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150 Possible Causes for Nystagmus, Postural Defect

  • Homocystinuria

    Other findings included peripheral retinopathy (8/12 [67%]), nystagmus (8/12 [67%]), strabismus (5/12 [42%]), and optic atrophy (6/12 [50%]).[] Case 2 involves an 8-year-old girl with nystagmus and developmental delay in whom megaloblastic anaemia was detected at 11 weeks of age.[] A majority of children had hypotonia and nystagmus.[]

  • Central Positional Vertigo

    DBN is mostly due to a bilateral defect of the cerebellar flocculus ( 3 ).[] The first case had combined torsional and horizontal nystagmus to the right in a head-hanging position. The nystagmus lacked latency and did not diminish easily.[] Persistent direction-changing positional nystagmus: another variant of benign positional nystagmus? Neurology. 1995 ; 45 : 1297–1301.[]

  • Pelizaeus-Merzbacher Disease

    Female heterozygotes Female heterozygotes are women who carry one copy of the defective gene and one good copy of the gene.[] […] in two patients in whom the waveform of the nystagmus was not obvious on inspection.[] The former had spontaneous vertical pendular nystagmus.[]

  • Ataxia Telangiectasia

    Defects in speech Spider-like veins visible along the skin and eyes Recurrent lung, sinus, and ear infection Slow physical and sexual maturation How is Ataxia Telangiectasia[] Abnormal ocular movements were seen in 13/15 (saccadic intrusion in 8 and nystagmus in 5).[] -year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus[]

  • Ataxic Cerebral Palsy

    The postural defects and resulting joint instability may lead to increased wear and tear of the weight bearing joints in the body.[] The most common facial ataxic symptoms are jerky speech patterns and abnormal eye movements called nystagmus.[] Case 5, a 8-year-old boy showed head nodding and nystagmus since 4 months of age. He started ataxic gait at 8 years of age.[]

  • Parinaud Syndrome

    […] normal range 1,2,3 Signs The sign of Parinaud Syndrome is divided into two components – Major components and Minor components Major Components Disorder in vertical gaze Defective[] Only 65.0% patients had the classical triad of vertical gaze palsy, convergence-retraction nystagmus and light-near dissociation.[] If they strain to look up, contraction of lower eye muscles may lead to the aforementioned nystagmus.[]

  • Ocular Albinism

    Furthermore, patients should be counseled about maintaining a correct head posture to prevent nystagmus. Peripheral retinal defects are often treated with cryopexy.[] BACKGROUND: Nystagmus is common to all types of albinism.[] Video Horizontal Pendular Nystagmus. (00:21) A 32-year-old Hispanic woman with ocular albinism presented with a congenital horizontal pendular nystagmus (see video ).[]

  • Refsum Disease

    […] to regulate the body’s posture, as well as the strength and direction of the body’s movements.[] IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor[] Other symptoms may include rapid, jerky eye movements (nystagmus), floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia), mental and growth retardation,[]

  • Episodic Ataxia

    In particular, the amino acid change p.Thr226Arg is associated with epilepsy, infantile contractures, postural abnormalities, and skeletal deformities.[] Between attacks they have nystagmus and dysarthria. These patients are responsive to acetazolamide.[] Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive[]

  • Cerebellar Ataxia

    Cerebellar lesion Signs or Function Posterior (Flocculo-nodular lobe; Archicerebellum) Eye movement disorders: Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction[] A 54-year-old woman with adenocarcinoma of the lung and lymph node metastasis experienced nystagmus and cerebellar ataxia 2 weeks after initiating nivolumab therapy.[] Vestibular function testing showed severely reduced horizontal nystagmus in response to bithermal caloric stimulation.[]

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