Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Episodic ataxia type1 (EA1) is an autosomal dominant disorder characterised by episodes of ataxia, dysarthria, tremor and visual disturbances lasting for seconds or minutes, precipitated by physical and emotional stress, startle or sudden movements. In addition there is continuous myokymia. Phenotypic variants such as the combination with epilepsy, shortening of the Achilles tendon in children, transient postural abnormalities in infancy, and a very few patients with longer lasting episodes have been reported. We describe a 10-year-old girl with EA1 who has distal weakness with paresis of the extensors of the feet and prolonged spells of limb stiffness (neuromyotonia) lasting up to 12 hours. A novel single nucleotide change at position 785 T > C that alters a highly conserved residue in the third transmembrane segment of the voltage-gated potassium channel Kv1.1 was found.
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PMID:Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. 1512 17

A 71-year-old man had recurrent spells of transient diplopia for about four years. Vertical diplopia were induced by downward gaze, mostly to the lower-left, and lasted for about ten seconds. During the spells, limitation in elevation of the left eye was observed. Other neurological examinations were normal except for a minor paresis of the left trochlear nerve revealed only by detailed neuroophthalmological examination. The patient was treated with carbamazepine 200 mg daily, which abolished the spells. He was diagnosed to have idiopathic ocular neuromyotonia of the left third or fourth nerve. Ocular neuromyotonia is a rare disturbance of ocular motility, characterized by paroxysmal monocular involuntary spasms of one or more extraocular muscles supplied by the third, fourth or sixth cranial nerves. Past studies showed that most patients had radiation therapy to the parasellar or sellar regions. Slight injury to the peripheral nerves such as one caused by radiation may have an important role in the development of ocular neuromyotonia. Furthermore, patients with ocular neuromyotonia often benefit from the use of carbamazepine, a membrane-stabilizing agent. We report a case of idiopathic ocular neuromyotonia without history of damage to the cranial nerves. It is the first report in Japan.
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PMID:[Case of ocular neuromyotonia with transient and gaze-induced diplopia]. 1763 7

Ocular neuromyotonia is a rare disease that is diagnosed mainly in patients treated with radiation. All such patients described in the literature presented with temporary diplopic images as a common symptom. In our case, the patient described an abducens paresis of the right eye combined with a sporadic exotropia half a year after radiation treatment of an epipharynx carcinoma. An adduction deficit on the right side could be triggered by holding the gaze to the right over a longer period of time, leading to exotropia in the primary position and gaze to the left. Symptoms were reduced with carbamazepine.
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PMID:[Ocular neuromyotonia after radiation therapy]. 1860 4

Diplopia is a frequent neuro-ophthalmologic symptom with diverse etiologies. This article describes elementary diagnostic tests and frequent causes of diplopia. Monocular diplopia persists when the other eye is closed and usually disappears when the patient looks through a pinhole. It is usually caused by errors in the optical media of the eye and has to be differentiated from spectacle-induced side effect and non-organic disorders. A sign of non-organic etiology is absence of change in image position when the head is tilted. Binocular diplopia disappears regardless of which eye is closed. Binocular diplopia occurs when the images of both eyes cannot be fused. The most frequent direct cause of diplopia is acquired strabismus. Knowledge of several specific types of strabismus enables efficient patient management. Congenital and decompensating strabismus like accommodative esotropia, pathophoria, strabismus surso- and deorsoadductorius, retraction syndrome, Brown's syndrome and esotropia in high myopia only need ophthalmologic treatment. Orbital injury, orbital tumor, ocular myositis, Graves orbitopathy and vascular disease usually require multidisciplinary management. Neurogenic paresis, superior oblique myokymia, ocular neuromyotonia, myasthenia, chronic progressive external ophthalmoplegia (CPEO), internuclear ophthalmoplegia (INO) and skew deviation require specific neurologic examination. Treatment of diplopia includes treatment of the fundamental disorder, monocular occlusion, prisms and strabismus surgery.
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PMID:How to deal with diplopia. 2298 79

Ocular neuromyotonia is an unusual condition in which sustained, undesired contraction of one or more extraocular muscles occurs after normal muscle activation. Although most commonly reported after paraseller cranial irradiation for tumor, chronic nonaneurysmal vascular compression of the third nerve can produce partial ocular motor nerve paresis and ocular neuromyotonia. A 75-year-old woman presented with intermittent left-gaze-evoked binocular diplopia. She had an incomplete right third nerve palsy but became symptomatically diplopic and esotropic upon sustained left gaze. High-resolution brain magnetic resonance imaging showed displacement of the right posterior communicating artery and contact with the right third nerve. Gaze-evoked diplopia resolved with carbamazepine, but a partial third nerve paresis remained.
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PMID:Partial third nerve palsy and ocular neuromyotonia from displacement of posterior communicating artery detected by high-resolution MRI. 2391 69