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1,053 Possible Causes for Dysmetria, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] On the left side, no change of dysmetria was observed. Table 3.[frontiersin.org]

  • X-Linked Spastic Paraplegia Type 2

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] A trace of terminal dysmetria may also be found in the upper limbs, but more florid cerebellar signs are not seen.[jnnp.bmj.com] Moderate truncal ataxia was present with bilateral dysmetria and dysdiadochokinesia. It was not possible to assess cerebellar function in the legs due to weakness.[journals.plos.org]

    Missing: Mutation in the VPS53 Gene
  • Cerebellar Hypoplasia and Atrophy

    Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia B Ben-Zeev 1, C Hoffman 2, D Lev 3, N Watemberg 3, G[jmg.bmj.com] Hypoplasia of the corpus callosum Poor head control Infantile encephalopathy Epicanthus Scoliosis Pica Abnormality of the basal ganglia Hyperkinesis Facial diplegia Amblyopia Dysmetria[mendelian.co] She cannot read letters but can follow 1-step commands, can pass objects between her hands, and reaches for objects without evidence of dysmetria or dysdiadochokinesia.[jamanetwork.com]

  • Cerebellar Stroke

    Andreason suggests the presence of cognitive dysmetria due to cerebellar involvement in schizophrenia which is analogous to motor dysmetria so far described in cerebellar[ijpm.info] […] peduncle, PCA Benedikt syndrome ventral tegmentum, PCA Parinaud's syndrome dorsal, tumor Nothnagel's syndrome Claude's syndrome Other Alternating hemiplegia Cerebellum lateral (Dysmetria[en.wikipedia.org] Damage to the cerebellum can lead to: 1) loss of coordination of motor movement (asynergia), 2) the inability to judge distance and when to stop (dysmetria), 3) the inability[neuroskills.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Spastic Ataxia with Congenital Miosis

    […] hearing loss and ataxia Dominant optic atrophy with ataxia and pes cavus Recessive optic atrophy with progressive hearing loss, spastic quadriplegia, mental deterioration[pedseyes.org] Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia.[findzebra.com] A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features[emedicine.medscape.com]

    Missing: Mutation in the VPS53 Gene
  • Spinocerebellar Ataxia with Axonal Neuropathy

    quadriplegia, and mental retardation, Spinocerebellar ataxia, Stargardt disease ELOVL5 Spinocerebellar ataxia FBXL4 Mitochondrial DNA depletion syndrome FGF14 Spinocerebellar[genda.com.ar] Craniofacial Ocular dysmetria General Onset after age 40 years Slow progression Neurologic Abnormality Cerebellar atrophy Cortical and subcortical atrophy Decreased vibratory[datagenno.com] He showed gait ataxia, horizontal and vertical ophthalmoparesis, mild dysarthria, dysphagia, dysmetria and dysdiadochokinesia.[karger.com]

    Missing: Mutation in the VPS53 Gene
  • Spastic Paraplegia

    A 29-year-old man developed progressive spastic quadriplegia from early childhood with dysarthria, ataxia, dysphagia, and intellectual delay, but he displayed no nystagmus[ncbi.nlm.nih.gov] Dysmetria Occurs due to cerebellar involvement.[medicaljoyworks.com] Neurologic examination of individuals with this mutation may show dysmetria in the upper extremities, hyperreflexia, distal amyotrophy and ankle clonus, in addition to spasticity[en.wikipedia.org]

    Missing: Mutation in the VPS53 Gene
  • Lyme Neuroborreliosis

    We report the case of a 23-year-old male patient who suddenly developed right hemiparesis, cerebellar ataxia, dysarthria, and bilateral dysmetria.[ncbi.nlm.nih.gov] The neurological examination showed a Horner syndrome and dysmetria on the right side, dysarthria, as well as gait ataxia.[omicsonline.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Intracerebral Hematoma

    Toxicological investigations were performed on an intracerebral hematoma, antemortem blood, and postmortem blood of an individual who was found unresponsive in his home. The hematoma was found to have ethanol at a concentration of 0.05% (w/v), and benzoylecgonine (a cocaine metabolite) was also confirmed at a[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Cerebellar Neoplasm

    Tumors of the cerebellum Supplemental material : Video of saccadic dysmetria (same patient as above).[dizziness-and-balance.com] Lesions involving the cerebellar hemispheres are more likely to show limb ataxias and associated dysmetria.[clinicalgate.com] […] quadrantanopia, behavioral alterations Occipital lobe Contralateral hemianopia Thalamus Contralateral sensory loss, behavioral changes, language disorder Cerebellum Ataxia, dysmetria[aafp.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia

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