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1,209 Possible Causes for Babinski Sign, 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] sign and mild cognitive impairment were present.[pesquisa.bvsalud.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] 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] There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]

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

    […] disorders including pseudobulbar palsy and spastic quadriplegia.[orpha.net] Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign.[en.wikipedia.org] Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs.[thieme-connect.com]

    Missing: Mutation in the VPS53 Gene
  • Presenile Dementia with Bone Cysts

    Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy[nectarmutation.org] sign EEG abnormality Aggressive behavior IgA deficiency Multifactorial inheritance Cellular immunodeficiency Osteoporosis Increased LDL cholesterol concentration Increased[mendelian.co] Stomatitis Folate deficiency Vitamin K deficiency Steatorrhea Vitamin B12 deficiency Spasticity Pain Ventriculomegaly Edema Hypoplasia of the corpus callosum Cerebral atrophy Babinski[mendelian.co]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Dominant Spastic Paraplegia Type 6

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] Related phenotypes are babinski sign and talipes equinovarus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE27 gene[malacards.org] Showing of 26 80%-99% of people have these symptoms Babinski sign 0003487 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Impaired vibratory sensation[rarediseases.info.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Dominant Spastic Paraplegia Type 13

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] sign 60 33 occasional (7.5%) Frequent (79-30%) HP:0003487 4 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340 5 impaired vibration sensation in[malacards.org] 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: Mutation in the VPS53 Gene
  • Hereditary Spastic Paraplegia

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] The clinical picture is composed of difficulty walking, exaggerated deep reflexes, pathological reflexes such as the Babinski sign, sphincter disturbances and various degrees[clinicaltrials.gov] Hoffmann's sign and Babinski's sign also can be seen.[explainmedicine.com]

    Missing: Mutation in the VPS53 Gene
  • Isolated Succinate-CoQ Reductase Deficiency

    Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy[genecards.org]

    Missing: Mutation in the VPS53 Gene
  • Autosomal Dominant Spastic Paraplegia Type 4

    Autosomal dominant hereditary spastic paraplegia: A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP.[medicinenet.com] Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinski sign.[bmcmedgenet.biomedcentral.com] sign 0003487 Distal sensory impairment Decreased sensation in extremities 0002936 Hyperreflexia Increased reflexes 0001347 Impaired vibration sensation in the lower limbs[rarediseases.info.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Behr Syndrome

    Microcephaly and progressive neurologic impairment with spastic quadriplegia, seizures, and dystonia have been reported. [ Sweetman & Williams 2001, Ijlst et al 2002, Illsinger[ncbi.nlm.nih.gov] sign, and incoordination.[whonamedit.com] Unusual foot reflexes (a positive Babinski sign) may also be experienced by the patient when the sole is stimulated.[medigest.uk]

    Missing: Mutation in the VPS53 Gene