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)

Hypohidrosis refers to diminished sweating in response to appropriate stimuli. This can cause hyperthermia, heat exhaustion and death. The aetiology of hypohidrosis can be divided into exogenous, dermatological and neurological causes. Exogenous causes act either by systemic neurohormonal inhibition of sweating or localised damage to the skin and sweat glands. Dermatological disorders can result from congenital disorders, wherein other ectodermal tissues may also be affected, or acquired disorders in which manifestations of the primary disease predominate. Neurological disorders should be classified based on an upper motor neuron or lower motor neuron pattern of disease. In the former, there is spasticity and hyperactive reflexes whereas in the latter, flaccidity and hypoactive reflexes predominate. Acquired idiopathic generalised anhidrois refers to isolated anhidrosis with no other detectable abnormalities. When approaching a patient with hypohidrois, exogenous causes should first be excluded. Physical examination, paying attention to mucocutaneous manifestations and neurological signs, will dichotomise if the lesion is dermatological or neurological. In the former, a skin biopsy is the investigation of choice. In the latter, one should consider magnetic resonance imaging of the brain and spinal cord for upper motor neuron lesions, nerve conduction tests for lower motor neuron lesions and autonomic nerve function tests for autonomic dysfunction. Finally, if a diagnosis of acquired idiopathic generalised anhidrosis is suspected, a quantitative sudomotor axon reflex test and serum immunoglobulin-E levels may be performed. Treatment involves addressing the underlying condition and avoidance of aggravating factors. Acquired idiopathic generalised anhidrosis responds well to high dose systemic corticosteroids.
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PMID:Approach to hypohidrosis. 2462 71

Muscle hypertonia following upper motor neurone lesions (referred to here as 'spasticity') is a common problem in patients with neurological disease, and its management is one of the major challenges in clinical practice. Understanding the pathogenesis and clinical course of spasticity is essential for the effective management of this condition. The hypertonia initially results from increased excitability of the alpha motor neurones due to an imbalance between the excitatory and inhibitory influences of the vestibulospinal and reticulospinal tracts. This is the 'neural component' of muscle hypertonia. However, usually within 3-4 weeks, changes in the structure and mechanical properties of the paralysed muscles and the effect of thixotropy also contribute to the hypertonia. The selection of the optimal treatment option is often influenced by whether the neural or the non-neural component is more pronounced. Muscle spasticity often interferes with motor function or causes distressing symptoms, such as painful muscle spasms. If untreated, spasticity may also lead to soft tissue shortening (fixed contractures). However, spasticity can also be beneficial to patients. For example, despite severe leg muscle weakness, most hemiplegic patients are able to walk because the spasticity of the extensor muscles braces the lower limb in a rigid pillar. Other reported benefits of spasticity include the maintenance of muscle bulk and bone mineral density and possibly a reduced risk of lower limb deep vein thrombosis. Several factors, such as skin pressure sores, faecal impaction, urinary tract infections and stones in the urinary bladder, can aggravate muscle spasticity. These factors should always be looked for as their adequate treatment is often sufficient to reduce muscle tone without the need for specific antispasticity medication. Therefore, a careful evaluation of the patient's symptoms and their impact on function, and the setting of clear and realistic therapy goals are important prerequisites to treatment. The best treatment outcomes are usually achieved when pharmacological and non-pharmacological treatment modalities are used in tandem. Different drugs are available for the management of spasticity, including oral muscle relaxants, anticonvulsant drugs, intrathecal baclofen, cannabis extract, phenol and alcohol (for peripheral nerve blocks) and botulinum toxin injections. Similarly, there is a range of non-pharmacological methods of treatment, e.g. regular muscle stretching, the use of splints and orthoses, electrical stimulation, etc. Although these are not discussed here, this should not detract from the importance of combining them with antispasticity drugs in order to maximize the clinical benefit of treatment.
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PMID:The pharmacological management of post-stroke muscle spasticity. 2313 34

Inherited white-matter disorders are a broad class of diseases for which treatment and classification are both challenging. Indeed, nearly half of the children presenting with a leukoencephalopathy remain without a specific diagnosis. Here, we report on the application of high-throughput genome and exome sequencing to a cohort of ten individuals with a leukoencephalopathy of unknown etiology and clinically characterized by hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), as well as the identification of compound-heterozygous and homozygous mutations in cytoplasmic aspartyl-tRNA synthetase (DARS). These mutations cause nonsynonymous changes to seven highly conserved amino acids, five of which are unchanged between yeast and man, in the DARS C-terminal lobe adjacent to, or within, the active-site pocket. Intriguingly, HBSL bears a striking resemblance to leukoencephalopathy with brain stem and spinal cord involvement and elevated lactate (LBSL), which is caused by mutations in the mitochondria-specific DARS2, suggesting that these two diseases might share a common underlying molecular pathology. These findings add to the growing body of evidence that mutations in tRNA synthetases can cause a broad range of neurologic disorders.
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PMID:Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. 2364 84

