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2,054 Possible Causes for Hyperreflexia, 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] We present 37 years old HIV infected men, with postural dizziness, followed by gait disturbances, and a cerebellar syndrome, scanned speech, hyperreflexia, pendular reflexes[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] People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control.[icdlist.com] SPG2 is characterized by spastic gait and hyperreflexia.[malacards.org]

    Missing: Mutation in the VPS53 Gene
  • Spastic Paraplegia

    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] This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities.[ncbi.nlm.nih.gov] On neurological examination, he showed hyperreflexia, spasticity, and weakness in the lower extremities and bilateral Babinski reflexes.[ncbi.nlm.nih.gov]

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

    […] disorders including pseudobulbar palsy and spastic quadriplegia.[orpha.net] Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are muscle weakness and hyperreflexia Genetics Home Reference : 25 Juvenile primary lateral[malacards.org] It is inherited in an autosomal recessive pattern. 0002141 Hyperreflexia Increased reflexes 0001347 Muscle weakness Muscular weakness 0001324 Pseudobulbar behavioral symptoms[rarediseases.info.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Primary Lateral Sclerosis

    This 69-year-old woman developed spastic quadriplegia and dementia over 12 years. Left leg weakness progressed over 7 years to paraplegia, then quadriplegia by age 68.[ncbi.nlm.nih.gov] […] disease; a slowly progressive degenerative disorder of the motor neurons of the cerebral cortex, resulting in widespread weakness on an upper motor neuron basis; spasticity, hyperreflexia[medical-dictionary.thefreedictionary.com] Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs.[ncbi.nlm.nih.gov]

    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] Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia[orpha.net] 0001288 Impaired vibratory sensation Decreased vibration sense Decreased vibratory sense Diminished vibratory sense Impaired vibratory sense [ more ] 0002495 Lower limb hyperreflexia[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] 33 HP:0002395 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: lower limb spasticity ankle clonus spastic gait lower limb hyperreflexia extensor[malacards.org] Symptoms include hyperreflexia, extensor plantar responses, degeneration of the lateral corticospinal tracts, decreased vibratory sense in the lower limbs, pes cavus and atrophy[cags.org.ae]

    Missing: Mutation in the VPS53 Gene
  • Central Pontine Myelinolysis

    Signs and symptoms include confusion, lethargy, dysarthria, dysphagia, tremor, and profound bilateral weakness that may progress to spastic quadriplegia and “locked in syndrome[ijam-web.org] ., horizontal gaze paralysis), impaired speech or swallowing, and signs of spastic quadriplegia such as limb weakness, increased tonicity of the limb muscles, and hyperreflexia[symptoma.com] There is progressive failure of verbal articulation (dysarthria) and spastic paralysis in all four limbs (quadriplegia).[medical-dictionary.thefreedictionary.com]

    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] Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia[ncbi.nlm.nih.gov] People with this disorder may also have hyperreflexia, spasms ankles, lifting arch and decreased bladder control.[ivami.com]

    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] From Wikidata Jump to navigation Jump to search genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia[wikidata.org] Orthostatic intolerance, urinary symptoms, hyperreflexia in the biceps and knee jerk, and decreased proprioception in both limbs were observed on neurological examinations[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene

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