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Optic AtrophyOptic Atrophy, Autosomal DominantDeafnessOptic Atrophies, HereditaryAtrophyOptic NerveWolfram SyndromeOptic DiskGTP PhosphohydrolasesOptic Atrophy, Hereditary, LeberMuscular AtrophyOptic NeuritisHearing Loss, SensorineuralPedigreeHereditary Sensory and Motor NeuropathyOptic ChiasmRetinal Ganglion CellsGenes, RecessivePapilledemaOptic Nerve InjuriesSyndromeDNA, MitochondrialMuscular Atrophy, SpinalVision DisordersBlindnessVisual AcuityMutationRetinaOnchocerciasis, OcularEye DiseasesConsanguinityMitochondrial DiseasesOptic Lobe, NonmammalianOptic Neuropathy, IschemicMultiple System AtrophyMutation, MissenseGlutaratesDNA Mutational AnalysisOptic FlowDiabetes InsipidusCerebellar AtaxiaMitochondrial ProteinsMicrocephalyMitochondrial DynamicsMyoclonic Cerebellar DyssynergiaVision, LowElectroretinographySpinal Muscular Atrophies of ChildhoodHearing LossCochleaOptics and PhotonicsVisual FieldsMitochondriaMagnetic Resonance ImagingGenetic LinkageGenes, DominantNerve FibersColor Vision DefectsOptic Nerve GliomaFundus OculiEvoked Potentials, VisualCodon, NonsenseGenetic HeterogeneityPhenotypeAbnormalities, MultipleOptic Nerve DiseasesIntellectual DisabilityOlivopontocerebellar AtrophiesEar, InnerChromosome MappingEvoked Potentials, Auditory, Brain StemNADH DehydrogenaseHomozygoteDisease Models, AnimalLeigh DiseaseMembrane ProteinsMolecular Sequence DataConnexinsVisual Field TestsGyrate AtrophyRetinal DiseasesHearing Loss, UnilateralHair Cells, AuditoryChromosomes, Human, Pair 3Founder EffectGenetic TestingNeurodegenerative DiseasesPoint MutationGeographic AtrophyColobomaBase SequenceStria VascularisFamily HealthSpiral Ganglion

Diabetes mellitusLeberSpastic paraplegiaNeuropathyAutosomal recessiveAtaxiaNonsyndromicDisordersOPA1BilateralCerebellar atrophyOlivopontocerebellar-atrophySyndromeDistalBlindnessNervePontocerebellar hypoplasiaSevere-to-profoundNephropathyGeneticsGeneticNeuritisMutationsPatientsHearing lossGenesDisease

Diabetes mellitus2

• Main symptoms of WS are diabetes mellitus, diabetes insipidus, optic atrophy and deafness. (ut.ee)
• Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, optic atrophy, and diabetes mellitus. (biomedcentral.com)

Leber2

• Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations. (cdc.gov)
• Leber hereditary optic neuropathy (LHON), neurologically-associated retinitis pigmentosa (NARP), myoclonic epilepsy and ragged red-fiber disease (MERRF), maternally inherited myopathy and cardiomyopathy (MMC) (See Taylor & Turnbull, 2005 ). (dorak.info)

Spastic paraplegia1

• Clinically and genetically heterogeneous hereditary spastic paraplegia (HSP) is a group of disorders in which primary symptom is insidiously progressive spasticity (rigid muscles) and weakness of the lower limbs. (preventiongenetics.com)

Neuropathy11

• Patients with symptoms suggestive of inherited optic neuropathy are candidates. (preventiongenetics.com)
• Optic Atrophy (OA) is the most prevalent inherited optic neuropathy besides Leber's hereditary optic neuropathy (LHON). (preventiongenetics.com)
• Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G? (cdc.gov)
• Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation. (cdc.gov)
• Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy. (cdc.gov)
• Optic Neuropathy in Charcot-Marie-Tooth Disease. (cdc.gov)
• 118210). Distal hereditary motor neuropathy (dHMN) (see 158590), or spinal CMT, is characterized by exclusive motor involvement and sparing of sensory nerves (Pareyson, 1999). (nih.gov)
• Ouvrier, R., Geevasingha, N. & Ryan, M. M. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. (mda.org)
• Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (mda.org)
• In the late 1960s, neurophysiologic testing allowed the classification of CMT into 2 groups, one with slow nerve conduction velocities and histologic features of a hypertrophic demyelinating neuropathy (hereditary motor and sensory neuropathy type 1 or CMT1) and another with relatively normal velocities and axonal and neuronal degeneration (hereditary motor and sensory neuropathy type 2 or CMT2). (medscape.com)
• in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. (medscape.com)

