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1,496 Possible Causes for Fainting Spells, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] Main features include failure to thrive, signs of hyperammonemia (anorexia, irritability, tachypnea, lethargy, vomiting), and additional neurologic signs (progressive spastic[accessanesthesiology.mhmedical.com] quadriplegia, seizures, mental retardation, hyperactivity).[accessanesthesiology.mhmedical.com]

    Missing: Mutation in the VPS53 Gene
  • Juvenile Primary Lateral Sclerosis

    […] disorders including pseudobulbar palsy and spastic quadriplegia.[orpha.net] Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs.[thieme-connect.com] During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron[orpha.net]

    Missing: Mutation in the VPS53 Gene
  • 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] 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]

    Missing: Fainting Spells
  • Pyruvate Carboxylase Deficiency

    Progressive illness leads to spastic diplegia or quadriplegia and positive Babinski sign.[symptoma.com] Progressive motor pathway degeneration results in positive Babinski sign and spastic diplegia or quadriplegia.[emedicine.medscape.com]

    Missing: Mutation in the VPS53 Gene
  • Hyperammonemia Type 3

    progressive spastic diplegia • quadriplegia, • intellectual impairment, •recurrent vomiting, •delayed growth, • seizures. 29. hyperinsulinism hyperammonemia syndrome (glutamatedehydrogenase[slideshare.net]

    Missing: Mutation in the VPS53 Gene
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

    progressive spastic diplegia • quadriplegia, • intellectual impairment, •recurrent vomiting, •delayed growth, • seizures. 29. hyperinsulinism hyperammonemia syndrome (glutamatedehydrogenase[slideshare.net]

    Missing: Mutation in the VPS53 Gene
  • Insect Bite

    Insect bites may be inflicted by mosquitos, fleas, bugs, lice and a plethora of other species pertaining to distinct families of the order insects. While they are of little medical interest in the vast majority of cases, immunocompromised or allergic patients may suffer from severe reactions to an insect bite. Most[…][symptoma.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Carbamoyl Phosphate Synthetase Deficiency

    […] syndrome Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital erythropoietic porphyria Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] quadriplegia syndrome Congenital intrinsic factor deficiency Congenital lactase deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe[se-atlas.de] […] encephalopathy-progressive cerebral atrophy syndrome Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with intellectual disability[se-atlas.de]

    Missing: Mutation in the VPS53 Gene
  • Hyperventilation

    One must rely solely on a very careful history and elicit time of onset and place to get a possible lead if it is a patient complaining of having had “fainting spells,” “heart[aafp.org] ‘Patients can reproduce these spells by hyperventilating in a controlled environment.’[en.oxforddictionaries.com] ‘So does that mean you become light headed and silly, or faint, as you would if you hyperventilated at sea level?’[en.oxforddictionaries.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Hypoglycemia

    We present a case of an 85-year-old man who presented to the endocrinology clinic with symptoms of "fainting spells after large meals."[ncbi.nlm.nih.gov] Because of the history of Billroth II surgery and the description of his fainting spells, a 5-hour glucose tolerance test was performed in the clinic using the foods that[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia