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22 Possible Causes for Dysdiadochokinesis, Hyperreflexia, Mutation in the WWOX Gene

  • 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] 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]

  • 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] Related phenotypes are hyperreflexia and cerebellar hypoplasia[malacards.org] Leukoencephalopathy Urinary urgency Spastic dysarthria Spastic ataxia Mild hearing impairment Ranula Scoliosis Retinal degeneration Progressive visual loss Inability to walk Dysdiadochokinesis[mendelian.co]

  • Autosomal Recessive Spinocerebellar Ataxia

    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.medscape.com] This deficit is most apparent in the execution of rapidly alternating movements, referred as dysdiadochokinesis by Babinski.[jpgmonline.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] The neurologic examination showed markedly slow ocular saccades, dysarthria, upper and lower limb dysmetria, dysdiadochokinesis, and wide-based ataxic gait.[jamanetwork.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] Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3.[omicsonline.org] People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control.[icdlist.com]

  • 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] […] coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia[rarediseases.info.nih.gov] 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]

  • 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] 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]

  • Autosomal Recessive Spastic Paraplegia Type 24

    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] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • Autosomal Recessive Spastic Paraplegia Type 32

    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] […] progressive peripheral neuropathy 60 Frequent (79-30%) 19 cerebral atrophy 33 HP:0002059 Symptoms via clinical synopsis from OMIM: 58 Neurologic Central Nervous System: hyperreflexia[malacards.org] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.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] Dysmetria with dysdiadochokinesis is often present and a fine intention tremor has been observed.[disorders.eyes.arizona.edu]

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