Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The syndrome of primary lateral sclerosis (PLS) has been reported clinically on many occasions. Pathologic confirmation in the modern era, however, has generally been lacking. In a recently reported case of PLS, the disorder was complicated by a pontine infarct. We describe a 65-year-old woman whose illness began with spastic dysarthria, which gradually worsened to the point that 18 months later she could barely utter a sound. Meanwhile, dysphagia, brisk reflexes, and a pseudobulbar affect had developed. Three years after onset she had a spastic contractured right-sided hemiplegia and walked with short shuffling steps. The spasticity slowly progressed, and she died of aspiration pneumonia 3.5 years after the onset of dysarthria. Neuropathologic examination showed bilateral atrophy of the precentral gyri, which microscopically showed a paucity of Betz cells. There was loss of myelin throughout the corticospinal system, yet the anterior-horn cells of the spinal cord and hypoglossal nuclei were well preserved. Intracytoplasmic eosinophilic inclusion bodies, of unknown cause and significance, were observed in occasional motor neurons, one in the hypoglossal nucleus and two in spinal cord anterior horns. Clinically and pathologically, this case meets the criteria for PLS.
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PMID:Primary lateral sclerosis: a case report. 729 6

Deficiency of liver arginase (AI) is characterized clinically by hyperargininemia, progressive mental impairment, growth retardation, spasticity, and periodic episodes of hyperammonemia. The rarest of the inborn errors of urea cycle enzymes, it has been considered the least life-threatening, by virtue of the typical absence of catastrophic neonatal hyperammonemia and its compatibility with a longer life span. This has been attributed to the persistence of some ureagenesis in these patients through the activity of a second isozyme of arginase (AII) located predominantly in the kidney. We have treated a number of arginase-deficient patients into young adulthood. While they are severely retarded and wheelchair-bound, their general medical care has been quite tractable. Recently, however, two of the oldest (M.U., age 20, and M.O., age 22) underwent rapid deterioration, ending in hyperammonemic coma and death, precipitated by relatively minor viral respiratory illnesses inducing a catabolic state with increased endogenous nitrogen load. In both cases, postmortem examination revealed severe global cerebral edema and aspiration pneumonia. Enzyme assays confirmed the absence of AI activity in the livers of both patients. In contrast, AII activity (identified by its different cation cofactor requirements and lack of precipitation with anti-AI antibody) was markedly elevated in kidney tissues, 20-fold in M.O. and 34-fold in M.U. Terminal plasma arginine (1500 mumols/l) and ammonia (1693 mmol/l) levels of M.U. were substantially higher than those of M.O. (348 mumols/l and 259 mumols/l, respectively). By Northern blot analysis, AI mRNA was detected in M.O.'s liver but not in M.U.'s; similarly, anti-AI crossreacting material was observed by Western blot in M.O. only. These findings indicate that, despite their more long-lived course, patients with arginase deficiency remain vulnerable to the same catastrophic events of hyperammonemia that patients with other urea cycle disorders typically suffer in infancy. Further, unlike those other disorders, an attempt is made to compensate for the primary enzyme deficiency by induction of another isozyme in a different tissue. Such substrate-stimulated induction of an enzyme may be unique in a medical genetics setting and raises novel options for eventual gene therapy of this disorder.
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PMID:Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. 845 80

Selective dorsal rhizotomy (SDR) has been shown to be an effective treatment for the spasticity of cerebral palsy, but few studies have addressed specifically the side effects of the procedure. A retrospective study was performed to determine the frequency and nature of complications in 158 children who had undergone SDR at British Columbia's Children's Hospital from 1987 to 1996. Intraoperative, preoperative (immediate postoperative until discharge at approximately 7 days) and postdischarge complications occurred in 3.8, 43.6 and 30% of patients, respectively. The most common intraoperative complication was aspiration pneumonia, which was experienced by 2 patients (1.3%). Perioperatively, sensory changes were found in 8.9% of the children, and transient urinary retention in 4.4%. Complications after discharge included back pain starting more than 6 months after surgery in 10.8%, sensory changes in 13.9%, and neurogenic bladder or bowel problems in 12.7%. Persistent sensory changes occurred in 3.8%, were not important functionally, and tended to occur in patients with the largest amount of dorsal root tissue cut. In 8 patients (5.1%), bladder and/or bowel dysfunction attributed to the SDR was present at the latest follow-up, although in only 2 patients (1.3%) this dysfunction was a definite complication of the rhizotomy. The use of pudendal monitoring and/or cutting less than 50% of the S2 roots may have been associated with a lower incidence of long-term sphincter dysfunction. Data about the nature and frequency of complications may result in further modifications to the SDR procedure, and is critical for counseling about SDR and alternative options available for treatment of the child with spastic cerebral palsy.
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PMID:Complications after selective posterior rhizotomy for spasticity in children with cerebral palsy. 978 7

We describe 2 children with severe spastic quadriplegic cerebral palsy (CP) who have significant drooling and frequent aspiration pneumonia. They underwent simultaneous botulinum toxin type A (BTX-A) injections to salivary glands for drooling and prevention of aspiration pneumonia along with single-event multilevel chemoneurolysis (SEMLC) with BTX-A and 5% phenol for severe diffuse spasticity. There was significant improvement in drooling, frequency of aspiration pneumonia, and spasticity without adverse effect. BTX-A injections into the salivary glands, in addition to SEMLC, for these 2 children with medically complicated severe spastic quadriplegic CP, were safe and highly successful procedures, which improved their health-related quality of life.
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PMID:Botulinum toxin type a injections to salivary glands: combination with single event multilevel chemoneurolysis in 2 children with severe spastic quadriplegic cerebral palsy. 1640 53

