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439 Possible Causes for Areflexia, Cerebellar Ataxia, Progressive Loss of Vision

  • Boucher-Neuhäuser Syndrome

    We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhäuser syndrome, a rare but distinct pleiotropic single[] The signs and symptoms of Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome may include: Abnormality of metabolism/homeostasis Areflexia Cerebellar atrophy Distal amyotrophy[] Progressive loss of vision, dyschromatopsia, and photophobia are the primary ocular symptoms. Night blindness and constricted visual fields are noted by some patients.[]

  • Leptomeningeal Metastasis

    A year thereafter, she was admitted again with confusion and ataxia, at which time T2-weighted images revealed an impression of widened cerebellar sulci ( Fig 2A ).[] This produces a lower motor neuron pattern characterized by hypotonia, areflexia, muscle atrophy and fasciculations.[] Use of computer tablets or paper notes may be indicated if the patient has hearing loss; voice-activated computer or cell phone aids may help if the patient has vision loss[]

  • Friedreich Ataxia

    Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.[] Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease, characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski[] Friedreich ataxia (FRDA) is typically characterized by slowly progressive ataxia, depressed tendon reflexes, dysarthria, pyramidal signs, and loss of position and vibration[]

  • Spinocerebellar Ataxia Type 4

    The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy.[] 29% of people have these symptoms Motor axonal neuropathy 0007002 Sensory axonal neuropathy 0003390 Percent of people who have these symptoms is not available through HPO Areflexia[] […] or deafness and progressive vision loss.[]

  • Abetalipoproteinemia

    Clinical findings Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhoea, chronic diarrhoea, anaemia, failure to thrive.[] Patients develop spinocerebellar ataxia, areflexia, and weakness, accompanying a diffuse neuromuscular disease that resembles Friedreich ataxia.[] Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood.[]

  • CAPOS Syndrome

    (Also known as/Synonyms) CAPOS Syndrome Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss What is Cerebellar Ataxia, Areflexia, Pes Cavus, Optic[] Vision changes ( optic atrophy ) and sensorineural hearing loss tend to worsen over time, although the severity and rate of progression varies. [1] [2] [3] Long-term management[] The clinical features that progress inthis disorder are more generalized and symmetric; theyinclude progressive gait ataxia and loss of vision andhearing.[]

  • Autosomal Recessive Spastic Paraplegia Type 49

    INTRODUCTION Autosomal recessive cerebellar ataxias (ARCA) constitute a subgroup of the hereditary cerebellar ataxias[ 1 ].[] […] mesenchymal dysgenesis Harlequin syndrome Microcoria, congenital Pseudoxanthoma elasticum, forme fruste Laurin-Sandrow syndrome Spinocerebellar ataxia 34 Cerebellar ataxia, areflexia[] Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, et al. (2008) Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and[]

  • Oculomotor Apraxia

    Abstract Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases.[] Abstract Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and[] Ataxia with oculomotor apraxia is a rare disorder with an average onset age of 15 that causes muscle control problems and loss of peripheral vision.[]

  • Vitamin E Deficiency

    Subjects affected by cerebellar ataxia due to congenital isolated vitamin E deficiency (AVED) show vitamin E deficiency caused by a selective impaired gastrointestinal absorption[] A progressive neurological disorder comprising ataxia, areflexia, and loss of proprioception developed in their sixth and seventh decades.[] Some affected individuals may experience vision loss due to damage to the back of the eye ( retinitis pigmentosa ).[]

  • Neuronal Ceroid Lipofuscinosis

    We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[] Centripetalis recessive dystrophic epidermolysis bullosa Centronuclear myopathy type 4 Centrotemporal epilepsy CEP CEPT deficiency Ceramidase deficiency Cerebellar ataxia - areflexia[] Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death,[]

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