Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Most bodily functions require the coordinated actions of complementary and supplementary paired muscle groups. Where this essential muscular cooperation is lacking, hollow organs may burst and others become literally screwed up, giving rise to many similar spastic diseases such as Torticollis, Twisted ovarian cyst, Torsion of the Testis, Volvulus of the intestines, Varicose Veins, Megacolon, Aortamegaly, Scoliosis, Erb's Palsy, Peyronie's Disease, Main-en-Griffe, Undescended Foot (Pes Cavus), Talipes, Strabismus. Spasm is "panenepidemic" and unclassified examples of Torsion Dystonia and Dyskinesia really are as common as debt and taxes.
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PMID:The universal, muscular chain reaction, muscle spasm, torsions, ruptures and extravasations. Chameleons of pathology and some manifestations of simple muscular disorders. 721 43

Leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of a 19-year-old boy with early-onset Leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis. He was born of healthy parents after an uneventful pregnancy and delivery. At the age of 2 1/2 years, after a minor respiratory infection, he developed unstable, broad-based gait and tremor of the hands. These symptoms persisted for the next several years, when ataxia became more prominent. Difficulty in swallowing, dysarthria, trunk dystonia, and marked dyskinesia of the arms and hands gradually developed. Nystagmus, transient ptosis, and strabismus also appeared. Abnormal laboratory findings included elevated plasma and cerebrospinal fluid lactate and pyruvate, with an abnormal lactate/pyruvate ratio. Cranial computed tomography and magnetic resonance imaging demonstrated signs of cerebellar atrophy, bilateral and symmetric hypodensities in the lentiform nucleus and thalamus, and transient hyperintensities of cerebral peduncles in T2-weighted sequences suggestive of Leigh disease. Muscle biopsy revealed isolated fiber atrophy, necrotic fibers undergoing phagocytosis, and no ragged-red fibers. The measured catalytic activity of cytochrome c oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c oxidase deficiency No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. The boy is currently receiving levodopa therapy, creatine monohydrate, and a high dosage of thiamine and lipoic acid, his condition is stabilized, and extrapyramidal symptoms are less pronounced.
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PMID:Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. 1151 Sep 39

We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal ataxia, strabismus, and progressive spasticity and hyperreflexia of the lower limbs. Extrapyramidal dyskinesia and epilepsy, other main clinical features of pontocerebellar hypoplasia, are absent. The older sibling also has a high arched palate, triangular-shaped face, thoracolumbar scoliosis, pectus carinatum, kyphosis, cubitus valgus, arachnodactyly, long extremities, and a tall stature, which were not previously reported in association with pontocerebellar hypoplasia. The clinical phenotype should be expanded, especially within type II, with the reports of additional cases.
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PMID:Pontocerebellar hypoplasia in two siblings with dysmorphic features. 1191 77

West syndrome is an age-dependent epileptic encephalopathy. Despite potential side effects, hormonal therapy remains the main treatment for West syndrome. Here, we report on 10 patients receiving steroid treatment who presented with unusual, mostly hyperkinetic, movements. Facial grimacing, repetitive mouth opening, adduction and abduction of upper and lower extremities, and periodical strabismus in different combinations were observed in all patients, independent of formulation, dose, duration, and efficacy of treatment. Symptoms disappeared in sleep and reappeared immediately on arousal. Dyskinesias stopped gradually after a month of discontinuation of treatment. Repeated EEGs did not show corresponding epileptiform activity. We conclude that these abnormal movements can be attributed to side effects of hormonal treatment.
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PMID:Dyskinesia as a new adverse effect of hormonal treatment in West syndrome. 2455 27

Acquired involuntary eye movement disorders, including noncomitant strabismus, nystagmus, and saccadic dyskinesia, are common ocular manifestations of many neurodegenerative diseases. These patients may experience visual symptoms, such as blurred vision, diplopia, and oscillopsia, which can significantly impact their use of vision. The goal of the management for these patients is to reduce the visual symptoms using any combination of available management strategies. This case report discusses the effective optical management using the combination of spectacle monovision correction and yoked prism to improve visual symptoms in a patient with olivopontocerebellar atrophy.
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PMID:Optical Management Using Monovision and Yoked Prism for Acquired Strabismus and Nystagmus Secondary to a Neurodegenerative Disease. 2792 48

The therapeutic applications of botulinum toxin (BoNT) have grown manifold since its initial approval in 1989 by the US Food and Drug Administration (FDA) for the treatment of strabismus, blepharospasm, and other facial spasms. Although it is the most potent biologic toxin known to man, long-term studies have established its safety in the treatment of a variety of neurologic and non-neurologic disorders. This review focuses on some novel and uncommon uses of BoNT in the treatment of movement disorders, such as oromandibular dystonia, including bruxism, anterocollis, camptocormia, tremor, tics, tardive and levodopa-induced dyskinesia, and restless legs syndrome. Despite a paucity of randomized controlled trials and lack of FDA approval for these movement disorders, there is growing body of evidence that BoNT provides benefit to patients with these hyperkinetic movement disorders and that BoNT is a safe treatment when used by clinicians skilled in the administration of the drug for these conditions.
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PMID:An update on new and unique uses of botulinum toxin in movement disorders. 2888 28