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447 Possible Causes for Ankle Clonus, Lack of Developmental Milestones, Mutation in the VPS53 Gene

  • Pontocerebellar Hypoplasia Type 2E

    The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[] Her tone was increased in both upper and lower extremities with brisk tendon reflexes and bilateral ankle clonus. Babinski sign was positive bilaterally.[] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[]

  • Epidural Hematoma

    […] movements Delays developmental milestones and motor skills Difficulty grasping and holding onto objects Muscle tone may vary, changing from extremely rigid to extremely floppy[] In the meantime, the most important thing you can do is observe your child and look for typical signs and symptoms of CP, including: Lack of coordination and jerky, spastic[]

    Missing: Mutation in the VPS53 Gene
  • Stroke

    The Rational Clinical Examination Clinician's Corner May 18, 2005 JAMA. 2005;293(19):2391-2402. doi:10.1001/jama.293.19.2391 Context Patients suspected of having a stroke or transient ischemic attack require accurate assessment for appropriate acute treatment and use of secondary preventive interventions. Objective[…][]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Subdural Hematoma

    A subdural hematoma (SDH) is a type of hematoma—usually associated with traumatic brain injury—in which blood gathers between the inner layer of the dura mater and the arachnoid mater. It usually results from tears in bridging veins that cross the subdural space. Subdural hematomas may cause an increase in[…][]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Brain Neoplasm

    Neurologic examination revealed severe right leg weakness with hyperreflexia, ankle clonus, and a questionable plantar response.[]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Growth Failure

    Some children who fail to thrive exhibit the following symptoms: lack of weight gain delays in reaching developmental milestones, such as rolling over, crawling, and talking[] Gait apraxia may develop some children being unwilling to walk at all and hyperreflexia with sustained ankle clonus can be found.[] […] learning disabilities lack of emotions, such as smiling, laughing, or making eye contact delayed motor development fatigue irritability delayed puberty in teens Regular checkups[]

    Missing: Mutation in the VPS53 Gene
  • Brain Abscess

    The incidence of brain abscess is higher among immunosuppressed patients. We report a case of a brain abscess in the temporal lobe in a patient under treatment with adalimumab and methotrexate, who developed radiological worsening. Clinical remission was essential to suspect Immune Reconstitution Inflammatory[…][]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Congenital Muscular Dystrophy

    Pediatr Neurol. 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016. Author information 1 Department of Neurology, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium. Abstract Mutations in the lamin A/C gene determine a heterogeneous group of congenital diseases, termed[…][]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Hyperpyrexia

    […] of expected normal physiological development Excludes: delayed puberty ( E30.0 ) R62.0 Delayed milestone Delayed attainment of expected physiological developmental stage[] Her examination was further notable for increased tone in her extremities, inducible ankle clonus and hyperreflexia.[] Late: · talker · walker R62.8 Other lack of expected normal physiological development Failure to: · gain weight · thrive Infantilism NOS Lack of growth Physical retardation[]

    Missing: Mutation in the VPS53 Gene
  • Paraparesis

    Spastic weakness is characterized by increased muscle stretch reflexes, strong leg recoil to a sudden intense pull, and sustained ankle clonus.[] clonus and bilateral Babinski sign.[] Assessment of motor functions revealed mild lower limb spasticity, global and symmetrical muscle strength of 4/5 in lower extremities, hyperreflexia, ankle clonus, and bilateral[]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene

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