Create issue ticket

50 Possible Causes for Hyperreflexia, Mutation in the WWOX Gene

  • Spinocerebellar Ataxia Type 14

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed.[orpha.net] All had at least mild hyperreflexia, with evidence of abnormal reflex spread in the upper and/or lower limbs in four of the six subjects.[jnnp.bmj.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Hyperreflexia MedGen UID: 57738 • Concept ID: C0151889 • Finding Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and[ncbi.nlm.nih.gov] Over the first year of life she was noted to have progressive global developmental delay, visual impairment, microcephaly, hypertonia, hyperreflexia, and seizures.[childnervoussystem.blogspot.com]

  • Spinocerebellar Ataxia Type 12

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal[ncbi.nlm.nih.gov] Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ataxia.[jhu.pure.elsevier.com]

  • Autosomal Dominant Spastic Paraplegia Type 17

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] […] drugs.Orpha Number: 100998Disease definitionA complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[malacards.org] […] spastic paraplegia type 17 Disease definition A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 10

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] […] 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] […] spastic paraplegia type 10 (SPG10) is 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 31

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Recessive Symptoms & Phenotypes for Spastic Paraplegia 24, Autosomal Recessive Symptoms via clinical synopsis from OMIM: 57 Neurologic Central Nervous System: spasticity hyperreflexia[malacards.org] Neurologic examination revealed hyperreflexia and spasticity in the lower extremities, weakness of hip flexion and ankle dorsiflexion, extensor plantar response, diminished[neurology.org]

  • Autosomal Dominant Spastic Paraplegia Type 8

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] 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] People with this condition may also have hyperreflexia, decreased ability to feel vibrations, muscular atrophy and decreased bladder control.[ivami.com]

  • Spinocerebellar Ataxia Type 13

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] : Clinical features Age of onset - 43-56 years Slow progression Gait and limb ataxia Dysarthria Occular dysmetria Slow saccades Decreased vibratory sense below the knees Hyperreflexia[emedicine.com] Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia.[uniprot.org]

  • Spinocerebellar Ataxia Type 10

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment.[ncbi.nlm.nih.gov] In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed.[orpha.net]

  • Autosomal Dominant Spastic Paraplegia Type 13

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] 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]

Further symptoms

Similar symptoms