Neurophysiologic Abnormalities: Causes & Reasons

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Possible Causes for Neurophysiologic Abnormalities

Congenital Neuronal Ceroid Lipofuscinosis

New Mutation Found in Newborn with Congenital Neuronal Ceroid Lipofuscinosis, Case Study Reports A new mutation was identified in a baby girl with congenital neuronal ceroid lipofuscinosis (CLN10), a rare disease that belongs to the heterogeneous group of neuronal ceroid lipofuscinoses (NCL), also known as Batten[…] [battendiseasenews.com]

Neuronal Ceroid Lipofuscinosis Type 2

Cerliponase alfa for neuronal ceroid lipofuscinosis type 2 (CLN2 disease) Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation NIHR HSRIC. Cerliponase alfa for neuronal ceroid[…] [crd.york.ac.uk]

Neuronal Ceroid Lipofuscinosis Type 6

REFERENCIAS 1. Gao H, Rose-Mary N, Espinola J, Cotman S, Srinidhi L, Antonellis K, et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002;70(2):324-35. doi: 10.1086/338190. [ Links ] 2. Chin J, Behnam B, Davids M, Sharma P, Zein W[…] [scielo.org.co]

Duane Syndrome Type 3

Data to support abnormal development of cranial nerve VI (abducens nerve) in DS come from neuropathological, neuroradiological and neurophysiological evidence. [rarediseases.org]

These autopsies show abnormal innervation of the lateral rectus muscle (the muscle that moves the eye outward toward the ear) and an absence / failure to develop normally [rarediseases.org]

Dominant Intermediate Charcot-Marie-Tooth Disease Type E

"Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A". [en.wikipedia.org]

Charcot-Marie-Tooth Disease Type 2B2

"Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A". [en.wikipedia.org]

Charcot-Marie-Tooth Disease Type 2E

"Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A". [en.wikipedia.org]

Charcot-Marie-Tooth Disease Type 2D

"Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A". [en.wikipedia.org]

Nerve biopsies revealed a loss of large myelinated fibers but no myelin abnormalities. [emedicine.medscape.com]

While neurophysiologic findings are established early in life, clinical onset may be much later. [emedicine.medscape.com]

Autosomal Recessive Generalized Resistance to Thyroid Hormones

Keywords: Neurophysiologic abnormalities, resistance to thyroid hormone syndrome, thyroid hormone receptor beta How to cite this article: Philip R, Padikal MK, Alinausad A [jfmpc.com]

Keywords: Hyperthyroidism, neurophysiologic abnormalities, resistance to thyroid hormone syndrome, thyroid hormone receptor beta How to cite this article: Gutch M, Bhattacharya [cjhr.org]

Neurophysiological abnormalities such as ADHD in childhood or language development problems manifested by poor reading skills, dyslexia, and problems with articulation have [jfmpc.com]

Diphtheritic Neuropathy

Neurophysiology Neurophysiological abnormalities are often very mild or occasionally normal in early GBS, and do not correlate well with clinical disability.The earliest consequence [cidpusa.org]

Neurophysiological abnormalities are often very mild or occasionally normal in early GBS, and do not correlate well with clinical disability. 6 The earliest consequence of [healthdocbox.com]

Such abnormalities should be present in at least three nerves to meet diagnostic criteria. [healthdocbox.com]

Complex Migraine

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. [journals.sagepub.com]

Diffuse Cerebral Sclerosis of Schilder

Symptomatic patients showed severe neurophysiological abnormalities, whereas milder but unequivocal EP abnormalities were found in seven of the 14 patients with normal clinical [ncbi.nlm.nih.gov]

Restuccia D et al. (1997) Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement. [doi.org]

Seventeen out of 19 subjects underwent brain MRI which demonstrated various degrees of abnormality in one asymptomatic and five symptomatic subjects; SEPs and MEPs revealed [ncbi.nlm.nih.gov]

Hypoxic-Ischemic Brain Injury

Homepage Rare diseases Search Search for a rare disease Neonatal hypoxic and ischemic brain injury ORPHA:137577 Synonym(s): HIE Hypoxic and ischemic brain injury in the newborn Hypoxic-ischemic encephalopathy Perinatal asphyxia Perinatal hypoxia Prevalence: 1-9 / 100 000 Inheritance: Not applicable Age of onset:[…] [orpha.net]

Burning Feet Syndrome

Others have found that these are abnormal in a subpopulation of patients with burning feet syndrome possibly indicating involvement of small unmyelinated fibres. 18 On neurophysiological [jnnp.bmj.com]

[…] examination there were minor abnormalities on motor nerve conduction studies and EMG in two patients. [jnnp.bmj.com]

[…] only one family has been reported in which burning feet were the only clinical manifestation of a dominantly inherited sensory neuropathy. 6 In this family clinical and neurophysiological [jnnp.bmj.com]

Congenital Malabsorption of Folic Acid

Steinschneider M, Sherbany A, Pavlakis S, et al. (1990) Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities. Neurology 40: 1315. [els.net]

Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities. Neurology. 1990; 40 :1315. [ PubMed : 2381546 ] Su PC. [ncbi.nlm.nih.gov]

Bickerstaff Brainstem Encephalitis

[…] in the posterior fossa, white matter or thalami) and neurophysiological examinations (electroencephalogram and electromyography indicative of central nervous system and predominantly [orpha.net]

BBE was also considered to be clinically distinct from GBS as none of their cases had peripheral involvement including normal neurophysiology but instead there were abnormalities [jnnp.bmj.com]

[…] cerebrospinal fluid (CSF) analysis (revealing raised protein levels), detection of anti-GQ1b IgG antibodies (not present in all patients), MRI studies (revealing high-intensity abnormalities [orpha.net]

