AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesHealth Care
Multiple System AtrophyCerebellar AtaxiaOptic AtrophyOlivopontocerebellar AtrophiesShy-Drager SyndromeAtrophyOptic Atrophy, Autosomal DominantSupranuclear Palsy, ProgressiveAtaxiaalpha-SynucleinOptic Atrophies, HereditarySpinocerebellar DegenerationsAutonomic Nervous System DiseasesParkinson DiseasePutamenSynucleinsSpinocerebellar AtaxiasOptic NerveHypotension, OrthostaticGait AtaxiaInclusion BodiesLewy Body DiseaseMuscular AtrophyMidodrineThioninsParkinsonian DisordersFriedreich AtaxiaDiagnostic Techniques, NeurologicalWolfram SyndromeStriatonigral DegenerationCerebellumParkinson Disease, SecondaryPure Autonomic FailureMagnetic Resonance ImagingVocal Cord ParalysisOptic DiskBrainLewy BodiesGTP PhosphohydrolasesOptic Atrophy, Hereditary, LeberTonic PupilPedigreeOligodendrogliaBrain StemExtrapyramidal TractsRecurrent Laryngeal NerveGenes, RecessiveNeurodegenerative DiseasesSweat Gland DiseasesMyoclonic Cerebellar DyssynergiaAge of OnsetMuscular Atrophy, SpinalNerve Tissue ProteinsCerebellar DiseasesREM Sleep Behavior DisorderNerve DegenerationAtaxia TelangiectasiaNeurologic ExaminationSyndromeLevodopaOptic NeuritisBasal GangliaAutonomic Nervous SystemLaryngoscopyEphedrineElectromyographyHereditary Sensory and Motor NeuropathyGenes, DominantAntiparkinson AgentsDihydroxyphenylalanineStiff-Person SyndromeMutationOptic ChiasmPonsReflex, AbnormalSeverity of Illness IndexPerineumUrodynamicsNeuronsApraxiasCaudate NucleusSalicylamidesMachado-Joseph DiseaseRetinal Ganglion CellsSpinal Muscular Atrophies of ChildhoodSubstantia NigraDeath, SuddenDisease Models, Animal
DysarthriaHypoplasiaProgressive cerebellar ataxiaDemyelinationSclerosisDeafnessSyndromePatients with olivopontocerebellar atrophyDementiaDisordersTremorSpinocerebellar Ataxia TypeAutosomalBilateralMyoclonusNeuritisNerveAbnormalitiesCerebralSeizuresOlivopontocerebellar-atrophyHereditaryDegenerationSymptomsCongenitalMuscularCranialNeuropathyClinicalNeurodegenerativeOPCASpinal cordDisorderChildhoodRetinaAutonomicToxinsCerebellumDepositionNervous system
Dysarthria5
  • The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). (beds.ac.uk)
  • Testing for ATXN2 repeat expansions is recommended for individuals suspected to have SCA2 (presentation of progressive ataxia and dysarthria, nystagmus, and slow saccadic eye movement) in addition to a family history consistent with autosomal dominant inheritance. (preventiongenetics.com)
  • All individuals with SCA2 demonstrate cerebellar dysfunction characterized by progressive ataxia and dysarthria (Pulst et al. (preventiongenetics.com)
  • Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal signs, dysarthria, and dysphagia. (medscape.com)
  • Unilateral limb weakness , gait ataxia, limb ataxia, nystagmus and dysarthria are the examination findings. (symptoma.com)
Hypoplasia3
  • Clinically evocated by the association of cardiac malformations, cerebellar hypoplasia, and cranial dysmorphism. (mhmedical.com)
  • Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. (mendelian.co)
  • Type IV is a form a cerebellar hypoplasia. (lookformedical.com)
Progressive cerebellar ataxia2
  • FXTAS occurs in individuals who have an FMR1 premutation and is characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive impairment. (nih.gov)
  • We encountered a 37-year-old Japanese man with KIF1A-associated neurological disorder (KAND) who exhibited motor developmental delay, intellectual disability, and slowly progressive cerebellar ataxia, hypotonia, and optic neuropathy. (bvsalud.org)
Demyelination1
  • In the past, the efficacy of pulsed ELF-EMFs in alleviating the symptoms and the progression of multiple sclerosis has been supported through their action on neurotransmission and on the autoimmune mechanisms responsible for demyelination. (maxwellmagneticmeds.co.za)
Sclerosis10
  • Expansion of the poly-glutamine track in ATXN2 has been associated with several conditions including spinocerebellar ataxia 2 (SCA2), amyotrophic lateral sclerosis (ALS), and progressive encephalopathy with autonomic dysfunction (Pulst. (preventiongenetics.com)
  • The first named ataxia to emerge as a clinical entity was not an OPCA, but Friedreich ataxia , which Nicolaus Friedreich (1825-1882) managed to separate from numerous other conditions, the most prominent being multiple sclerosis (then called disseminated sclerosis) and neurosyphilis . (medscape.com)
