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59 Possible Causes for Cerebellar Ataxia, Persistent Notochordal Canal

  • Myelocerebellar Disorder

    Ataxia-pancytopenia (AP) syndrome is seen as a cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failing and myeloid leukemia, connected with[hiv-proteases.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] disorders in cerebellar ataxia were not treatable.[en.wikipedia.org]

  • Congenital Non-Progressive Ataxia

    Since that time the syndrome of cerebellar ataxia, oligophrenia, and congenital cataracts has become known as the Marinesco-Sjogren syndrome.[doi.org] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with[orpha.net]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Applicable To Early-onset cerebellar ataxia with essential tremor Early-onset cerebellar ataxia with myoclonus [Hunt's ataxia] Early-onset cerebellar ataxia with retained[icd10data.com] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] The Blueprint Genetics ataxia panel covers classical genes associated with cerebellar ataxia, spinocerebellar ataxia and episodic ataxia.[blueprintgenetics.com]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    The authors describe six new late-onset Sandhoff cases demonstrating cerebellar ataxia or lower motor neuron (LMN) involvement combined with, mostly subclinical, neuropathy[ncbi.nlm.nih.gov] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] G11.1 Early-onset cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary spastic paraplegia G11.8 Other hereditary[icd10data.com]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar[se-atlas.de] :Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nature Genetics 15:62-69,1997.[bml.co.jp] .: Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation . Eur J Neurol 2004, 11 :817–824.[link.springer.com]

  • Familial Recurrent Peripheral Facial Palsy

    ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar[se-atlas.de] Screening ANO10 mutations in a Japanese cohorot of cerebellar ataxia.[tmd.ac.jp] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de]

  • Oculo-Palato-Cerebral Syndrome

    ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar[se-atlas.de] ataxia with intellectual disability 15 Cases 363494 Non-seminomatous germ cell tumor of testis 1.21 I * 90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency[azkurs.org] cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX[se-atlas.de]

  • Scapuloperoneal Spinal Muscular Atrophy

    This lies in almost the same bands formerly reported to be linked to SCA2 (spino-cerebellar ataxia 2) ( 14 , 17 ) ( Fig. 2 ).[academic.oup.com] notochordal canal syndrome Sacral agenesis syndrome Sacral meningocele-conotruncal heart defects syndrome Sacral regression syndrome SACRAL syndrome Sacrococcygeal teratoma[orpha.net] G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary[icd10data.com]

  • Optic Atrophy-Intellectual Disability Syndrome

    ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar[se-atlas.de] ataxia, and mental retardation , see Gillespie syndrome aniridia-cerebellar ataxia-intellectual disability , see Gillespie syndrome aniridia-cerebellar ataxia-mental deficiency[mygenomics.com] ataxia, Pure 6, 5 11, 14, 15, 16, 22 Spasticity 3 1, 7 Peripheral neuropathy 3, 4, 18, 25 1 Cortical disorders Dementia 17, DRPLA 2, 13, 19, 21 Psychosis DRPLA, 17 3, 27[neuromuscular.wustl.edu]

  • Limb-Girdle Muscular Dystrophy Type 2J

    ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar[se-atlas.de] notochordal canal syndrome Salla disease Salt-and-pepper syndrome Sandhoff disease Sandhoff disease, adult form Sandhoff disease, infantile form Sandhoff disease, juvenile[se-atlas.de] […] recessive cerebellar ataxia due to a DNA repair defect Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia-epilepsy-intellectual[se-atlas.de]

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