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- X-linked_spinal_muscular_atrophy_type_2 abstract "X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in a X-linked recessive manner by carrier mothers to affected sons.Affected babies have general muscle weakness, weak cry and floppy limbs; consequently, the condition is usually apparent at or even before birth. Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a different genetic defect and only genetic testing can correctly identify the disease.The disorder is usually fatal in infancy or early childhood due to progressive respiratory failure, although survival into teenage years have been reported. As with many genetic disorders, there is no known cure to SMAX2. Appropriate palliative care may be able to increase quality of life and extend lifespan.".
- X-linked_spinal_muscular_atrophy_type_2 omim "301830".
- X-linked_spinal_muscular_atrophy_type_2 wikiPageExternalLink NBK2594.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageID "23056116".
- X-linked_spinal_muscular_atrophy_type_2 wikiPageLength "5113".
- X-linked_spinal_muscular_atrophy_type_2 wikiPageOutDegree "18".
- X-linked_spinal_muscular_atrophy_type_2 wikiPageRevisionID "679544053".
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Anterior_grey_column.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Arthrogryposis.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Atrophy.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Category:Motor_neurone_disease.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Category:X-linked_recessive_disorders.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Gene.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Genetic_disorder.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Genetic_testing.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Motor_neuron.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Mutation.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Palliative_care.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Respiratory_failure.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Spinal_muscular_atrophies.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink Spinal_muscular_atrophy.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink UBA1.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLink X-linked_recessive_inheritance.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageWikiLinkText "X-linked spinal muscular atrophy type 2".
- X-linked_spinal_muscular_atrophy_type_2 name "X-linked spinal muscular atrophy type 2".
- X-linked_spinal_muscular_atrophy_type_2 omim "301830".
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:About.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:CNS_diseases_of_the_nervous_system.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:Cite_journal.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:Disorders_of_translation_and_posttranslational_modification.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:Genetic-disorder-stub.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:Infobox_disease.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:Reflist.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:URL.
- X-linked_spinal_muscular_atrophy_type_2 wikiPageUsesTemplate Template:X-linked_disorders.
- X-linked_spinal_muscular_atrophy_type_2 subject Category:Motor_neurone_disease.
- X-linked_spinal_muscular_atrophy_type_2 subject Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- X-linked_spinal_muscular_atrophy_type_2 subject Category:X-linked_recessive_disorders.
- X-linked_spinal_muscular_atrophy_type_2 hypernym Disorder.
- X-linked_spinal_muscular_atrophy_type_2 type Disease.
- X-linked_spinal_muscular_atrophy_type_2 type Disorder.
- X-linked_spinal_muscular_atrophy_type_2 type Thing.
- X-linked_spinal_muscular_atrophy_type_2 type Q12136.
- X-linked_spinal_muscular_atrophy_type_2 comment "X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy).".
- X-linked_spinal_muscular_atrophy_type_2 label "X-linked spinal muscular atrophy type 2".
- X-linked_spinal_muscular_atrophy_type_2 sameAs Q8041562.
- X-linked_spinal_muscular_atrophy_type_2 sameAs m.064l91x.
- X-linked_spinal_muscular_atrophy_type_2 sameAs Q8041562.
- X-linked_spinal_muscular_atrophy_type_2 wasDerivedFrom X-linked_spinal_muscular_atrophy_type_2?oldid=679544053.
- X-linked_spinal_muscular_atrophy_type_2 isPrimaryTopicOf X-linked_spinal_muscular_atrophy_type_2.
- X-linked_spinal_muscular_atrophy_type_2 name "X-linked spinal muscular atrophy type 2".