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)

A 66-year-old man with gait disturbance was diagnosed with normal pressure hydrocephalus (NPH) and treated with ventriculoperitoneal shunting using a programmable valve. The valve ultimately set at a pressure of 40 mm H(2)O after higher settings no longer relieved symptoms. However, this pressure setting was excessively low and was associated with occurrence of bilateral subdural hematomas. Paradoxically, this event was associated with stable improvement of gait. Our patient's gait disturbance was unassociated with muscle weakness, spasticity, cerebellar ataxia, or Romberg's sign, and, therefore, was consistent with a frontal gait disorder. Cerebral cortical blood flow as measured after shunting by single photon emission computed tomography (SPECT) was slightly increased from the value before shunting, possibly because of intracranial hypotension related to the valve setting. Lasting improvement of gait in our case may be a result of increased blood flow in the supplementary motor area (SMA).
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PMID:Occurrence of subdural hematoma and resolution of gait disturbance in a patient treated with shunting for normal pressure hydrocephalus. 1214 96

HTLV-1-associated myelopathy (HAM), also known as tropical spastic paraparesis (TSP), is a chronic progressive demyelinating disease that affects the spinal cord and white matter of the central nervous system. The lifetime incidence of HAM in HTLV-1 carriers is estimated to be less than 5%. Typical time of onset is in the fourth decade of life, with a female-to-male rate of 2:1. Gait disturbance and weakness and stiffness of the lower limbs are common presenting signs and symptoms of HAM. Lower extremities are affected to a much greater degree than upper extremities. Spasticity may be moderate to severe, and lower back pain is common. As the disease progresses, bladder and bowel dysfunction can occur. Sensory involvement is generally mild and can result in a variable degree of sensory loss and dysesthesia. Results of magnetic resonance imaging may be normal, or the scans show atrophy of the spinal cord and nonspecific lesions in the brain. Immunologic evidence suggests that an immune mechanism may play a role in the development of HAM. There is no effective treatment for the myelopathy. Corticosteroids, and INF-gamma may produce transient responses. Danazol, an anabolic steroid, does not improve gait and bladder function. The value of zidovudine (anti-retroviral agent) in the treatment has not been defined yet.
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PMID:[Human T-cell lymphotropic virus type 1(HTLV-1)-associated myelopathy]. 1217 Mar 34

A nine-year-old, male, mongrel dog was unsteady after falling down a set of stairs. The dog exhibited a mildly abnormal gait 2 days after injury, and was not able to stand, with spasticity of the right limbs, 4 days after injury. MR imaging revealed a clearly demarcated mass on the top of the left lateral ventricle that showed mild hyperintensity on T1-weighted images and hyperintensity on T2-weighted images. The authors diagnosed the dog as having a traumatic intracerebral hematoma. This type of case, in which the clinical signs deteriorated due to edema associated with hematoma, is extremely rare.
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PMID:Traumatic intracerebral hematoma in a dog: MR images and clinical findings. 1614 76

Multiple sclerosis (MS) is a chronic, unpredictable, progressive, disabling disease. It is generally diagnosed in young adult females between the ages of 20 and 40 years. Symptoms of MS may include profound fatigue, depression, gait disorder, spasticity, blurred vision, and bladder and bowel problems. It is an unpredictable disease and has the potential to create a stressful family life. Because MS is frequently diagnosed in early adulthood, it may affect developmental experiences such as raising a family and building and sustaining a career. Satisfaction with relationships can also be altered. MS has a significant social, psychological, and physical impact on the affected individual as well as his or her family. Partners of people with MS often become caregivers, adding to the demands and challenges of family life. As the individual's disease progresses, the capacity for self-care may decrease, and the individual may require daily assistance from family members. However, the daily assistance that family members provide to a disabled spouse, parent, partner, or child can take a physical and economic toll on the caregiver, causing caregiver burden. Caregiver burden is a multidimensional response to physical, psychological, emotional, social, and financial stressors associated with the caregiving experience. Caregivers who experience burden are more likely to have a higher risk of depression and a lower quality of life. Early recognition of caregiver burden is important in determining appropriate interventions.
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PMID:Assessment of caregiver burden in families of persons with multiple sclerosis. 1833 Apr 7

Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining the causative mutation from a substantial number of bystander variations that do not play any role in the disease etiology. Current strategies to analyze variations have mainly relied on genetic and functional arguments such as mode of inheritance, conservation, and loss of function prediction. Here, we demonstrate that disease-network analysis provides an additional layer of information to stratify variations even in the presence of incomplete sequencing coverage, a known limitation of exome sequencing. We studied a case of Hereditary Spastic Paraparesis (HSP) in a single inbred Palestinian family. HSP is a group of neuropathological disorders that are characterized by abnormal gait and spasticity of the lower limbs. Forty-five loci have been associated with HSP and lesions in 20 genes have been documented to induce the disorder. We used whole exome sequencing and homozygosity mapping to create a list of possible candidates. After exhausting the genetic and functional arguments, we stratified the remaining candidates according to their similarity to the previously known disease genes. Our analysis implicated the causative mutation in the motor domain of KIF1A, a gene that has not yet associated with HSP, which functions in anterograde axonal transportation. Our strategy can be useful for a large class of disorders that are characterized by locus heterogeneity, particularly when studying disorders in single families.
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PMID:Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. 2155 15

