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Recessive inheritanceInheritanceStrabismusDominantSensorineural hearAtaxiaDiagnosisGeneDiseaseMucopolysaccharidosis typeHeterogeneousGeneticNeurologicDisorderSymptomsAbnormalitiesClinicallyHereditarySensoryDeficiencyManifestationsShort-rib syndOccurFeaturesAbnormalTypeHemorrhageFindingsPatientsAbsenceChildEvidenceWoman

Recessive inheritance3

• Some individuals affected with Beck-Fahrner syndrome have biallelic variants, which may indicate a possibility for autosomal recessive inheritance as well. (wikipedia.org)
• No sexual predilection exists, as the syndrome has an autosomal recessive inheritance pattern. (medscape.com)
• Pedigrees consistent with autosomal recessive inheritance have also been reported but the responsible genes are unknown. (arizona.edu)

Inheritance2

• However, their family histories and DNA methylation profiling have been consistent with an autosomal dominant mode of inheritance. (wikipedia.org)
• In addition, three types with autosomal dominant inheritance have been defined. (arizona.edu)

Strabismus1

• This is a congenital and non-progressive strabismus syndrome. (arizona.edu)

Dominant9

• It can occur de novo or can be inherited in an autosomal dominant manner. (wikipedia.org)
• It can occur de novo (genetic mutations occurring for the first time) or it can be inherited in an autosomal dominant manner with variable expressivity and hypomorphic alleles. (wikipedia.org)
• Now that genetic testing is available, it can be performed to confirm the diagnosis of autosomal dominant OPCAs. (medscape.com)
• therefore, family members must be evaluated early if a diagnosis of autosomal dominant OPCA is made. (medscape.com)
• In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. (beds.ac.uk)
• PAX2-related disorder is an autosomal dominant disorder associated with renal and eye abnormalities. (beds.ac.uk)
• Papillorenal syndrome (PAPRS) is an autosomal dominant disorder characterized by both ocular and renal anomalies. (beds.ac.uk)
• Duane syndrome 1 described here follows an autosomal dominant pattern. (arizona.edu)
• Individuals having Duane Retraction Syndrome 2 (DURS2) ( 604356 ) are often found in autosomal dominant pedigrees also. (arizona.edu)

Sensorineural hear1

• Duane Retraction Syndrome (DURS3) ( 617041 ) patients with mutations in MAFB may have sensorineural hearing loss. (arizona.edu)

Ataxia2

• Neuromascular abnormality presenting with ataxia(ataxia-telangiectasia) , flaccid paralysis after live poliovirus immunization (combined or antibody deficiencies) ,pernicious anaemia (CVID), cognitive impairment, nystagmus and cerebellar, spinal and peripheral neuropathies(Chediac-Higashi syndrome), seizures, ataxia and occulomotor and reflex abnormalities(Griscelli syndrome) are examples of neurologic features seen in different immunodeficiency syndromes. (ac.ir)
• Like X-linked Pelizaeus-Merzbacher disease (PMD, MIM: 312080), which is caused by mutations in the gene encoding proteolipid protein 1 ( PLP1 , MIM: 300401), one of the major proteins in the central nervous system (CNS) myelin, PMLD is characterized by impaired motor development resulting in nystagmus, dysarthria, progressive spasticity and ataxia. (prolekarniky.cz)

Diagnosis4

• While there is no consensus on criteria for diagnosis, the presence of pathologic or likely-pathologic TET3 variants in setting of typical clinical findings helps in establishing the diagnosis. (wikipedia.org)
• Postmortem analysis showed multiple white matter abnormalities suggestive of a leukodystrophy syndrome, and histopathologic testing revealed abnormal accumulation of polyglucosan bodies in samples from the patient's central nervous system supporting the diagnosis of APBD. (bvsalud.org)
• The diagnosis can be confirmed with a combination of genetic testing and pathologic analysis of affected brain tissue. (bvsalud.org)
• The concept of MSA as a unitary diagnosis encompassing several clinical syndromes has a long history. (medscape.com)

Gene3

• Beck-Fahrner syndrome, also known as BEFAHRS and TET3 deficiency, is a rare genetic disorder caused by mutations of the TET3 gene. (wikipedia.org)
• Beck-Fahrner syndrome is caused by homozygous, heterozygus or compound heterozygous mutations in the TET3 gene on chromosome 2 (2p13.1). (wikipedia.org)
• Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)

Disease4

• Rare autosomal recessive disease characterized by multiple organ dysfunction. (uchicago.edu)
• INTRODUCTION: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy caused by abnormal intracellular accumulation of glycogen byproducts. (bvsalud.org)
• The autosomal recessive mutation hCx47M283T causes Pelizaeus-Merzbacher-like disease 1 (PMLD1), a progressive leukodystrophy characterized by hypomyelination, retarded motor development, nystagmus, and spasticity. (prolekarniky.cz)
• AIDS-like syndrome: AIDS-like disease (illness) (syndrome) ARC AIDS-related complex Pre-AIDS AIDS-related conditions Prodromal-AIDS 3. (cdc.gov)

