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298 Possible Causes for Increased Ankle Reflex, Lack of Developmental Milestones, Mutation in the VPS53 Gene

  • Pontocerebellar Hypoplasia Type 2E

    Her tone was increased in both upper and lower extremities with brisk tendon reflexes and bilateral ankle clonus. Babinski sign was positive bilaterally.[annalsofian.org] 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] 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.[popsci.com]

  • 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[birthinjuryguide.org] 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[birthinjuryguide.org]

    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[…][oadoi.org]

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

    In analyzing cerebral thrombosis at altitude--own case and in the literature--we anatomically confirmed that cerebral thrombi in mountain sickness were all of venous origin. All climbers went higher than 5,000 m and most stayed in that altitude longer than 3 weeks. Hemoconcentration was confirmed in two cases,[…][ncbi.nlm.nih.gov]

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

    Uncontrolled hyperthyroidism in pregnancy is associated with an increased risk of perinatal complications. The state of the art discussed here has been derived through a wide MEDLINE search throughout English-language literature by using a combination of words such as hyperthyroidism, propylthiouracil (PTU),[…][ncbi.nlm.nih.gov]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Primary Progressive Multiple Sclerosis

    We present three patients with a clinical course and cerebrospinal fluid findings consistent with a diagnosis of primary progressive multiple sclerosis (PPMS). Extensive and repeated magnetic resonance imaging (MRI) examinations showed only diffuse abnormality in brain and spinal cord, but no focal lesions. We propose[…][ncbi.nlm.nih.gov]

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

    The authors describe a rare case of diaphragmatic paralysis caused by cervical spondylosis. A 64-year-old man presented with dyspnea as well as cervical radicular pain and left-sided upper-extremity motor weakness. Chest radiography revealed elevation of both sides of the diaphragm. All symptoms were ameliorated[…][ncbi.nlm.nih.gov]

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

    Intracerebral hemorrhage is a rare event during pregnancy that can result in serious morbidity and mortality for the mother and infant. In this article, we describe a case involving a multiparous woman at 34 weeks gestation who presented with a 5-cm intracerebral bleed. Within 2 hours of presenting, she underwent[…][ncbi.nlm.nih.gov]

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

    Background The association of hyperthyroidism with renal disease is very rare and the importance of timely clinical recognition cannot be overemphasized. Case presentation An 11-year-old girl presented with gastrointestinal symptoms while hypertension, edema and abdominal pain were noticed on clinical examination.[…][ncbi.nlm.nih.gov]

    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[…][en.wikipedia.org]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene