion; however, she lacked a significant medical or medication history before onset. She presented with gradually worsening symptoms and was diagnosed with idiopathic lingual dystonia. Her tongue was injected with botulinum toxin on 6 occasions; however, it had a limited effect. Oral medications were ineffective. She underwent DBS since her involuntary tongue movements were causing nocturnal breathing problems. Directional leads were bilaterally inserted into the internal segment of the globus pallidus (GPi). The directional part of each lead was inserted at the GPi bottom on both sides. The posteromedial contacts were used to deliver stimulation. After 1.5 years, the patient's Burke-Fahn-Marsden dystonia rating scale score improved from 9 to 1.5 and 2 to 1 for movement and disability, respectively. This case demonstrated the effectiveness of bilateral GPi-DBS. Placing the directional part of the lead in the GPi bottom could improve the stimulation effects.
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PMID:Bilateral Pallidal Stimulation with Directional Leads for Primary Focal Lingual Dystonia. 3320 54