Digestive surgeons should form part of the multidisciplinary team managing patients with oropharyngeal dysphagia. These patients can be diagnosed through clinical methods and complementary investigations such as videofluoroscopy and pharyngoesophageal manometry. These techniques also allow specific treatment to be selected. Up to one-third of patients with dysphagia suffer from malnutrition as a result of alterations in food bolus transport. Furthermore, up to two-thirds show alterations in swallowing safety (penetrations and aspirations, especially when swallowing liquids), as well as a high risk of respiratory infections and aspiration pneumonia. Increasing food bolus viscosity to 3500-4000 mPas (pudding viscosity) improves the effectiveness of swallowing and reduces the risk of aspirations. Botulinic toxin injection in the upper esophageal sphincter is indicated in patients with spasticity of neuromuscular origin. Cricopharyngeal myotomy is the basis of treatment for Zenker's diverticulum and is also indicated in patients with alterations in the upper esophageal sphincter and preserved oropharyngeal motor response.
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PMID:[Diagnosis and treatment of functional oropharyngeal dysphagia. Features of interest to the digestive surgeon]. 1778 40

Autonomic dysreflexia (AD) is not an uncommon clinical condition and it is usually detected in patients with complete spinal injuries at or above thoracic 6th vertebral level (T 6). This condition is reported to occur in 48- 60% of cases of spinal cord injury at or above the level of T6. But AD due to injury below T6 is rare. The basic mechanism is thought to be due to excessive, uncontrolled activation of sympathetic system. In the present case, we discuss a persistent AD in 55-yr-old tetraplegic patient with C5 American Spinal Injury Association (ASIA) grade A lesion due to a fall from 10 metre height. MRI examination showed C5 and C6 bi-facets fracture and dislocation with canal compromise. Wiring and fusion was performed but recurrent mucous plugging and aspiration pneumonia and urinary tract infection happened during the hospital stay. Three months later, he was re-admitted with multiple pressure sores, pneumonia, sepsis and high blood pressure. He was administered with nifedepine but the blood pressure kept fluctuating. The present study highlights how the precipitating factors like concomitant urinary tract infection, decubitus ulcers, spasticity triggered the AD attack. The knowledge of the AD and its proper diagnosis and management may be beneficial to all clinicians and the present article attempts to highlight such.
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PMID:An interesting case of autonomic dysreflexia. 1999 83

We report the successful management of general anesthesia for a patient with Pelizaeus-Merzbacher disease (PMD). PMD is one of a group of progressive, degenerative disorders of the cerebral white matter. The typical clinical manifestations of PMD include psychomotor retardation, nystagmus, abnormal muscle tone, seizures, and cognitive impairment. General anesthesia for a patient with PMD may be difficult mainly because of seizures and airway complications related to poor pharyngeal muscle control. In addition, the possibility of exacerbation of spasticity should be considered. A 20-year-old man with PMD required removal of impacted wisdom teeth under general anesthesia. General anesthesia was induced with thiamylal, fentanyl, and desflurane. Anesthesia was maintained with desflurane and continuous intravenous remifentanil under bispectral index and train-of-4 monitoring. Anesthesia lasted 1 hour 20 minutes and was completed uneventfully. Airway complications, seizures, and exacerbation of spasticity did not occur postoperatively. Preoperatively, our patient had no history of epilepsy attacks or aspiration pneumonia, and no clinical symptoms of gastroesophageal reflux disease. Therefore, exacerbation of spasticity was one of the most likely potential complications. Identification of these associated conditions and evaluation of risk factors during preoperative examination is important for performing safe anesthesia in these patients.
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PMID:General Anesthesia for a Patient With Pelizaeus-Merzbacher Disease. 2726 67

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of the motor neuron, which selectively affects it both at central (first motor-neuron) and peripheral level (second motor-neuron). The disease shows up at a mean age of 56 years and the most affected are males. Although ALS may start as a bulbar or spinal disease, with the progression of the disease typically both become evident. Pharmacological approved treatments for ALS are still limited and include riluzole and edaravone which improve survival over time. Despite this, ALS leads to progressive muscle involvement and requires a complex multidisciplinary approach to manage increasing disability which goes beyond motor neurons. Sialorrhea is, amongst others, one of the most disabling symptoms in ALS. The complexity in managing saliva is due to a muscular spasticity and to a scarce palatino-lingual muscles control, rather than to an overproduction of saliva. These features could increase the risk of aspiration pneumonia and limit the use of noninvasive mechanical ventilation. We reviewed the treatment for sialorrhea in ALS patients that are available at this time, emphasizing pros and cons for each approach. Our purpose is to create a practical tool for the diagnosis, in order to facilitate the quantification and management of sialorrhea in everyday practice.
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PMID:Sialorrhea in patients with ALS: current treatment options. 3111 68

This is the first case report describing a laparoscopic fundoplication in a child with an intrathecal Baclofen pump which was inserted because of severe spasticity secondary to cerebral palsy. The child had symptoms of gastroesophageal reflux with recurrent episodes of aspiration pneumonia. These were managed with a gastrostomy and conservative therapy with no success. The presence of an intrathecal Baclofen pump makes abdominal surgery challenging and carries the risk of pump infection with its associated sequelae. However, we performed a successful laparoscopic fundoplication with no intraoperative complications and the child was asymptomatic at 18 months follow-up.
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PMID:Laparoscopic fundoplication for a child with abdominal intrathecal Baclofen pump. 3143 37