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)

We studied five patients with a combination of Meige's syndrome (blepharospasm-oromandibular dystonia) and myasthenia gravis. The coexistence of two disorders impairing eyelid opening led to diagnostic confusion and delayed appropriate therapy. Detailed oculographic monitoring of one patient indicated that eye position drifting due to myasthenic oculomotor fatigue was corrected by eye blinks, and that blinks tended to occur with slower saccades. Our observations suggest that fatigue of extraocular muscles may lead to synkinetic blinking and perhaps eventually to autonomous blepharospasm.
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PMID:Coexistent Meige's syndrome and myasthenia gravis. A relationship between blinking and extraocular muscle fatigue? 363 79

Increasing numbers of patients are being recognized with neurological abnormalities associated with the immunochemical changes of plasma cell disease. To illustrate the wide spectrum of clinical disorders that can be found, I discuss in detail 5 patients: 2 with neuropathy, 3 with amyotrophic lateral sclerosis (ALS), all of whom had serum monoclonal paraproteinemia. In addition, I report in tabular form 6 patients with paraproteinemia and the following clinical presentations: 1) systemic lupus with polyneuropathy and severe cerebritis, 2) myasthenia gravis with thymoma, 3) polymyositis, 4) polymyositis, arthritis and Grave's disease, 5) relapsing polyneuritis (one of the original patients diagnosed by Austin) and 6) ALS, dystonia and parkinsonism. Major improvements in clinical condition occurred sometimes, but not always, coincident with reductions in the levels of the paraprotein using prednisone, cyclophosphamide, chlorambucil and plasma exchange treatments even in some of the patients who had the clinical appearance of ALS. Patients with neuromuscular diseases should be routinely screened with serum immunoelectrophoresis for monoclonal gammopathy. If a monoclonal gammopathy is found and if the disease is serious, then those patients should be treated as if they had an autoimmune disorder.
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PMID:Neuropathy and motor neuron syndromes associated with plasma cell disease. 647 86

The authors describe a Chinese girl with myasthenia gravis and progressive dystonia with marked diurnal fluctuation. A combination of L-dopa and pyridostigmine therapy resulted in control of the myasthenic symptoms and disappearance of the dystonia.
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PMID:A patient with myasthenia gravis and progressive dystonia with marked diurnal fluctuation. 651 May 66

Patients with Parkinson's disease (PD) are subject to a wide range of fluctuations in their clinical state, most of them treatment-related but some more disease-related. Short-duration motor fluctuations include freezing and paradoxic kinesis, lasting seconds to minutes. It is important to distinguish between "off" period freezing, which may be helped by measures to increase time "on," and freezing that is present in both "on" and "off" periods, which is difficult if not impossible to treat. Medium-duration fluctuations associated with chronic L-dopa treatment include wearing-off and "on-off" responses, which can involve (a) return of parkinsonism, (b) dyskinesias, and (c) non-motor fluctuations. A poorly understood long-duration pharmacodynamic response to L-dopa lasting up to 2 weeks may also be seen. This may manifest as late deterioration after L-dopa is withdrawn. More importantly, and more commonly, it is important to recognize that the ultimate effect of an alteration in L-dopa treatment may take 2 weeks to equilibrate in the brain. "Optimization" of L-dopa therapy is therefore not a realistic expectation during an inpatient admission and is instead primarily a long-term outpatient procedure. The "off" state is not the same as untreated PD, and may represent rebound worsening after the beneficial effect of L-dopa has worn off. Sometimes there is also transient worsening at the onset of effect of a dose. "Off' period dyskinesias tend to be relatively fixed, painful, and dystonic. Biphasic (beginning and/or end of dose) dyskinesias are often severe, ballistic, and stereotypic. Peak dose or "square wave" dyskinesias comprise a mix of mobile dystonia or chorea that is usually painless. Many patients experience any combination of panic, anxiety, and depression in their "off" periods, and many also experience pain, with instant relief as they turn "on." Other parameters that may vary between the "on" and "off" states include urinary and bowel dysfunction, blood pressure, respiratory function, and sweating attacks. Most but not all of these phenomena can be related to a simplistic but nevertheless usually practically useful model of differing levels of central dopaminergic stimulation. In difficult cases, an acute apomorphine challenge analogous to the effects of a "Tensilon test" in myasthenia gravis may help to determine whether a given clinical feature represents over- or understimulation of central dopamine receptors.
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PMID:Classification of fluctuations in patients with Parkinson's disease. 971 77