Multiple sclerosis (MS) is a chronic disease that causes disability due to inflammation and demyelination in the central nervous system. Pain is a common symptom in patients with MS but is often inadequately treated, leading to decreased functioning and a low quality of life. Pain associated with MS includes central neuropathic pain due to lesions of the somatosensory system, and nociceptive pain due to spasticity, muscle tightness or contracture, abnormal gait and postures caused by MS, or treatment-related pain. Patient education, physical therapy, and pharmacotherapy can all be helpful in treating the painful symptoms of MS. Tricyclic antidepressants, anticonvulsants, and opioids are first-line options for central neuropathic pain, and spasmolytics, muscle relaxants, benzodiazepines, and anticonvulsants are helpful for nociceptive pain. Pain should be regularly assessed and appropriately treated to improve functioning and quality of life for patients with MS.
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PMID:Identifying and treating pain caused by MS. 2290 56

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral neuropathy. Here we report the case of HSP with novel SPAST gene mutation that misdiagnosed with subacute combined degeneration initially. A 58-year-old man with gait disturbance came to our hospital. He was unable to regulate his steps by himself. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he started feeling tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problem. We diagnosed him with subacute combined degeneration on the evidence of history of gastrectomy, lower normal limit of vitamin B12 (363 pg/ml), apparent absence of vibration sensations and paresthesia in the feet. He was intramuscularly administered cyanocobalamin regularly. However, there was no improvement in his condition. We reconsidered his symptoms and signs, decided to examine the SPAST gene, which is the most common mutation in HSP. The SPAST gene, c.870+1delG, heterozygote, splicing mutation is detected from the gene sample. There was no previous information of this polymorphism or mutation at this locus. We examined his two children, and the same mutation was founded in his son. We report a patient of novel SPAST gene mutation with AD-HSP which is misdiagnosed with SCD.
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PMID:Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration. 2383 62

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6) gene. Affected individuals usually present between the ages of 6 months and 2 years with rapid cognitive and motor regression and axial hypotonia. Gait disturbance, limb spasticity, cerebellar signs, and optic atrophy are other common features associated with INAD. Although magnetic resonance imaging (MRI) can sometimes contribute towards the diagnosis, the confirmation of INAD is by Pla2G6 gene analysis. In this case report, we describe the first individual (female) with INAD due to a combination of uniparental heterodisomy and isodisomy; we discuss the possible underlying mechanism and highlight the importance of parental carrier testing in accurately predicting the recurrence risk in these families. We also confirm the recent report of hypertrophy of the clava (also known as the 'gracile tubercle') as a useful MRI sign in INAD.
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PMID:Infantile neuroaxonal dystrophy caused by uniparental disomy. 2462 89

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. To date, 72 spastic gait disease-loci and 55 spastic paraplegia genes (SPGs) have been identified. All modes of inheritance (autosomal dominant, autosomal recessive, and X-linked) have been described. Recently, a late onset spastic gait disorder with maternal trait of inheritance has been reported, as well as mutations in genes not yet classified as spastic gait disease. Several cellular processes are involved in its pathogenesis, such as membrane and axonal transport, endoplasmic reticulum membrane modeling and shaping, mitochondrial function, DNA repair, autophagy, and abnormalities in lipid metabolism and myelination processes. Moreover, recent evidences have been found about the impairment of endosome membrane trafficking in vesicle formation and about the involvement of oxidative stress and mtDNA polymorphisms in the onset of the disease. Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches.
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PMID:Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. 2495 37

In the last few years, there has been an explosion of new drugs acting on the clinical course of multiple sclerosis (MS) but less attention has been paid to better knowledge of the symptoms of this disease and their pathogenesis and treatment, which is essential to improve patients' quality of life. Because many patients have numerous concurrent symptoms during their clinical course, their management is complex and consequently it is important to know which symptoms are a direct result of the degenerative lesions of MS. The present article describes all the therapeutic options available for spasticity and its associated pain, paroxystic symptoms, fatigue, genitourinary disorders and sexual dysfunction, tremor, ataxia, gait disorder and cognitive impairment, with special emphasis on novel treatments. The article also defines exacerbations, how to recognize them and the available treatments, mainly oral administration of high-dose methylprednisolone and plasmapheresis.
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PMID:[Treatment of multiple sclerosis symptoms and exacerbations]. 2573 49


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