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313 Possible Causes for Dysdiadochokinesis, Mutation in the WWOX Gene, Upper Extremity Action Tremor

  • 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] CLINICAL CHARACTERISTICS: Spinocerebellar ataxia type 12 (SCA12) is characterized by onset of action tremor of the upper extremities in the fourth decade, slowly progressing[ncbi.nlm.nih.gov]

  • 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] Autonomic symptoms precede cerebellar signs (ataxia, dysmetria, nystagmus, and action tremors) and pyramidal abnormalities (spasticity and weakness of both upper and lower[jneurosci.org]

  • 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] 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]

    Missing: Upper Extremity Action Tremor
  • Multiple Sclerosis

    Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system and is one of the main causes of disability in young adults. Alemtuzumab is a humanized monoclonal anti CD52 antibody approved for active relapsing-remitting (RR) multiple sclerosis (MS) exerting its strong clinical efficacy[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene Upper Extremity Action Tremor
  • Spinocerebellar Ataxia Type 1

    Slow eye movements 0000514 Slurred speech 0001350 Staring gaze 0025401 Upgaze palsy 0025331 5%-29% of people have these symptoms Abnormality of masticatory muscle 0410011 Dysdiadochokinesis[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.com] […] dysmetria Position sense defects Spinocerebellar ataxia 36 [40] Clinical features Mean age of onset - Approximately 53 years Truncal ataxia Ataxic dysarthria Limb ataxia Dysdiadochokinesis[emedicine.com]

    Missing: Mutation in the WWOX Gene Upper Extremity Action Tremor
  • Huntington's Disease

    Although Huntington's disease has existed since at least the seventeenth century, and although several physicians provided earlier descriptions of hereditary chorea, Huntington's disease was not generally recognized until the classic description by George Huntington (1850–1916) in 1872. This paper – on the[…][oadoi.org]

    Missing: Mutation in the WWOX Gene Upper Extremity Action Tremor
  • Acute Disseminated Encephalomyelitis

    Classically, transverse myelitis and acute disseminated encephalomyelitis are considered central nervous system demyelinating conditions. In both conditions, the spinal cord is involved to varying degrees, and there is a variety of presentations, usually involving some degree of progressive paralysis of the upper[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene Upper Extremity Action Tremor
  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    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] Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant disorder characterized by action tremor of the upper extremities progressing to ataxia and other cerebellar[chginc.org] This deficit is most apparent in the execution of rapidly alternating movements, referred as dysdiadochokinesis by Babinski.[jpgmonline.com]

    Missing: Mutation in the WWOX Gene
  • 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] In males, spinocerebellar symptoms are apparent in childhood and can include delayed walking, predominantly truncal ataxia, dysmetria and dysdiadochokinesis.[orpha.net]

    Missing: Upper Extremity Action Tremor
  • Friedreich Ataxia

    Friedreich ataxia (FRDA) is an autosomal recessive ataxia resulting from mutations in the frataxin gene (FXN). Such mutations, usually expanded guanine-adenine-adenine (GAA) repeats, give rise to decreased levels of frataxin protein in both affected and unaffected tissues. The goal was to understand the[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene Upper Extremity Action Tremor