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- Spinal_muscular_atrophy_with_lower_extremity_predominance abstract "Spinal muscular atrophy with lower extremity predominance (SMA-LED) 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 SMA-LED.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.".
- Spinal_muscular_atrophy_with_lower_extremity_predominance omim "158600".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageID "35566999".
- Spinal_muscular_atrophy_with_lower_extremity_predominance wikiPageRevisionID "543487430".
- Spinal_muscular_atrophy_with_lower_extremity_predominance hasPhotoCollection Spinal_muscular_atrophy_with_lower_extremity_predominance.
- Spinal_muscular_atrophy_with_lower_extremity_predominance subject Category:Autosomal_dominant_disorders.
- Spinal_muscular_atrophy_with_lower_extremity_predominance subject Category:Neurogenetic_disorders.
- Spinal_muscular_atrophy_with_lower_extremity_predominance subject Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Abstraction100002137.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Attribute100024264.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Condition113920835.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Disease114070360.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type GeneticDisease114151139.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type GeneticDisordersBySystem.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type IllHealth114052046.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Illness114061805.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type PathologicalState114051917.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type PhysicalCondition114034177.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type State100024720.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Disease.
- Spinal_muscular_atrophy_with_lower_extremity_predominance type Situation.
- Spinal_muscular_atrophy_with_lower_extremity_predominance comment "Spinal muscular atrophy with lower extremity predominance (SMA-LED) 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.".
- Spinal_muscular_atrophy_with_lower_extremity_predominance label "Spinal muscular atrophy with lower extremity predominance".
- Spinal_muscular_atrophy_with_lower_extremity_predominance sameAs m.0j9kdd8.
- Spinal_muscular_atrophy_with_lower_extremity_predominance sameAs Q7577467.
- Spinal_muscular_atrophy_with_lower_extremity_predominance sameAs Q7577467.
- Spinal_muscular_atrophy_with_lower_extremity_predominance sameAs Spinal_muscular_atrophy_with_lower_extremity_predominance.
- Spinal_muscular_atrophy_with_lower_extremity_predominance wasDerivedFrom Spinal_muscular_atrophy_with_lower_extremity_predominance?oldid=543487430.
- Spinal_muscular_atrophy_with_lower_extremity_predominance isPrimaryTopicOf Spinal_muscular_atrophy_with_lower_extremity_predominance.