Autosomal recessive2

• Clinically, testing of GJB2 and GJB6 plays a prominent role in diagnosis and genetic counseling because mutations in these genes account for more than 50% of severe-to-profound autosomal recessive nonsyndromic deafness in many world populations. (nature.com)
• Although harboring different mutant alleles, patients presented remarkably similar phenotypes typified by an autosomal recessive progressive microcephaly with profound developmental delay, progressive brain atrophy, and hypotonia ( 6 , 7 , 9 ). (frontiersin.org)

Ataxia1

• 1993). The Complicated form of the HSP shows additional neurological signs such as amyotrophy, mental retardation, pigmentary retinal degeneration, optic atrophy, extrapyramidal features, cerebellar ataxia, ichthyosis etc. (preventiongenetics.com)

Nonsyndromic2

• Estimates of the different types of genetic deafness exceed 400, and to date, 60 genes for syndromic and nonsyndromic hearing loss have been identified. (nature.com)
• Molecular genetic tests are available for many types of syndromic and nonsyndromic deafness, although often only on a research basis. (nature.com)

Disorders5

• Tests for optic nerve disorders may include eye exams, ophthalmoscopy (an examination of the back of your eye), and imaging tests . (medlineplus.gov)
• With some optic nerve disorders, you may get your vision back. (medlineplus.gov)
• Available at https://www.ninds.nih.gov/health-information/disorders/olivopontocerebellar-atrophy . (medscape.com)
• An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. (centrodinoferrari.com)
• This concept was initially assigned to the hereditary recurrent fevers but now is expanding to a broad number of disorders. (biomedcentral.com)

OPA12

• Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. (cdc.gov)
• The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. (centrodinoferrari.com)

Bilateral2

• An evaluation of genetic causes and environmental risks for bilateral optic atrophy. (cdc.gov)
• RESULTS: The patient has bilateral optical nerve atrophy. (bvsalud.org)

Cerebellar atrophy2

• Repeated magnetic resonance imaging (MRI) of affected individuals revealed progressive cerebellar atrophy followed by cerebral atrophy involving both white and gray matter. (frontiersin.org)
• However, SEPSECS mutations have been identified in three milder late-onset patients, with cerebellar atrophy first recognized by MRI at 9, 16, and 18 years of age ( 8 , 10 ). (frontiersin.org)

Olivopontocerebellar-atrophy3

• 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)

Syndrome3

• Wolfram syndrome (WS) is a hereditary neurodegenerative disorder, that is associated with mutations in WFS1 gene. (ut.ee)
• Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. (cdc.gov)
• Congenital deafness occurs during pregnancy or delivery and in such syndromes as neurofibromatosis or Usher syndrome. (tabers.com)

Distal2

• Muscular atrophy affecting muscles in the distal portions of the extremities. (nih.gov)
• Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. (mda.org)

Blindness4

• Night blindness is the major ocular feature and at least some have optic atrophy similar to the adult form. (arizona.edu)
• Blindness and deafness commonly occur in childhood. (arizona.edu)
• Dapple dachshunds should not be bred together, as homozygous merle (MM) tend to produce microphthalmia, blindness, deafness, and other abnormalities. (animalia-life.com)
• This report for the first time, describes intractable epilepsy and blindness due to optic atrophy in our patient, who has a microdeletion of the GABRA1 and GABRG2 genes. (bvsalud.org)

