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277 Possible Causes for Axial Dystonia, Mutation in the EIF2AK3 Gene, Onset of Renal Dysfunction in Early Childhood

  • Wolcott-Rallison Syndrome

    Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome.[en.wikipedia.org] Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent[ncbi.nlm.nih.gov] Diagnosis Initially, patients with neonatal or early-childhood onset diabetes are possible candidates for having Wolcott–Rallison syndrome. [1] The other symptoms include[wikiwand.com]

    Missing: Axial Dystonia
  • Progressive Supranuclear Palsy

    Set 2: tremor, bradykinesia, asymmetric onset, non-axial dystonia, response to levodopa.[doi.org] Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] Movements are slowed, muscles become rigid, and axial dystonia develops. Patients tend to fall backward.[msdmanuals.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Classic Progressive Supranuclear Palsy Syndrome

    dystonia Behavior changes: apathy, disinhibition, anxiety Frontal release signs, including grasp reflex and the applause sign May exhibit cross-over with other Tauopathies[webeye.ophth.uiowa.edu] Some cases of PSP are linked to a mutation or genetic variation in the gene MAPT, which helps to produce (codes for) the tau protein.[rarediseases.org] Over a period of 2 years, he progressed to complete vertical gaze palsy, axial dystonia, retrocollis, and generalized severe akinesia.[emedicine.medscape.com]

    Missing: Onset of Renal Dysfunction in Early Childhood
  • Spinocerebellar Ataxia Type 12

    dystonia 0002530 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells 0002120 Delusions 0000746 Depressivity Depression 0000716[rarediseases.info.nih.gov] […] myoclonus, dystonia, vibratory loss Late onset can be pure ataxia -- 19q13.4 Protein kinase C gamma type (PRKC) Spinocerebellar ataxia (SCA15/SCA 16) OMIM #606658 Pure ataxia[emedicine.medscape.com] In the first family reported, Yamashita et al 5 described axial myoclonus in some younger affected persons, while an extrapyramidal component (focal dystonia) was observed[jnnp.bmj.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Primary Torsion Dystonia

    […] parkinsonism syndrome Autosomal Recessive Progressive, generalised, early-onset dystonia with axial muscle involvement, oromandibular (sardonic smile), laryngeal dystonia[cmdg.org] dystonia (33 %), and in cervical dystonia secondary to stroke (20 %). 8. 9 Dystonia has also been associated with substance misuse (13 % of patients), especially in alcohol[ispub.com] […] and one arm, and often axial muscles.[orpha.net]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Dysequilibrium Syndrome

    Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-function mutations in the very low density lipoprotein receptor (VLDLR) gene represent the most common cause of[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Idiopathic Camptocormia

    Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation. Neurology 2003; 60: 1393–1394. Jankovic J.[annaly-nevrologii.com] dystonia and these should be ruled out.[boneandspine.com] Botulinum toxin treatment of lateral axial dystonia in Parkinsonism. Mov Disord. 2007;22(14):2097–2103. 30. Baik JS, Kim JY, Park JH, Han SW, Park JH, Lee MS.[dovepress.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Meige Syndrome

    dystonia advanced from Meige syndrome.[ncbi.nlm.nih.gov] […] writer's cramp and torticollis, or axial dystonia) In: Elridge R, Fahn S (eds) Advances in neurology, vol 14.[springerlink.com] Furthermore, the segmental dystonias were subdivided into regional categories: cranial, axial, brachial, and crural.[blepharospasm.org]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Spinocerebellar Ataxia Type 14

    , multifocal myoclonus and axial dystonia as predominant clinical features.[ncbi.nlm.nih.gov] Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia, axial myoclonus, facial myokymia, choreic movement of hands and[orpha.net] In the first family reported, Yamashita et al 5 described axial myoclonus in some younger affected persons, while an extrapyramidal component (focal dystonia) was observed[jnnp.bmj.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood
  • Pseudobulbar Palsy

    dystonia.[books.google.com] Movements are slowed, muscles become rigid, and axial dystonia develops. Patients tend to fall backward.[merckmanuals.com] Over a period of 2 years, he progressed to complete vertical gaze palsy, axial dystonia, retrocollis, and generalized severe akinesia.[emedicine.medscape.com]

    Missing: Mutation in the EIF2AK3 Gene Onset of Renal Dysfunction in Early Childhood