About: Spinal muscular atrophy with lower extremity predominance 1

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About: Spinal muscular atrophy with lower extremity predominance 1 Goto Sponge NotDistinct Permalink

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Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Spinal muscular atrophy with lower extremity predominance 1 (en)
rdfs:comment	Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1. (en)
foaf:depiction
dcterms:subject	Neurogenetic disorders Neuromuscular disorders Systemic atrophies primarily affecting the central nervous system Rare diseases Autosomal dominant disorders
Wikipage page ID	35566999 (xsd:integer)
Wikipage revision ID	1064595872 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation Neurogenetic disorders Inheritance Neuromuscular disorders Systemic atrophies primarily affecting the central nervous system Genetic disorder Gene Spinal muscular atrophy with lower extremity predominance 2A Spinal muscular atrophy with lower extremity predominance 2B Muscle atrophy Autosomal dominant DYNC1H1 Rare diseases Atrophy Autosomal dominant disorders Charcot–Marie–Tooth disease Spinal muscular atrophies
sameAs	Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance 1
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:CNS_diseases_of_the_nervous_system
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
diagnosis	Molecular test (en)
onset	Infancy (en)
symptoms	Progressive muscle atrophy in legs (en)
caption	Spinal muscular atrophy with lower extremity predominance is inherited in an autosomal dominant manner. (en)
causes	Mutation in DYNC1H1 gene (en)
field	Neurology (en)
synonyms	Lower extremity predominant spinal muscular atrophy type 1, SMALED1 (en)
has abstract	Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1. The condition was first described in a multi-generational family by Walter Timme in 1917. Its linkage to the DYNC1H1 gene was discovered in 2010 by M. B. Harms, et al., who also proposed the current name of the disorder. (en)
medical cause	Mutation DYNC1H1
symptoms	Muscle atrophy
prov:wasDerivedFrom	wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_1?oldid=1064595872&ns=0
page length (characters) of wiki page	4195 (xsd:nonNegativeInteger)
OMIM id	158600 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_1
is Link from a Wikipage to another Wikipage of	List of diseases (S) Charcot–Marie–Tooth disease classifications Spinal muscular atrophy with lower extremity predominance Spinal muscular atrophy with lower extremity predominance 2A Spinal muscular atrophy with lower extremity predominance 2B DYNC1H1 Spinal muscular atrophies SMALED1
is Wikipage redirect of	SMALED1
is Wikipage disambiguates of	Spinal muscular atrophy with lower extremity predominance
is foaf:primaryTopic of	wikipedia-en:Spinal_muscular_atrophy_with_lower_extremity_predominance_1

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