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Statements

Subject Item
dbr:BICD2
dbo:wikiPageWikiLink
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_2A
Subject Item
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Subject Item
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rdf:type
owl:Thing wikidata:Q12136 dbo:Disease
rdfs:label
Spinal muscular atrophy with lower extremity predominance 2A
rdfs:comment
Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs. The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity. Sensation, swallowing and cognitive development are not affected. The disorder is slowly progressive throughout the lifetime. The disease is caused by a mutation in the BICD2 gene and is passed on in an autosomal dominant manner. There is no known cure for SMALED2A.
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dbp:diagnosis
Molecular test
dbp:onset
Infancy
dbp:symptoms
Muscle weakness in legs
dbp:caption
Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner.
dbp:causes
Mutations in BICD2 gene
dbp:duration
Lifetime
dbp:field
Neurology
dbp:synonyms
Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A
dbo:abstract
Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs. The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity. Sensation, swallowing and cognitive development are not affected. The disorder is slowly progressive throughout the lifetime. The disease is caused by a mutation in the BICD2 gene and is passed on in an autosomal dominant manner. There is no known cure for SMALED2A.
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