Triorthocresyl Phosphate Poisoning

There is also a need to study the effect of oximes on the neurophysiological abnormalities. [neurologyindia.com]

Neurophysiological abnormalities characteristic of nicotinic junctions (mainly neuromuscular junction) dysfunction include: (1) single, supramaximal electrical-stimulus-induced [neurologyindia.com]

Electrodiagnostic studies of neuromuscular transmission can be utilized to characterize and evaluate this disorder. [22], [24] In brief, the neurophysiological abnormalities [neurologyindia.com]

Charcot-Marie-Tooth Disease Type 4B3

The progression of the neuromuscular involvement (both clinical and neurophysiological) in this child, in the absence of any metabolic abnormality in blood tests, prompted [bmcmedgenomics.biomedcentral.com]

intellectual disability, no clinical and neurophysiological evidences of distal sensory impairment, and rapid neuromuscular deterioration. [bmcmedgenomics.biomedcentral.com]

[…] case of an early onset severe polyneuropathy with motor and axonal involvement, due to recessive variants in the MTMR5/SBF1 gene, with no evidence of brain and spine MRI abnormalities [bmcmedgenomics.biomedcentral.com]

Spina Bifida Occulta

No significant correlation was found between any particular neurophysiological abnormality and the presence of spina bifida. [ncbi.nlm.nih.gov]

Forty-three patients were found to have abnormal neurophysiological responses and the prevalence of spina bifida occulta was 50%, which compares with a prevalence of 17% in [ncbi.nlm.nih.gov]

[…] of their lower urinary tracts to detect any neurological abnormality which might relate to the disorder. [ncbi.nlm.nih.gov]

Crigler-Najjar Syndrome Type 1

We report neurophysiological abnormalities in two adolescents with type I Crigler-Najjar syndrome, an autosomal recessive disorder characterized by severe unconjugated hyperbilirubinemia [ncbi.nlm.nih.gov]

Guillain-Barré Syndrome

abnormalities. [gov.uk]

Equally the abnormalities of neurophysiologic studies have been higher in the second episode Table 1. [jneuro.com]

abnormalities could be more intense in recurrent episodes, similar the case that we have reported [18-20]. [jneuro.com]

Hereditary Proximal Myopathy with Early Respiratory Failure

It is differentiated from HMERF by the presence of combined upper and lower motor neuron signs, early atrophy of the hand muscles, and characteristic neurophysiologic abnormalities [ncbi.nlm.nih.gov]

Diabetic Polyneuropathy

Normal deviate (from percentiles) composite scores of NC included: representative of neurophysiological abnormalities; sensitive and specific for diagnosis and useful for [ncbi.nlm.nih.gov]

Diagnostic criteria for DPN were at least two abnormalities in clinical neurophysiological examinations and electrophysiological testing (H-reflex and nerve conduction velocity [ncbi.nlm.nih.gov]

Discriminant analysis of various concentric needle-EMG and macro-EMG parameters in detecting myopathic abnormality. Clinical Neurophysiology 113:1423-8 13. [ispub.com]

Primary Biliary Cirrhosis

The central component is associated with cognitive impairment and sleep disturbance and characterised by neurophysiological abnormalities of activation and facilitation, together [ncbi.nlm.nih.gov]

Glycogen Storage Disease Type 13

abnormalities. [clinicalgate.com]

In sporadic cases, diagnosis may prove elusive, especially when clinical examination results are normal and provocative testing does not demonstrate any biochemical or neurophysiologic [clinicalgate.com]

Hypomyelinating Leukodystrophy Type 5

Peripheral neuropathy was present in the 8 patients who underwent neurophysiological investigations. [ncbi.nlm.nih.gov]

Peripheral neuropathy was demonstrated by neurophysiologic studies in 9 children. The available neuroimaging studies were retrospectively reviewed. [ncbi.nlm.nih.gov]

Peripheral neuropathy was demonstrated by neurophysiological studies in 9/10. [thieme-connect.com]

Wisconsin Syndrome

Neurophysiological Studies of Abnormal Night Sleep and the Pickwickian Syndrome. Prog Brain Res. 1965; 18:140–59. Wetter DW, Young TB, Bidwell TR, Badr MS, Palta M. [pneumologia.eu]

Polyneuropathy

Persistent neuromuscular and neurophysiologic abnormalities in long-term survivors of prolonged critical illness. Crit Care Med 2003; 31: 1012-6. [medigraphic.com]

Persistent neuromuscular and neurophysiologic abnormalities in long-term survivors of prolonged critical illness. Crit Care Med 2003, 31: 1012–1016. [link.springer.com]

Persistent neuromuscular and neurophysiologic abnormalities in long-term survivors of prolonged critical illness. Crit Care Med. 2003;31(4):1012-6. 30. [revistas.fucsalud.edu.co]

Incontinentia Pigmenti Achromians

MRI and electroencephalography are justified to characterize structural and neurophysiological abnormalities upon clinical manifestations. [10] Treatment for hypomelanosis [ijpd.in]

[…] rule out cardiac abnormalities have to be done. [ijpd.in]

Chromosomal analyses of blood, fibroblasts or keratinocytes to defect mosaicism, radiographic examination to study musculoskeletal abnormalities and electrocardiography to [ijpd.in]

Autonomic Neuropathy

A neurophysiological abnormality involved an absence of sensory action potentials with relatively normal motor nerve conduction velocities. [ncbi.nlm.nih.gov]

abnormalities. [emedicine.medscape.com]

The autonomic nervous system modulates numerous body functions; therefore, autonomic dysfunction may manifest with numerous clinical phenotypes and various laboratory and neurophysiologic [emedicine.medscape.com]