  • [10] It has already described abnormalities in Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis (ALS), Alzheimer's disease, and multiple sclerosis among others. (aao.org)
  • The remaining 45 percent of patients had the following etiologies: vascular-related cognitive change, alcohol-related cognitive change, Huntington disease (HD), cognitive impairment resulting from multiple sclerosis (MS), prion diseases, dementia related to Down syndrome (predominantly AD), and unknown/unclassified. (medilib.ir)
  • Neuro-ophthalmic manifestations frequently are encountered in persons with multiple sclerosis (MS) and other central nervous system (CNS) inflammatory disorders, including neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD). (medscape.com)
  • Patients with visual disturbances in the setting of suspected or established multiple sclerosis (MS) or other CNS inflammatory disorder should be cautioned to avoid activities that present a safety risk to themselves or others. (medscape.com)
  • Multiple Sclerosis (MS) is a CNS disorder that is characterized by both inflammatory and neurodegenerative mechanisms of brain and spinal cord injury. (medscape.com)
  • [ 1 , 2 ] Approximately 15% of patients with MS experience a primary progressive course from onset, either without preceding relapses (known as primary progressive multiple sclerosis [PPMS]) or with superimposed neurologic events, known as progressive relapsing MS. (medscape.com)
  • Cognitive impairment in newly diagnosed multiple sclerosis patients: a 4-year follow-up study. (gov.gy)
  • The elusive biomarker for personalized medicine in multiple sclerosis: the search continues. (gov.gy)
Deafness1
  • Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a nervous system disorder with signs and symptoms that usually begin in mid-adulthood and gradually get worse. (medlineplus.gov)
Syndrome6
  • MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. (wikipedia.org)
  • Due to the multiple symptoms presented by the individual, the severity of the syndrome is very difficult to evaluate. (wikipedia.org)
  • FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). (nih.gov)
  • Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. (nih.gov)
  • Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. (liuzlab.org)
  • Ear drops?AutoPap: Computer-assisted cytology interpretation system?AV: Aortic valve?AV: Atrioventricular?A-V: Arteriovenous?AVERT: Atorvastatin Versus Revascularization treatment?AVID: ?AVM: Arteriovenous Malformation?AVNRT: AV nodal reentry tachycardia?AVP: Arginine vasopressin?AVR: Aortic valve replacement?AVR: Augmented V lead, right arm (ECG)?AVRT: ?AVS: Arteriovenous shunt?AWS: Alcohol withdrawal syndrome?AXR: Abdominal X ray?AZF: Azoospermia factor genes?AZT: Azidothymidine (zidovudine)?B & O: Belladonna and opium?B Bx. (kuwaitpharmacy.com)
Patients with olivopontocerebellar atrophy1
  • MRI is the imaging study of choice in patients with olivopontocerebellar atrophy (OPCA) because CT scanning does not provide adequate resolution of the pons and cerebellum. (medscape.com)
Dementia2
  • While this definition recognizes multiple different cognitive domains, a decline in memory is one of the earliest and most prominent features of Alzheimer disease (AD) dementia and most other forms of dementia. (medilib.ir)
  • Patients may develop a wide spectrum of neurologic abnormalities, from prenatal-onset white matter disease to juvenile- or adult-onset ataxia and dementia, sometimes with ovarian insufficiency. (medlink.com)
Disorders9
  • PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. (nih.gov)
  • Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. (beds.ac.uk)
  • MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). (beds.ac.uk)
  • Available at https://www.ninds.nih.gov/health-information/disorders/olivopontocerebellar-atrophy . (medscape.com)
  • The same favourable effect in clinical practice comes from the accumulated knowledge of the complex clinical picture of various causes of RPD, associated specific neurological features (pyramidal signs, ataxia, myoclonus) and systematic features (weight loss, hyponatraemia, hepatic disorders) and their mode of progression. (touchneurology.com)
  • Various conditions involving the central nervous system (CNS) can emerge as RPD, including Creutzfeld-Jakob disease (CJD) and other spongiform encephalopathies, vascular disorders, autoimmune and paraneoplastic encephalopathies, subacute infections, metabolic and toxic disorders and systemic diseases (see Table 1 ). (touchneurology.com)
