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126 Possible Causes for Hyperreflexia, Variable Psychomotor Retardation

  • Pallidopyramidal Syndrome

    Affected patients exhibit a variable clinical picture that frequently includes psychomotor retardation or regression, recurrent episodes of vomiting, failure to thrive, signs[ajnr.org] Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dystonia 0001332 Hyperreflexia[rarediseases.info.nih.gov] Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia.[ghr.nlm.nih.gov]

  • Leigh's Disease

    Clinical presentation is variable; patients often exhibit psychomotor retardation, vomiting, failure to thrive, and signs of brain stem and basal ganglia dysfunction. 4 Ophthalmologic[healio.com] A 4 1/2-month-old girl suffered from psychomotor retardation, generalized hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age[ncbi.nlm.nih.gov] Affected patients exhibit a variable clinical picture that frequently includes psychomotor retardation or regression, recurrent episodes of vomiting, failure to thrive, signs[ajnr.org]

  • Spinocerebellar Ataxia Type 13

    SCAR13 is characterized by delayed psychomotor development beginning in infancy.[uniprot.org] : Clinical features Age of onset - 43-56 years Slow progression Gait and limb ataxia Dysarthria Occular dysmetria Slow saccades Decreased vibratory sense below the knees Hyperreflexia[emedicine.com] However, other common SCA28 features like pyramidal tract signs (lower limb hyperreflexia, positive Babinski sign), ophthalmoparesis or ptosis were absent.[lf2.cuni.cz]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Rarely it is an etiology of psychomotor retardation of childhood. Lens dislocation outside of the neonatal period is a common finding but of variable onset.[clinicaladvisor.com] Hyperreflexia MedGen UID: 57738 • Concept ID: C0151889 • Finding Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and[ncbi.nlm.nih.gov] Spasticity and hyperreflexia are often present but some newborn infants are hypotonic.[disorders.eyes.arizona.edu]

  • Cerebrotendinous Xanthomatosis

    In infancy: Diarrhea Cataracts Psychomotor retardation Pyramidal/cerebellar signs: pyramidal and cerebellar are parts of the brain/central nervous system In adulthood: Neurologic[ulf.org] Physical examination at that time confirmed gait ataxia, dysarthria, hyperreflexia of deep tendon reflexes and psychomotor slowing.[nature.com] […] dysfunction with variable time of onset Mental retardation leading to dementia Psychiatric symptoms, including behavioral changes, hallucinations, agitation, aggression,[ulf.org]

  • Mitochondrial Complex 3 Deficiency

    Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and[genecards.org] […] cardiomyopathy and deafness; trna-lys-related cardiomyopathy-hearing loss syndrome Related symptoms: Ataxia Sensorineural hearing impairment Muscle weakness Peripheral neuropathy Hyperreflexia[mendelian.co] Disease description A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected.[uniprot.org]

  • Mucolipidosis Type 4

    Mucolipidosis IV [MCOLN1]: Severe neurodegenerative condition characterized by a variable degree of growth and psychomotor retardation, abnormalities of the cornea and retina[jewishgeneticdiseases.org] 0010318 Corneal opacity 0007957 Developmental stagnation 0007281 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Ganglioside accumulation 0004345 Hyperreflexia[rarediseases.info.nih.gov] Clinically, MLIV is characterized by a variable degree of growth and psychomotor retardation that is apparent as early as the first year of life.[doi.org]

  • Xanthinuria

    This enzymatic defect is associated with a pure encephalopathy comprising variable association of symptoms: psychomotor retardation, epilepsy, hypotonia (axial or generalised[jmg.bmj.com] Molybdenum cofactor deficiency The other inherited form of xanthinuria, termed molybdenum cofactor deficiency, presents in the neonatal period with microcephaly, hyperreflexia[emedicine.medscape.com]

  • Congenital Disorder of Glycosylation Type 1I

    Although there is considerable variability in the clinical phenotypes observed in CDG-Ia patients, there is always some level of psychomotor retardation and is most cases[themedicalbiochemistrypage.org] Abnormal blood clotting 0001928 Autosomal recessive inheritance 0000007 Coloboma Notched pupil 0000589 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 Hyperreflexia[rarediseases.info.nih.gov] They showed craniofacial dysmorphy, stereotypic hands movement, and psychomotor retardation to a variable degree.[nature.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    retardation, retinal dystrophy, infantile onset, cerebellar atrophy [ 73 , 74 ] SCAR16 STUB1 615768 Pyramidal signs, neuropathy, occasional hypogonadism, variable age at[cerebellumandataxias.biomedcentral.com] […] coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia[rarediseases.info.nih.gov] Hyperreflexia, extensor plantar response and increased muscle tone are the recognized UMN signs where as the weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations[explainmedicine.com]

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