Keyword Analysis & Research: spastic ataxia 5


Keyword Analysis

Keyword CPC PCC Volume Score Length of keyword
spastic ataxia 50.670.368631116
spastic1.520.43255727
ataxia0.810.93125436
50.130.5558431

Keyword Research: People who searched spastic ataxia 5 also searched

Keyword CPC PCC Volume Score
spastic ataxia 51.470.4966745

Search Results related to spastic ataxia 5 on Search Engine

  • Spastic ataxia 5 - NIH Genetic Testing Registry (GTR) - NCBI

    nih.gov

    https://www.ncbi.nlm.nih.gov/gtr/conditions/C3280977/

    Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). [from OMIM]

    DA: 84 PA: 25 MOZ Rank: 35

  • OMIM Entry - # 614487 - SPASTIC ATAXIA 5, …

    omim.org

    https://www.omim.org/entry/614487

    Aug 10, 2020 · Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011 ). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 ( 108600 ).

    DA: 99 PA: 76 MOZ Rank: 33

  • Spastic Ataxia 5 Autosomal Recessive SPAX5 symptoms & causes

    fdna.health

    https://fdna.health/syndromes/spastic-ataxia-5-autosomal-recessive-spax5

    Spastic Ataxia 5, Autosomal Recessive; SPAX5 is a rare disease. It is also known as SPAX5. It is also known as SPAX5. Two brothers born to cousin parents were reported by Pierson et al., (2011) with normal early development (in one) then progressive spasticity, progressive myoclonus, peripheral weakness and wasting, ataxia, oculomotor apraxia but normal cognition.

    DA: 76 PA: 39 MOZ Rank: 59

  • Pharos : Disease Details - spastic ataxia 5

    nih.gov

    https://pharos.nih.gov/diseases/spastic%20ataxia%205

    A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.

    DA: 79 PA: 64 MOZ Rank: 11

  • SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5

    mendelian.co

    https://www.mendelian.co/diseases/spastic-ataxia-5-autosomal-recessive-spax5

    Early-onset Spastic Ataxia-myoclonic Epilepsy-neuropathy Syndrome Is also known as autosomal recessive spastic ataxia type 5, afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome, spax5. Researches and researchers Currently, we don't have any information about doctors, researches or researchers related to this disease.

    DA: 75 PA: 42 MOZ Rank: 10

  • Spastic ataxias - PubMed

    nih.gov

    https://pubmed.ncbi.nlm.nih.gov/29891058/

    The presence of spasticity and pyramidal features is a hallmark of some of hereditary ataxias, such as autosomal-recessive spastic ataxia of Charlevoix-Saguenay, other primary spastic ataxias, Friedreich ataxia, or ataxia with isolated vitamin E deficiency. Certain spastic paraplegias, such as spast …

    DA: 94 PA: 28 MOZ Rank: 42

  • A Diagnostic Approach to Spastic ataxia Syndromes

    nih.gov

    https://pubmed.ncbi.nlm.nih.gov/34782953/

    Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often …

    DA: 6 PA: 63 MOZ Rank: 65