Mucopolysaccharidosis type1

• Child with Hurler syndrome (mucopolysaccharidosis type IH). (medscape.com)

Heterogeneous2

• Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of autosomal recessive disorders characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. (medscape.com)
• Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. (arizona.edu)

Genetic2

• Differential for Beck-Fahrner syndrome includes Bainbridge-Ropers syndrome, Fragile X syndrome, Heyn-Sproule-Jackson syndrome, Kabuki syndrome, Luscan-Lumish syndrome, Malan syndrome, Sotos syndrome, Tatton-Brown-Rahman syndrome, and other genetic disorders with similar clinical findings. (wikipedia.org)
• Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. (nih.gov)

Neurologic1

• Mitochondrial complex IV deficiency nuclear type 12 (MC4DN12) is an autosomal recessive metabolic disorder characterized by the onset of neurologic dysfunction in early infancy. (nih.gov)

Disorder3

• CONCLUSION: APBD is a rare disorder that can affect the nervous system. (bvsalud.org)
• Introduction: Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder associated with muscle rigidity and spasms. (bvsalud.org)
• At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. (arizona.edu)

Symptoms1

• First symptoms, nystagmus and poor control of head and trunk movements, occur during early infancy. (prolekarniky.cz)

Abnormalities1

• Renal abnormalities can be clinically silent in rare individuals. (beds.ac.uk)

Clinically1

• Clinically, pathophysiologically, and radiographically, hypertensive encephalopathy shares many features of posterior reversible encephalopathy syndrome (PRES) and may be thought of as a subtype of this syndrome. (medlink.com)

Hereditary1

• Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome . (arizona.edu)

Sensory1

• LCA manifests itself in the first 6 months of life with significant visual loss and sensory, pendular nystagmus. (aao.org)

Deficiency1

• 1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)

Manifestations2

• Neurological manifestations of primary immunodeficiencies are common with diverse pathologic mechanisms. (ac.ir)
• The aim of this study is to review the neurological manifestations of different primary immunodeficiency syndromes. (ac.ir)

Short-rib synd1

• Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). (medscape.com)

Occur1

• 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). (nih.gov)

Features4

• Beck-Fahrner syndrome is also known as "BEFAHRS", which is a mnemonic for its most common features: behavioral differences, epilepsy, facial features, autistic features, hypotonia, retardation of psychomotor development, and size differences. (wikipedia.org)
• The Shy-Drager syndrome with features of parkinsonism and autonomic failure with OH was described in 1960. (medscape.com)
• Features of Duane syndrome are also part of the Duane-Radial Ray Syndrome ( 607323 ). (arizona.edu)
• Thus, hypertensive encephalopathy shares many clinical and radiographic features with posterior reversible encephalopathy syndrome (PRES). (medlink.com)

Abnormal1

• Platelets in patients with the syndrome have abnormal aggregation with collagen, thrombin, epinephrine, and adenosine diphosphate (ADP). (medscape.com)

Type1

• Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)

Hemorrhage1

• Their article sparked controversy in the literature, prompting others to point out that such patients were at risk of hemorrhage and ischemia, and, thus, the syndrome was not necessarily "reversible. (medlink.com)

Findings1

• These radiographic findings in hypertensive encephalopathy, posterior reversible encephalopathy syndrome, and reversible posterior leukoencephalopathy syndrome supported the concept that the syndrome results from fluid and protein extravasation across the blood-brain barrier, owing to failure of cerebral autoregulation. (medlink.com)

Patients8

• Patients with the syndrome have Ty-pos OCA. (medscape.com)
• However, patients with the syndrome have a wide variety of phenotypic appearance. (medscape.com)
• Electron microscopy (EM) shows that platelets in patients with the syndrome have a smaller quantity of dense bodies (DB). (medscape.com)
• and granulomatous colitis in 15% of patients with the syndrome. (medscape.com)
• Clinical studies have reported that most patients with the syndrome are legally blind. (medscape.com)
• Best-corrected visual acuity in patients with the syndrome ranges from 20/60 to 20/400. (medscape.com)
• Presenile cataracts may further reduce vision in patients with the syndrome. (medscape.com)
• Pulmonary fibrosis is the most common cause of morbidity and mortality in patients with the syndrome. (medscape.com)

Absence1

• In the absence of other anomalies, it is called isolated Duane syndrome. (arizona.edu)

Child1

• Child with Robinow syndrome. (medscape.com)

Evidence1

• Radiographically, hypertensive encephalopathy most commonly presents with evidence of posterior-predominant T2-hyperintense lesions without pathologic contrast enhancement. (medlink.com)

Woman1

• In this report, we present a rare case of a 79-year-old woman who presented with bilateral lower extremity weakness who was ultimately diagnosed with stiff-limb syndrome, a rare variant of SPS. (bvsalud.org)