Nerve10

• The optic nerve is a bundle of more than 1 million nerve fibers that carry visual messages. (medlineplus.gov)
• Damage to an optic nerve can cause vision loss . (medlineplus.gov)
• Glaucoma usually happens when the fluid pressure inside the eyes slowly rises and damages the optic nerve. (medlineplus.gov)
• Optic neuritis is an inflammation of the optic nerve. (medlineplus.gov)
• Optic nerve atrophy is damage to the optic nerve. (medlineplus.gov)
• 2011). Other symptoms include central or near central scotomas, tritanopia, variable degree of ptosis, central visual field defects and/or ophthalmalgia and optic nerve pallor. (preventiongenetics.com)
• Role of ultrasonographic optic nerve sheath diameter in the diagnosis and follow-up of papilledema and its correlation with Frisén's severity grading. (cdc.gov)
• Toxic deafness may result from exposure to such agents as salicylates, diuretics, or aminoglycoside antibiotics, or be due to infections of the central nervous system (meningococcal meningitis, syphilis) or of the eighth cranial nerve. (tabers.com)
• Optic nerve atrophy was evaluated with fundus photography in human while electronic microscopy, visual evoked potential and electroretinography recordings were conducted in mice. (bvsalud.org)
• Electronic microscopy showed that mice also had optic nerve degeneration, as indicated by increased G-ratio, the ratio of the inner axonal diameter to the total outer diameter, suggesting impaired myelination of axons. (bvsalud.org)

Pontocerebellar hypoplasia1

• Mutations in the human O -phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene ( SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). (frontiersin.org)

Severe-to-profound1

• Remarkably, p.Ala684Val in WFS1 is associated with early-onset severe-to-profound deafness, revealing a strong candidate variant for CI. (biomedcentral.com)

Nephropathy1

• Mutations in COL4A1 have also been found in the multisystem disease known as HANAC ( Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps ) ( 611773 ) in which tortuosity of the retinal arterioles is also seen. (arizona.edu)

Genetics1

• METHODS: A case-control methodology was used to investigate the demographic, optic disc, and genetic risk factors of subjects in the Primary Open-Angle African American Glaucoma Genetics Study. (bvsalud.org)

Genetic2

• As the rate of acquired hearing loss secondary to environmental causes decreases and improvements in the diagnosis of abnormalities occur, the significance of genetic factors that lead to deafness increases. (nature.com)
• Table 1 indicates the other forms of deafness for which molecular genetic testing is currently available. (nature.com)

Neuritis1

• Typical symptoms of relapses may be referable to demyelinating pathology involving the optic nerves (e.g. optic neuritis), brainstem (e.g. internuclear ophthalmoplegia) or spinal cord (e.g. partial myelitis), although non-specific symptoms referable to the cerebral hemispheres or other brain regions can also occur (Katz Sand and Lublin, 2013). (medscape.com)

Mutations2

• SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. (cdc.gov)
• We hereby report on a mild phenotype without progressive microcephaly and brain atrophy up to 3 years of age in a Chinese pediatric patient who harbored biallelic SEPSECS mutations. (frontiersin.org)

Patients1

• The aim of this review is to provide a comprehensive framework underlying the causes of hearing impairment and to detail the clinical management for patients with hereditary hearing loss. (nature.com)

Hearing loss4

• 1 The expression patterns of these genes in the inner ear can be visualized on the Hereditary Hearing Loss Homepage ( http://webh01.ua.ac.be/hhh/ ) ( Fig. 1 ). (nature.com)
• Hereditary Hearing Loss Homepage, 2003. (nature.com)
• 150 different loci have been identified as contributors to hereditary hearing loss ( https://hereditaryhearingloss.org/ ) [ 3 ]. (biomedcentral.com)
• More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. (elsevierpure.com)

Genes2

• Interestingly, a few deafness-related genes with distinct phenotypes exist depending on the genotype and inheritance pattern. (biomedcentral.com)
• Thus, a thorough analysis of the clinical profiles and genotypes of these rare genes related to deafness is essential. (biomedcentral.com)

Disease1

• This is a hereditary disease. (hypoallergenicdog.net)