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

We report a 73-year-old man with SPG4. From aged 53 he had diabetes mellitus and at 64 he developed spastic paraparesis and urinary disturbance. At 70 years, he began to walk with a stick and noted abnormal sensations in bilateral feet. There was no relevant family history. Moderate spasticity with mild muscle weakness, markedly brisk tendon reflex with pathological reflexes, and mildly abnormal sensation in bilateral lower extremities, and markedly spastic gait were found. MRI showed mild C4-C7 spondylosis and L4-5 disk protrusion but no abnormality of the corpus callosum. Nerve conduction and needle EMG studies revealed various abnormalities in distal (MCV, SCV) and proximal (F-wave) peripheral nerves, but no neurogenic changes in limb muscles. We found a missense spastin gene mutation (1726T>C) that causes Leu534Pro substitution. This spastin gene mutation was novel in Japanese, but has been reported in an Italian family. The present case's neuropathy might be related to diabetes mellitus, because SPG4 is generally not associated with neuropathy. However, recent studies suggest that SPG4 patients sometimes have subclinical neuropathy, and longer disease duration may contribute to peripheral neuropathy. Further study of clinical characteristics associated with the Leu534Pro mutation will be necessary.
 ...
PMID:[Late-onset sporadic case of SPG4 (1726T>C mutant) accompanied by polyneuropathy with diabetes mellitus]. 1763 11

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. This disorder, considered to be rare, was first described in the late seventies among French Canadians in the isolated Charlevoix-Saguenay region of Quebec. Nowadays, it is known that the disorder is not only limited to this region but occurs worldwide. Our objective was to identify cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in Dutch patients with recessive early-onset cerebellar ataxia by sequencing the complete SACS gene. In a Dutch cohort of 43 index patients with ataxia onset before age 25, we identified 16 index patients (total 23 patients) with mutations in the SACS gene. Nine of them had homozygous mutations, and seven of them had compound heterozygous mutations. Retrospectively, the phenotype of patients carrying mutations was remarkably uniform: cerebellar ataxia with onset before age 13 years, lower limb spasticity and sensorimotor axonal neuropathy, and cerebellar (vermis) atrophy on magnetic resonance imaging, consistent with the core ARSACS phenotype previously described. The high rate of mutations (37%) identified in this cohort of Dutch patients suggests that ARSACS is substantially more frequent than previously estimated. We predict that the availability of SACS mutation analysis as well as an increasing awareness of the characteristic ARSACS phenotype will lead to the diagnosis of many additional patients, possibly even at a younger age.
 ...
PMID:ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 1846 52

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year) and prevalence (average 5.2 per 100,000) are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio approximately 1.5:1). Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1-2 years. Paralysis is progressive and leads to death due to respiratory failure within 2-3 years for bulbar onset cases and 3-5 years for limb onset ALS cases. Most ALS cases are sporadic but 5-10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2-5% have mutations of the TARDBP (TDP-43) gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease) by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43 immunoreactive inclusions in degenerating lower motor neurones. Signs of upper motor neurone and lower motor neurone damage not explained by any other disease process are suggestive of ALS. The management of ALS is supportive, palliative, and multidisciplinary. Non-invasive ventilation prolongs survival and improves quality of life. Riluzole is the only drug that has been shown to extend survival.
 ...
PMID:Amyotrophic lateral sclerosis. 1919 1

Based on reports published so far, organophosphorus (OP) compounds do remarkable harm to human health. In 1995 there was an outbreak of organophosphorus-ester induced delayed neuropathy (OPIDN) due to tri-ortho-cresyl phosphate (TOCP) poisoning in northern suburbs of Xi'an in China. The 74 affected patients were treated and followed up after definite diagnosis. 13 years later, all the epidemiological data obtained from 61 survivors were evaluated, and 15 patients underwent clinical, laboratory, neuroimaging and electrophysiological examinations. In addition, a review of the literature about the possible mechanism of OPIDN was made. According to our investigation, of 61 survivors, 35 patients almost regained normal function of limbs and work outside; 23 patients walked with bilateral support and could perform housework; and 3 patients could not self-care. The patients undergoing examinations presented spasticity and minor lower leg muscle atrophy without sensory impairment. Laboratory investigations and brain and spinal cord magnetic resonance imaging examinations were normal. Neurophysiological investigations also showed normal electroencephalogram and visual, brainstem auditory and somatosensory evoked potentials. Motor evoked potential (MEP) obtained from the upper limbs had normal central motor conduction time (CMCT). However, the CMCT of MEP response recorded from the bilateral lower limbs was delayed, or showed even no MEP responses. Motor and sensory nerve conduction velocity and electromyography studies were normal except for two severely affected patients. TOCP showed long-term effects on the nervous system and influenced the quality of life. OP compounds should be strictly regulated to prevent similar occurrences.
 ...
PMID:Thirteen-year follow-up of patients with tri-ortho-cresyl phosphate poisoning in northern suburbs of Xi'an in China. 1957 41

Myofascial pain syndrome is a chronic pain syndrome that affects a focal or regional portion of the body, accompanied by manifestations of neuropathy. The main treatment goal is to desensitize supersensitive structures and restore motion and function, releasing muscle shortening and promoting healing. Therapeutic approach include MTP injections using botulinum toxin type A and stretch, treatment of psychological or behavioral abnormalities, physical therapy, electrical stimulation and massage. Spasticity is defined as a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes (muscle tone) with exaggerated tendon jerks resulting from hyperexcitability of the stretch reflex. This physiological events resulted in uncontrolled reflex activity (spasms) and increased muscle tone (rigidity). When used as part of an integrated antispasticity program, the dose of botulinum toxin type A may be adjusted to provide the precise degree of weakness needed to overcome spasticity, while preserving some strength for normal function. The benefits botulinum toxin type A can offer any particular patient depend on the location and degree of spasticity, but improvements in daily activities are usually obtained. In conclusion, botulinum toxin is currently an alternative to consider in the treatment of pain associated with myofascial pain syndrome and/or spasticity, based on a correct diagnosis and patient schedule program.
 ...
PMID:New advances in botulinum toxin therapy for pain. 1981 Sep 12

