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19 Possible Causes for Brisk Lower Limb Reflexes, Dysdiadochokinesis, Mutation in the WWOX Gene

  • Autosomal Recessive Spinocerebellar Ataxia 8

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] […] hemisphere) Neocerebellum Connected with Pons and cortex through thalalmus Planning and initiation of movements Regulation of fine limb movements Limb ataxia: Dysmetria, Dysdiadochokinesis[slideshare.net] Motor system examination revealed mild asymmetric spasticity of the lower limbs. Power was normal. The reflexes were brisk with bilateral extensor plantar response.[jpgmonline.com]

  • Spinocerebellar Ataxia Type 12

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] MalaCards based summary : Spinocerebellar Ataxia 12, also known as sca12, is related to spinocerebellar ataxia 36 and aceruloplasminemia, and has symptoms including dysdiadochokinesis[malacards.org] Three individuals (II-4, II-5, and II-7) had brisk deep tendon reflexes in the lower limbs.[jamanetwork.com]

  • Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[ncbi.nlm.nih.gov] Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction Midline (Vermis; paleocerebellum)Truncal & gait ataxia Hemisphere (Neocerebellum)Limb ataxia: Dysmetria, Dysdiadochokinesis[neuromuscular.wustl.edu] EOCARR is characterized by dysarthria, gait ataxia, nystagmus, brisk tendon reflexes in the upper and lower limbs, absent ankle reflexes, and discrete or absent deep sensory[orpha.net]

  • Autosomal Recessive Spastic Paraplegia Type 48

    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] Gait was spastic–ataxic, and he had dysdiadochokinesis in both hands. Strength, coordination, and sensation were normal on bedside examination.[ng.neurology.org] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • 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] Developmental stagnation Generalized dystonia Relative macrocephaly Eye of the tiger anomaly of globus pallidus Prominent nose Sloping forehead Increased susceptibility to fractures Dysdiadochokinesis[mendelian.co] Showing of 24 80%-99% of people have these symptoms Brisk reflexes 0001348 Proximal muscle weakness in lower limbs 0008994 Spastic gait Spastic walk 0002064 30%-79% of people[rarediseases.info.nih.gov]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    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] Leukoencephalopathy Urinary urgency Spastic dysarthria Spastic ataxia Mild hearing impairment Ranula Scoliosis Retinal degeneration Progressive visual loss Inability to walk Dysdiadochokinesis[mendelian.co] The reflexes were brisk in the lower limbs with bilateral extensor plantar responses.[neurologyindia.com]

  • Autosomal Recessive Spinocerebellar Ataxia

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.medscape.com] Motor system examination revealed mild asymmetric spasticity of the lower limbs. Power was normal. The reflexes were brisk with bilateral extensor plantar response.[jpgmonline.com]

  • Spinocerebellar Ataxia Type 13

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] The neurologic examination showed markedly slow ocular saccades, dysarthria, upper and lower limb dysmetria, dysdiadochokinesis, and wide-based ataxic gait.[jamanetwork.com] Brisk deep tendon reflexes without spasticity were found in five patients, being confined to the lower limbs in two and to the upper limbs in two.[link.springer.com]

  • Autosomal Recessive Spastic Paraplegia Type 14

    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] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org] The main feature of the disease is progressive spasticity in the lower limbs due to pyramidal tract dysfunction.[en.wikipedia.org]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[cerebellumandataxias.biomedcentral.com] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.medscape.com] Motor system examination revealed mild asymmetric spasticity of the lower limbs. Power was normal. The reflexes were brisk with bilateral extensor plantar response.[jpgmonline.com]