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14 Possible Causes for Caused by Mutation in the KIAA0196 Gene (KIAA0196), Lower Limb Vibratory Sense Decreased, Spasticity - Hyperreflexia

Did you mean: Caused by Mutation in the KIAA0196 Gene, (KIAA0196), Lower Limb Vibratory Sense Decreased, 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] limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower[rarediseases.info.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 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] 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] 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] limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower[rarediseases.info.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 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] limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower[rarediseases.info.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 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] sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166[rarediseases.info.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] Clinical features of the disease include lower limb spasticity and weakness, spastic ataxic gait, hyperreflexia, extensor plantar responses, pyramidal signs, decreased vibratory[link.springer.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 13

    Hereditary spastic paraplegia 8 (SPG8) is a pure hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of the lower limbs (i.e., hyperreflexia[ncbi.nlm.nih.gov] 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] 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 36

    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] 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 essential clinical findings are slowly progressive and often include severe spasticity, hyperreflexia, and weakness in a pyramidal distribution, noticeably in both lower[emedicine.medscape.com]

  • Autosomal Dominant Spastic Paraplegia Type 19

    […] paraplegia 8 is a neurologic disorder characterized by severe lower limb spasticity and weakness.[cags.org.ae] 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] […] and hyperreflexia, and bilateral extensor plantar response.[ajnr.org]

  • Autosomal Dominant Spastic Paraplegia Type 12

    OMIM : 58 Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties[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] Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished[neurology.org]

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