Neurological disorders such as cerebral palsy commonly result in abnormal muscle hyperactivity that negatively effects functional use of the affected limbs. Individuals with cerebral palsy often present with a mix of spasticity and dystonia, and it can be difficult to distinguish between the effects of these types of abnormal tone. Different types of abnormal tone respond differently to treatments such as deep brain stimulation and baclofen. Conventional clinical evaluation techniques provide minimal information for distinguishing abnormal tone characteristics and changes from treatment. Devices that quantify abnormal tone characteristics can help distinguish between the effects of different types of abnormal muscle tone, and help to quantify treatment effects. This paper discusses the development and initial evaluation of MyoSense(TM), a clinician worn device for the quantification and differentiation of abnormal muscle tone. MyoSense evaluates the orientation, speed, and force during clinician manipulation of the affected limbs with a protocol that is similar to conventional practice for evaluating abnormal tone. Evaluation of the MyoSense device, using a mechanical apparatus to simulate abnormal muscle tone, showed good resolution of abnormal tone characteristics. Using a procedure directly modeled after conventional clinical evaluation of abnormal tone, MyoSense data showed good correlation with simulated profiles, 0.8 for spasticity and 0.93 for hypertonia. Evaluation of average change across different limb manipulation speeds, to mitigate acceleration and mechanical effects, resulted in MyoSense data correlations to simulated profiles of 0.99 for spasticity, spasticity with a catch, and dystonia. Overall these results show promise for future clinical evaluation of the MyoSense device.
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PMID:Development of a clinician worn device for the evaluation of abnormal muscle tone. 2557 Aug 91

Cerebral palsy is the most common cause of spasticity and physical disability in children and spasticity is one of the commonest problems in those with neurological disease. The management of spasticity in children with cerebral palsy requires a multidisciplinary effort and should be started as early as possible. There are a number of treatments available for the management of spasticity. This article reviews the variety of options available for the clinical management of spasticity.
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PMID:Management of spasticity in children with cerebral palsy. 2575 53

Multiple sclerosis (MS) is the most common autoimmune inflammatory demyelinating disease of the central nervous system, affecting over 2.3 million people worldwide. According to the National Institute of Neurological Disorders and Stroke, the age of disease onset is typically between 20 and 40 years, with a higher incidence in women. Individuals with MS experience a wide range of symptoms, including declining physical, emotional, and psychological symptoms (e.g., fatigue, imbalance, spasticity, chronic pain, cognitive impairment, bladder and bowel dysfunction, visual and speech impairments, depression, sensory disturbance, and mobility impairment). To date, both the cause of and cure for MS remain unknown. In recent years, more individuals with MS have been pursuing alternative methods of treatment to manage symptoms of the disease, including mind-body therapies such as yoga, meditation, breathing, and relaxation techniques. It has been suggested that the practice of yoga may be a safe and effective way of managing symptoms of MS. Therefore, the purpose of this paper is to summarize the most relevant literature on exercise and mind-body modalities to treat MS symptoms and, more specifically, the benefits and potential role of yoga as an alternative treatment of symptom management for individuals with MS. The article also discusses future directions for research.
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PMID:Therapeutic Yoga: Symptom Management for Multiple Sclerosis. 2627 Sep 55

The American Academy of Neurology published an evidence-based systematic review of randomized controlled trials using marijuana (Cannabis sativa) or cannabinoids in neurologic disorders. Several cannabinoids showed effectiveness or probable effectiveness for spasticity, central pain, and painful spasms in multiple sclerosis. The review justifies insurance coverage for dronabinol and nabilone for these indications. Many insurance companies already cover these medications for other indications. It is unlikely that the review will alter coverage for herbal marijuana. Currently, no payers cover the costs of herbal medical marijuana because it is illegal under federal law and in most states. Cannabinoid preparations currently available by prescription may have a role in other neurologic conditions, but quality scientific evidence is lacking at this time.
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PMID:Clinical perspectives on medical marijuana (cannabis) for neurologic disorders. 2633 32

Intrathecal baclofen (ITB) therapy is a common treatment used to reduce spasticity due to neurologic disorders and injuries. A variety of factors can increase the difficulty of ITB pump refill. Excess subcutaneous fat overlying the pump, spasticity, suboptimal positioning, pump rotation or inversion, and scar formation over the reservoir fill port can create challenges during pump refill. As a result, multiple unsuccessful attempts at accessing the reservoir fill port can be painful and increase the risk of infection, particularly when repeat skin puncture is required. Blind attempts to refill a pump in challenging cases may also result in subcutaneous injection or pocket fill, resulting in a potentially fatal baclofen withdrawal syndrome. We describe 3 successful ITB pump refills in technically challenging cases when using ultrasound guidance. This represents an innovative approach to using ultrasound guidance to facilitate ITB refill in adults with intractable spasticity. We present these new clinical data with a literature review of potential complications related to inaccurate pump refill procedures and discuss the utility of ultrasound guidance for preventing such adverse events.
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PMID:Ultrasound Guidance for Technically Challenging Intrathecal Baclofen Pump Refill: Three Cases and Procedure Description. 2700 3

Baclofen is a commonly used medication to treat spasticity in neurologic disorders. In the traumatic brain injury (TBI) population, the intrathecal administration of baclofen is often preferred over oral administration due to cognitive side effects. Here we report on a case of a psychotic episode following an increase in intrathecal baclofen in a young man with a history of a TBI. Although intrathecal baclofen is commonly used and is generally well tolerated, this case highlights an important potential effect of intrathecal baclofen that has rarely been reported in the literature.
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PMID:Psychosis Following an Increase in Intrathecal Baclofen. 2734 89

Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction. Neuromuscular conduction study, including a study of the phrenic nerve, confirmed the diagnosis of MND. The patient greatly improved giving respiratory assistance at night, using a noninvasive ventilator. This case indicates that MNDs should be considered as differential diagnoses for patients showing acute respiratory failure of unknown causes. This report will aid in the prompt diagnosis and treatment of MNDs.
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PMID:Motor Neuron Disease Presenting With Acute Respiratory Failure: A Case Study. 2850 69


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