  • The discipline encompasses diseases and disorders of the spinal cord, brain, peripheral nervous system, autonomic nervous system, muscles and blood vessels that affect individuals in these age groups. (topneurodocs.com)
  • Mitochondrial disorders describe a broad range of disorders that have multiple genetic causes and variable symptoms and signs. (medlink.com)
  • Optic neuritis is an inflammatory injury of the optic nerve that causes vision loss, which is common in MS and other CNS inflammatory disorders. (medscape.com)
Tremor1
  • Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. (medscape.com)
Spinocerebellar Ataxia Type2
Autosomal3
  • SCA2 is the second most common subtype of autosomal dominant cerebellar ataxias worldwide. (preventiongenetics.com)
  • The classification scheme for autosomal dominant OPCA overlaps with that of autosomal dominant spinocerebellar atrophies (SCAs) and autosomal dominant cerebellar atrophies (ADCAs). (medscape.com)
  • Mutations affecting the eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, the autosomal recessive childhood ataxia with central nervous system hypomyelination (CACH), or vanishing white matter disease (VWM). (medlink.com)
Bilateral2
Myoclonus1
  • The primary features displayed on a person with MERRF include myoclonus, seizures, cerebellar ataxia, myopathy, and ragged red fibers (RRF) on muscle biopsy, leading to the disease's name. (wikipedia.org)
Neuritis1
Nerve11
  • Although its specific role in the nervous system is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to move (migrate) where needed and connect with each other, and neuron survival. (medlineplus.gov)
  • Other variable features include retinitis pigmentosa, optic nerve atrophy, cortical visual impairment, infantile spasms, and seizures (Paciorkowski et al. (preventiongenetics.com)
  • Optic atrophy is the result of the fibres of optic nerve failing to transmit the visual information to the brain due to the damaged optic nerve which may result in problems with vision. (targetwoman.com)
  • Optic atrophy refers to the loss or damage of the fibres of the optic nerve. (targetwoman.com)
  • Optic nerve is responsible for carrying images from the eye to the brain. (targetwoman.com)
  • hence this condition is also referred to as optic nerve head pallor . (targetwoman.com)
  • Compression of the optic nerve. (targetwoman.com)
  • Interruption in blood circulation to the optic nerve in the form of decreased blood supply (ischemia) or oxygen supply (hypoxia). (targetwoman.com)
  • This will avoid the further damage of the optic nerve and preserve the existing vision. (targetwoman.com)
  • More recently, a subset of OCT, the OCT Angiography is a modality that images integrity of the vasculature in the retina and optic nerve mainly assessing the blood perfusion. (aao.org)
  • Disruptions in the third cranial nerve, the red nucleus, the corticospinal tracts, the brachium conjunctivum, and the superior cerebellar peduncle decussation are normally associated with BS manifestations [1]. (symptoma.com)
Abnormalities1
  • Childhood ataxia with CNS hypomyelination (or vanishing white matter disease) is a relatively common leukodystrophy in which most of the patients have a pathognomonic pattern of MRI and diffusion tensor imaging abnormalities. (medlink.com)
Cerebral4
  • Serial neuroradiological studies revealed atrophy of the cerebellum at an early age, and cerebral hemisphere atrophy progressed slowly over a 22-year observation period. (bvsalud.org)
  • Magnetic resonance imaging (MRI) scans may demonstrate atrophy of the spinal cords and occasionally of the cerebral cortex. (medscape.com)
  • Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions. (liuzlab.org)
  • The mechanism for coma or impaired consciousness involves dysfunction of both cerebral hemispheres or of the reticular activating system (also known as the ascending arousal system). (merckmanuals.com)
Seizures1
Olivopontocerebellar-atrophy4
  • Care of olivopontocerebellar atrophy (OPCA) is directed to the treatment of symptoms. (medscape.com)
  • At times, olivopontocerebellar atrophy (OPCA) patients may require enteral feeding to decrease the risk of aspiration. (medscape.com)
  • As dysphagia progresses with olivopontocerebellar atrophy (OPCA), a pureed diet or enteral feeding may be required. (medscape.com)
  • [ 6 ] They coined the term olivopontocerebellar atrophy . (medscape.com)