We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been reported in families presenting with Leber hereditary optic neuropathy (LHON) alone, LHON plus dystonia, or pediatric-onset dystonia. The proband had shown dysarthria, progressive generalized dystonia, and spasticity at 5 yr. Brain MRI demonstrated bilateral striatal necrosis. Additional investigation of family members revealed the presence of homoplasmic G14459A mutation in asymptomatic individuals. The clinical manifestation of the homoplasmic G14459A mtDNA mutation within the same family showed asymptomatic or pediatric-onset dystonia, without optic neuropathy. This study reemphasizes that the G14459A mutation is a candidate mutation for maternally inherited dystonia, regardless of optic neuropathy, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease.
 ...
PMID:Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report. 2005 69

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional evaluation was performed, using modified Barthel index, modified Ashworth scale, hand grip strength measured with a hydraulic dynamometer and two hereditary spastic paraplegia scales. Modified Barthel index, which evaluate several functional aspects, was more sensitive to disclose disease progression than the spastic paraplegia scales. Spasticity showed a bimodal distribution, with both grades 1 (minimum) and 4 (maximum). Hand grip strength showed a moderate inverse correlation with age. Combination of early onset spastic paraplegia and progressive polyneuropathy make SPOAN disability overwhelming.
 ...
PMID:Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). 2033 43

The use of botulinum toxin has expanded in the last five years to include traditional neurological use against dystonia and spasticity, as well as the emerging use for headache, pain, neuropathy, myofascial pain, joint arthritis, otolaryngology, gastroenterology and genitourinary disorders. This review will focus on these emerging uses of botulinum toxin as reported in recent literature. The exploratory use of botulinum toxin for cervical dystonia, blepharospasm and spasticity in small trials and case reports, has led to its detailed study in larger placebo-controlled clinical trials. Although the use of botulinum toxin for new indications may benefit a specific subset of patients with refractory pain and disability, the reader must realize that this is an emerging area, generally limited by a lack of large, placebo-controlled studies.
 ...
PMID:Botulinum toxin type A: Exploring new indications. 2096 99

Cancer rehabilitation is the subspecialty of rehabilitation medicine concerned with restoring and maintaining the highest possible level of function, independence, and quality of life to patients at all stages of their cancer diagnosis, including those undergoing potentially curative therapy and those receiving palliative care, as well as cancer survivors. Cancer rehabilitation physicians specialize in the evaluation and treatment of neuromuscular, musculoskeletal, and functional complications of cancer and cancer treatments such as acute and chronic pain, weakness, muscle spasm, myelopathy, radiculopathy, plexopathy, neuropathy, myopathy, deconditioning, contracture, spasticity, lymphedema, amputation, shoulder dysfunction, and gait disorders, among others. Late effects of radiation represents a particular challenge for cancer rehabilitation physicians as radiation fibrosis may affect multiple structures, including the spinal cord, nerve roots, plexus, local nerves, and muscles, as well as their supporting structures. A comprehensive clinical evaluation involving an in-depth working knowledge of neuromuscular and musculoskeletal anatomy and incorporating specialized physical examination maneuvers allows the physiatrist to clarify the specific etiology of pain and functional disorders. A safe and effective rehabilitation program will depend heavily on an accurate diagnosis of the cause of pain or dysfunction.
 ...
PMID:Cancer rehabilitation. 2160 Mar 68

CNS glia and neurons express connexins, the proteins that form gap junctions in vertebrates. We review the connexins expressed by oligodendrocytes and astrocytes, and discuss their proposed physiologic roles. Of the 21 members of the human connexin family, mutations in three are associated with significant central nervous system manifestations. For each, we review the phenotype and discuss possible mechanisms of disease. Mutations in GJB1, the gene for connexin 32 (Cx32) cause the second most common form of Charcot-Marie-Tooth disease (CMT1X). Though the only consistent phenotype in CMT1X patients is a peripheral demyelinating neuropathy, CNS signs and symptoms have been found in some patients. Recessive mutations in GJC2, the gene for Cx47, are one cause of Pelizaeus-Merzbacher-like disease (PMLD), which is characterized by nystagmus within the first 6 months of life, cerebellar ataxia by 4 years, and spasticity by 6 years of age. MRI imaging shows abnormal myelination. A different recessive GJC2 mutation causes a form of hereditary spastic paraparesis, which is a milder phenotype than PMLD. Dominant mutations in GJA1, the gene for Cx43, cause oculodentodigital dysplasia (ODDD), a pleitropic disorder characterized by oculo-facial abnormalities including micropthalmia, microcornia and hypoplastic nares, syndactyly of the fourth to fifth fingers and dental abnormalities. Neurologic manifestations, including spasticity and gait difficulties, are often but not universally seen. Recessive GJA1 mutations cause Hallermann-Streiff syndrome, a disorder showing substantial overlap with ODDD. This article is part of a Special Issue entitled: The Communicating junctions, composition, structure and functions.
 ...
PMID:Gap junctions in inherited human disorders of the central nervous system. 2187 35


<< Previous 1 2 3 4 5 6 7 8 9 Next >>