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93 Possible Causes for Neurologic Features Are Variable and Not Progressive, UDP-GlcNAc Decreased

  • Immunodeficiency Type 23

    Impaired function of PGM3 is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation [4] PGM3 is composed[en.wikipedia.org] -1-P), a precursor step for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc).[en.wikipedia.org] […] the crucial catalyst for the glycosylation pathway [6] [7] Protein PGM3 is required for the reversible conversion of GlcNAc-6-phosphate (GlnNAc-6-P) to GlnNAc-a-phosphate (GlcNac[en.wikipedia.org]

  • Parkinson's Disease

    Parkinson's disease (PD) is a progressive neurological disorder characterised by a large number of motor and non-motor features that can impact on function to a variable degree[ncbi.nlm.nih.gov] neurological disorder characterised by a large number of motor and non-motor features that can impact on function to a variable degree.[doi.org] Disorders Clinic, Baylor College of Medicine, 6550 Fannin, Suite 1801, Houston, Texas 77030-3498, USA; josephj{at}bcm.tmc.edu Abstract Objective: Parkinson’s disease (PD) is a progressive[doi.org]

    Missing: UDP-GlcNAc Decreased
  • Progressive Myoclonic Epilepsy Type 7

    PMEs feature a combination of myoclonus, seizures, variable degree of cognitive impairment and other/focal neurological deficits [ 3 ].[ncbi.nlm.nih.gov] Age at onset varies from infancy to adulthood among different diseases and the course is progressive [ 2 ].[ncbi.nlm.nih.gov] INTRODUCTION Progressive myoclonus epilepsies (PMEs) are a group of rare conditions accounting for 1% of all epilepsies [ 1, 2 ].[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Hepatosplenomegaly

    Systemic Features: Both the age of onset of neurological symptoms and the rate of progression are highly variable.[disorders.eyes.arizona.edu]

    Missing: UDP-GlcNAc Decreased
  • Myelocerebellar Disorder

    Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities[rarediseases.info.nih.gov] The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development[mendelian.co] Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015 ).For a general phenotypic[mendelian.co]

    Missing: UDP-GlcNAc Decreased
  • Multiple Sclerosis

    While there is considerable variability in clinical features and rate of progression, the histological changes are remarkably constant ( Prineas 1993 ).[doi.org] […] variability in its prevalence, MS occurs most widely in Northern European races (prevalence 30 to 150 per 100,000) ( Compston 1998 ) and is the commonest cause of chronic neurological[doi.org]

    Missing: UDP-GlcNAc Decreased
  • Autosomal Recessive Deafness 38

    Additional symptoms include progressive neurologic abnormalities and endocrine abnormalities.[personalizedmedicine.partners.org] Wolfram-like disease is a rare autosomal dominant condition characterized by low frequency sensorineural hearing loss and variable features of Wolfram syndrome.[personalizedmedicine.partners.org]

    Missing: UDP-GlcNAc Decreased
  • Alexander Disease

    Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features.[ncbi.nlm.nih.gov] We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the onset age of 28-year-old, progressing gradually to spastic paraparesis at age 30.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Oculo-Pharyngo-Distal Myopathy

    […] density ( Votruba et al., 1998 ).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia[mendelian.co] […] onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable[mendelian.co]

    Missing: UDP-GlcNAc Decreased
  • Mucopolysaccharidosis 2

    Mucopolysaccharidosis II affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression.[pediatrics.aappublications.org] Hunter syndrome is a chronic and progressive disorder with a variable age of onset and rate of progression.[actamedicaphilippina.com.ph] […] enlargement and valvular dysfunction, and neurologic involvement.[pediatrics.aappublications.org]

    Missing: UDP-GlcNAc Decreased

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