Hereditary1
  • Throughout the years, both Dejerine-Thomas ataxia and Menzel ataxia have been used as terms for certain cases of either hereditary or sporadic OPCA. (medscape.com)
Degeneration1
  • It is characterized by progressive degeneration of the nervous system. (targetwoman.com)
Symptoms6
  • Maintenance of the neurons that make up the nervous system is disrupted, leading to the signs and symptoms of ADCADN. (medlineplus.gov)
  • If you face any of these symptoms seek medical attention immediately as any progression of optic atrophy leads to vision loss. (targetwoman.com)
  • Though the occurrence of these symptoms does not necessarily mean optic atrophy, it is always better to rule out this severe eye condition. (targetwoman.com)
  • After an attempt to replace thyroid function with thyroid hormone in pills (Eutirox), the patient had reported multiple symptoms which might be suggestive for adverse side effects of Eutirox (double vision, tachycardia, disturbance of sleep, outbursts of anger). (doctorsmedicalopinion.com)
  • Neurologic symptoms vary greatly because the nervous system controls many different body functions. (merckmanuals.com)
  • symptoms may reflect deficits in any part of the nervous system. (merckmanuals.com)
Congenital1
  • This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al. (beds.ac.uk)
Muscular3
Cranial1
  • Assess neurological function, particularly the cranial nerves and the cerebellar function. (mhmedical.com)
Neuropathy1
  • About 90% of persons in the ANS have ataxia and neuropathy as core features. (beds.ac.uk)
Clinical4
  • Multiple correspondence analyses followed by hierarchical ascendant cluster process were used to explore relationships between clinical spectrum, age at onset and localisation of mutations. (bmj.com)
  • 250 Clinical Cases covers a wide variety of conditions, providing in-depth insights into the most relevant topics, classified by system. (elsevierhealth.com)
  • The study of neurodegenerative ataxias draws from the interplay between clinical observations, neuropathological analysis, and biochemistry and molecular genetics. (medscape.com)
  • These are your clinical examination findings: left-sided limb ataxia. (symptoma.com)
Neurodegenerative1
  • Several such studies have indicated that such medications may produce modest improvement in ataxia caused by various neurodegenerative conditions, including OPCA. (medscape.com)
OPCA2
Spinal cord2
  • Neurology is the medical science related to nervous system, which is made up of brain, spinal cord, nerves and muscles. (ansaclinic.com)
  • Longitudinal cavities in the spinal cord , most often in the cervical region, which may extend for multiple spinal levels. (lookformedical.com)
Disorder2
Childhood2
  • Patients with childhood ataxia with CNS hypomyelination have a usual susceptibility to mild head trauma, fever, and other stresses. (medlink.com)
  • Childhood ataxia with CNS hypomyelination can present at any age. (medlink.com)
Retina1
  • The retina is an extension of the central nervous system, and it is the only portion that can be viewed non-invasively. (aao.org)
Autonomic1
Toxins1
Cerebellum1
  • Related to the fact that serotonin 5-hydroxytryptophan (5HT) 1-A receptor agonists modulate the serotonergic motor output from the cerebellum, a few small studies have focused on 5HT 1-A receptor agonists, such as tandospirone or buspirone, as a treatment for ataxia. (medscape.com)
Deposition1
  • The pathology of AD is complex but characterized by loss of neurons, brain atrophy, extra-cellular deposition of amyloid Beta (Aβ) plaques, and intracellular accumulation of neurofibrillary tangles composed of phosphorylated tau protein. (aao.org)
Nervous system5
  • DNA methyltransferase 1 is active in the adult nervous system. (medlineplus.gov)
  • Few of the diseases originating in the eye and the nervous system that lead to optic Atrophy are given below. (targetwoman.com)
  • [9] OCT has therefore emerged as a non-invasive and relatively inexpensive technique for capturing loss of central nervous system axons and neurons. (aao.org)
  • Molecules like ISRIB (integrated stress response inhibitor) correct the eIF2B deficiency in most mutants and are likely to be tried as therapy for central nervous system hypomyelination/vanishing white matter disease. (medlink.com)
  • While doing the examination, clinicians should relate findings to anatomic structures in the nervous system. (merckmanuals.com)