About: Congenital distal spinal muscular atrophy

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Congenital distal spinal muscular atrophy Goto Sponge NotDistinct Permalink

An Entity of Type : yago:State100024720, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)
QRcode icon

http://dbpedia.demo.openlinksw.com/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FCongenital_distal_spinal_muscular_atrophy&invfp=IFP_OFF&sas=SAME_AS_OFF

Congenital distal spinal muscular atrophy is a hereditary condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the TRPV4 gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatNeurogeneticDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720
rdfs:label	Congenital distal spinal muscular atrophy (en)
rdfs:comment	Congenital distal spinal muscular atrophy is a hereditary condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the TRPV4 gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved. (en)
foaf:depiction
dcterms:subject	Neurogenetic disorders Systemic atrophies primarily affecting the central nervous system Autosomal dominant disorders
Wikipage page ID	36232268 (xsd:integer)
Wikipage revision ID	1117786808 (xsd:integer)
Link from a Wikipage to another Wikipage	Pulmonary alveolus Pulmonary function testing Scoliosis Electromyography Endothelium Mutation Nerve conduction study Neurogenetic disorders Creatine kinase Systemic atrophies primarily affecting the central nervous system Genetic heterogeneity Neck Vocal cord paresis Muscle biopsy Contracture TRPV4 Platyspondyly Ankyrin repeat Anterior horn of spinal cord Magnetic resonance imaging Denervation Club foot Mechanosensation Autosomal dominant Tryptophan Alpha helix Amino acid Anatomical terms of location Cysteine Cell membrane Histidine Atrophy Arginine Arthrogryposis Autosomal dominant disorders Heredity Missense mutation C-terminus Phenotype Physical therapy Fibrillation Occupational therapy X-ray Chromosome 12 (human) Pes cavus Spinal muscular atrophies Lumbar N-terminus Orthotics Nerve ending dbr:Osmosensory
Link from a Wikipage to an external page	http://www.ctgt.net/find-a-test/tests/item/all-tests/spinal-muscular-atrophy-distal-congenital-nonprogressive/
sameAs	Congenital distal spinal muscular atrophy Congenital distal spinal muscular atrophy Congenital distal spinal muscular atrophy Congenital distal spinal muscular atrophy
dbp:wikiPageUsesTemplate	dbt:About dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:Medcn dbt:CNS_diseases_of_the_nervous_system
thumbnail	wiki-commons:Special:FilePath/Stuve-wiedemann3.jpg?width=300
caption	Radiograph showing dysplasia in lower limbs (en)
field	pediatrics, medical genetics (en)
synonyms	congenital dSMA (en)
has abstract	Congenital distal spinal muscular atrophy is a hereditary condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the TRPV4 gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved. (en)
gold:hypernym	Condition
prov:wasDerivedFrom	wikipedia-en:Congenital_distal_spinal_muscular_atrophy?oldid=1117786808&ns=0

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 53 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software