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15 Possible Causes for Dysdiadochokinesis, Mutation in the WWOX Gene, Small Hand

  • Early Infantile Epileptic Encephalopathy Type 2

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] […] hypoplasia Abnormal pyramidal sign Dysmetria Hirsutism Brain atrophy Heterotopia Intrauterine growth retardation Truncal ataxia Intellectual disability, progressive Lissencephaly Dysdiadochokinesis[mendelian.co] ]; Small hands; [Feet]; Small feet MUSCLE, SOFT TISSUE: Hypotonia NEUROLOGIC: [Central nervous system]; Seizures, infantile-onset; Hypsarrhythmia; Mental retardation, profound[genome.jp]

  • 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] […] held behind during morning school prayer hours. • Clumpsiness of hands present in the form of illegible handwriting but not small in size. 5. • No involuntary movements like[slideshare.net]

  • 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] On the other hand, the natural history of other gluten-related disorders, particularly GS, is still unclear.[doi.org]

  • Myelocerebellar Disorder

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] […] 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] hands and feet.[mendelian.co]

  • 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] […] amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings.[icdlist.com]

  • Autosomal Recessive Spastic Paraplegia Type 49

    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] Intestinal rupture; or Uterine rupture during pregnancy; or Presence or history of at least two of the following: Acrogeria (aged appearance to extremities, particularly hands[aetna.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] 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] Subsequently, motor neuropathy with areflexia appears, first in the legs (particularly ankle dorsiflexors) and progressing gradually to the arms (small hand muscles).[neuroweb.us]

  • 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] Dysmetria with dysdiadochokinesis is often present and a fine intention tremor has been observed.[disorders.eyes.arizona.edu] Subsequently, motor neuropathy with areflexia appears, first in the legs (particularly ankle dorsiflexors) and progressing gradually to the arms (small hand muscles).[neuroweb.us]

  • 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] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org] Nerve conduction studies were normal but the EMG showed fasciculations in the small muscles of the hand in IV-6A.[jnnp.bmj.com]

  • Autosomal Recessive Spastic Paraplegia Type 23

    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] Intestinal rupture; or Uterine rupture during pregnancy; or Presence or history of at least two of the following: Acrogeria (aged appearance to extremities, particularly hands[aetna.com]

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