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1,052 Possible Causes for Babinski Sign, Caused by Mutation in the Senataxin Gene, Hyperactive Brainstem Reflexes

  • Amyotrophic Lateral Sclerosis Type 4

    […] tendon reflexes, and Babinski signs.[neuropathology-web.org] During neurological examination, pyramidal signs can be observed. ALS4 patients show hyperreflexia, have brisk deep-tendon reflexes and the Babinski sign is present.[symptoma.com] There are no standard laboratory tests for upper motor neuron disease, but spasticity (a specific type of stiffness), abnormally brisk tendon reflexes, Babinski’s sign and[memory.ucsf.edu]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    […] tendon reflexes, and Babinski signs.[neuropathology-web.org] sign 0003487 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Infantile onset Onset in first year of life Onset in infancy [ more[rarediseases.info.nih.gov] In about 25% of cases, ALS begins with brainstem symptoms (dysarthria, difficulty swallowing) followed by extremity weakness.[neuropathology-web.org]

    Missing: Caused by Mutation in the Senataxin Gene
  • Juvenile Primary Lateral Sclerosis

    […] tendon reflexes, and Babinski signs.[neuropathology-web.org] Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign.[en.wikipedia.org] All deep tendon reflexes were exaggerated with bilateral ankle clonus and Babinski sign. There was no sensory or cerebellar dysfunction.[neurologyindia.com]

    Missing: Caused by Mutation in the Senataxin Gene
  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    It is caused by a mutation in the senataxin gene found on chromosome 9q34. 41, 139 The senataxin protein is known to have a role in RNA processing. 41 Sporadic Amyotrophic[clinicalgate.com] […] tendon reflexes, and Babinski signs.[neuropathology-web.org] sign 62% Male, female distribution ratio 1:1 Biochemical study: Low plasma citrate and elevated pyruvate levels and resulting low citrate/pyruvate ratio have been observed[rarediseasesindia.org]

  • Autosomal Recessive Spastic Paraplegia Type 18

    […] by mutations to the SETX gene (9q34.13), which codes for senataxin, a helicase involved in DNA transcription and repair and the processing of several types of RNA. 35 The[elsevier.es] The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign.[orpha.net] Showing of 42 30%-79% of people have these symptoms Abnormality of jaw muscles 0045037 Ankle contracture 0006466 Babinski sign 0003487 Cough Coughing 0012735 Delayed gross[rarediseases.info.nih.gov]

    Missing: Hyperactive Brainstem Reflexes
  • Autosomal Recessive Spastic Paraplegia Type 7

    […] by mutations to the SETX gene (9q34.13), which codes for senataxin, a helicase involved in DNA transcription and repair and the processing of several types of RNA. 35 The[elsevier.es] The deep tendon reflexes were increased in all four limbs, but Babinski sign was not elicited bilaterally. Neither ankle nor knee clonus was observed.[nature.com] Other common symptoms of HSP are urinary urgency and frequency, hyperactive reflexes, difficulty with balance, clonus, Babinski’s sign, diminished vibration sense in the feet[sp-foundationorg.presencehost.net]

    Missing: Hyperactive Brainstem Reflexes
  • Autosomal Recessive Spastic Paraplegia Type 46

    […] by mutations to the SETX gene (9q34.13), which codes for senataxin, a helicase involved in DNA transcription and repair and the processing of several types of RNA. 35 The[elsevier.es] Showing of 36 80%-99% of people have these symptoms Babinski sign 0003487 Impaired vibratory sensation Decreased vibration sense Decreased vibratory sense Diminished vibratory[rarediseases.info.nih.gov] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

    Missing: Hyperactive Brainstem Reflexes
  • Autosomal Recessive Spastic Paraplegia Type 14

    […] by mutations to the SETX gene (9q34.13), which codes for senataxin, a helicase involved in DNA transcription and repair and the processing of several types of RNA. 35 The[elsevier.es] Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign[omicsonline.org] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

    Missing: Hyperactive Brainstem Reflexes
  • Autosomal Recessive Spastic Paraplegia Type 20

    […] by mutations to the SETX gene (9q34.13), which codes for senataxin, a helicase involved in DNA transcription and repair and the processing of several types of RNA. 35 The[elsevier.es] sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [3] This gene[rarediseases.info.nih.gov] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

    Missing: Hyperactive Brainstem Reflexes
  • Autosomal Recessive Spastic Paraplegia Type 57

    […] by mutations to the SETX gene (9q34.13), which codes for senataxin, a helicase involved in DNA transcription and repair and the processing of several types of RNA. 35 The[elsevier.es] Reflexes were brisk, and he showed ankle clonus and a Babinski sign on the left.[ng.neurology.org] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

    Missing: Hyperactive Brainstem Reflexes

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