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59 Possible Causes for Caused by Mutation in the KIAA0196 Gene (KIAA0196), Hyperreflexia, Spasticity - Hyperreflexia

Did you mean: Caused by Mutation in the KIAA0196 Gene, (KIAA0196), Hyperreflexia, Spasticity - Hyperreflexia

  • Autosomal Dominant Spastic Paraplegia Type 10

    ) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar[orpha.net] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] […] paraplegia type 10 Disease definition A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 8

    24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes[malacards.org] People with this condition may also have hyperreflexia, decreased ability to feel vibrations, muscular atrophy and decreased bladder control.[ivami.com] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes more Clinical features from OMIM: 607584 UMLS symptoms related to Spastic Paraplegia[malacards.org] […] drugs.Orpha Number: 100998Disease definitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[malacards.org] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com]

  • Autosomal Dominant Spastic Paraplegia Type 6

    […] usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder[orpha.net] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] […] limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus.[rarediseases.info.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 46

    Affiliated tissues include brain , and related phenotypes are nystagmus and hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in[malacards.org] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] The gait is spastic with weakness, hyperreflexia, and extensor plantar responses in the lower limbs. The upper limbs are variably involved and movements are dysmetric.[disorders.eyes.arizona.edu]

  • Autosomal Dominant Spastic Paraplegia Type 29

    24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia clonus difficulty standing walking on tiptoes[malacards.org] […] and phenotypes: Commonly - More than 50% cases Genetic anticipation Not very common - Between 30% and 50% cases Neonatal hyperbilirubinemia Commonly - More than 50% cases Hyperreflexia[mendelian.co] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com]

  • Spastic Paraplegia

    This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities.[ncbi.nlm.nih.gov] To our knowledge, it's the first frame delete mutation causing shift mutation of KIAA0196 gene, resulting in the earliest onset of SPG8 in the world.[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]

  • Autosomal Dominant Spastic Paraplegia Type 4

    Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia[ncbi.nlm.nih.gov] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com] People with this disorder may also have hyperreflexia, spasms ankles, lifting arch and decreased bladder control.[ivami.com]

  • Autosomal Recessive Spastic Paraplegia Type 18

    There is gross spasticity, hyperreflexia and extensor plantar response. In severe cases, the child is unable to sit unsupported and is certainly unable to walk.[patient.info] People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder[ghr.nlm.nih.gov] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com]

  • Autosomal Recessive Spastic Paraplegia Type 7

    , hyperreflexia, lower-limb weakness and decreased vibration sensation 37 yrs, 22 – 60 yrs AD Uncomplicated KIAA0196 (SPG8) DNA Sequencing 25 – 42 yrs AR Uncomplicated/ Paraplegin[1pdf.net] People with this form of spastic paraplegia may also have hyperreflexia in the arms, dysarthria, dysphagia, nystagmus, mild hearing loss, scoliosis, foot arch elevation, sensory[ivami.com] Only three missense mutations have been reported so far 10. Mutations in the KIAA0196 gene have been found to cause spastic paraplegia type 8 (SPG8) 11.[centogene.com]

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