We report the case of a 49-year-old woman who has the rare combination of myasthenia gravis and cervical dystonia. She was treated with botulinum toxin type A with good response and no evidence of deterioration of the myasthenic symptoms. We therefore conclude that it is possible to use botulinum toxin in the presence of defective neuromuscular transmission.
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PMID:Treatment of cervical dystonia with botulinum toxin in a patient with myasthenia gravis. 1066 97

"A propensity to bend the trunk forward" and "the chin is now almost immovably bent down upon the sternum" were described by James Parkinson in patients with Parkinson's disease (PD). The term "dropped head" was first reported in "Gerlier disease" in Switzerland and 'kubisagari' in Japan and since then also reported in myositis, myopathy, myasthenia gravis, amyotrophic lateral sclerosis, neuropathy, and hypothyroidism. Disproportionate antecollis occurs in about half cases of multiple system atrophy (MSA) and is considered dystonic in nature. Dropped head is considered rare in PD, both in advanced and early stages of PD. However, it is known to progress subacutely over a period of several days. In my experience, dropped head is relatively common in PD. The mechanism of dropped head in PD is either dystonia of flexor neck muscles or weakness of extensor neck muscles. The response of dropped head to various anti-parkinsonian medications is rather inconsistent. Levodopa is reported to induce amelioration in some patients while dopamine agonists can cause deterioration. Muscle afferent block with lidocaine and ethanol is reported to be effective, while the effect of botulinum toxin injection into the affected muscles is limited. The effect of stereotaxic neurosurgery on dropped head is controversial. Early diagnosis and prompt treatment is necessary to prevent muscle damage associated with longterm overstretch of extensor neck muscles.
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PMID:Dropped head in Parkinson's disease. 1713 Dec 24

Head drop is characterized by marked anterior flexion of the cervical spine, caused by weakness of the neck extensors or by increased tone of the flexor muscles. We report a woman with Parkinson's disease and head drop not due to cervical dystonia (a common cause of antecollis in parkinsonisms). Clinical, radiological, and neurophysiological features together with responsiveness to anticholinesterases and plasma exchanges indicated the possibility of a concomitant myasthenia gravis.
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PMID:Myasthenia gravis: an unrecognized cause of head drop in Parkinson's disease. 1745 60

Camptocormia (CC) is defined as a trunkal flexion which worsens while standing, sitting and walking and disappears in the supine position. CC is a well-known clinical phenomenon in patients with generalized neuromuscular disorders like polymyositis, myasthenia gravis or motor neuron diseases, and it is also described in the context of movement disorders like Parkinson's disease (PD) or multiple system atrophy. In association with PD, CC seems to be a rare symptom which occurs preferentially in late stages of the disease. Currently, there are 3 main hypotheses on the pathogenesis of CC in PD, i.e. a focal myopathy of the trunk muscles, axial dystonia and a drug-induced etiology. This review gives a synopsis and critical acclaim of these 3 etiologies and refers to the current study data and possible treatment strategies.
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PMID:Camptocormia in Parkinson's disease: a review of the literature. 2138 82

In this study, we present two cases of different eye movement disorders with variable case histories but with the same end stage; abduction paresis of one of the eyes, which ceased when the other eye was covered. Our differential diagnosis is that either the ocular form of myasthenia gravis, convergence spasm or ocular myotonia could explain the symptoms. However, we hypothesize that the clinical picture corresponds to pseudo abducens palsy or focal dystonia of the extraocular muscle, which in turn could be the result of impaired inhibition of the tonic resting activity of the antagonistic medial rectus muscle. We offer an explanation for the patomechanism of pseudoabducens palsy and the variants of internuclear ophthalmoplegia.
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PMID:[Pseudo abducens palsy]. 2186 94

Myasthenia gravis is a chronic neuromuscular disorder that causes skeletal muscle weakness. Typically, myasthenia gravis affects the ocular, bulbar, neck, proximal limbs, and respiratory muscles. Although the presentation is typically observed with complaints of vision and bulbar symptoms such as diplopia, dystonia, and dysphagia, this article presents a case study of an elderly man with a history of increasing upper extremity weakness with complaints of worsening hand dexterity and intermittent episodes of expressive aphasia. After cervical laminectomy with fusion, this gentleman was admitted to the medical intensive care unit, in a complete myasthenic crisis.
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PMID:Myasthenia Gravis Presentation After a Cervical Laminectomy With Fusion. 2725 55


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