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- Congenital_distal_spinal_muscular_atrophy abstract "Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic 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.".
- Congenital_distal_spinal_muscular_atrophy omim "600175".
- Congenital_distal_spinal_muscular_atrophy thumbnail Stuve-wiedemann3.JPG?width=300.
- Congenital_distal_spinal_muscular_atrophy wikiPageExternalLink spinal-muscular-atrophy-distal-congenital-nonprogressive.
- Congenital_distal_spinal_muscular_atrophy wikiPageID "36232268".
- Congenital_distal_spinal_muscular_atrophy wikiPageRevisionID "601974138".
- Congenital_distal_spinal_muscular_atrophy hasPhotoCollection Congenital_distal_spinal_muscular_atrophy.
- Congenital_distal_spinal_muscular_atrophy subject Category:Autosomal_dominant_disorders.
- Congenital_distal_spinal_muscular_atrophy subject Category:Neurogenetic_disorders.
- Congenital_distal_spinal_muscular_atrophy subject Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Congenital_distal_spinal_muscular_atrophy type Disease.
- Congenital_distal_spinal_muscular_atrophy type Situation.
- Congenital_distal_spinal_muscular_atrophy comment "Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic 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.".
- Congenital_distal_spinal_muscular_atrophy label "Congenital distal spinal muscular atrophy".
- Congenital_distal_spinal_muscular_atrophy sameAs m.0k2fmcv.
- Congenital_distal_spinal_muscular_atrophy sameAs Q5160420.
- Congenital_distal_spinal_muscular_atrophy sameAs Q5160420.
- Congenital_distal_spinal_muscular_atrophy wasDerivedFrom Congenital_distal_spinal_muscular_atrophy?oldid=601974138.
- Congenital_distal_spinal_muscular_atrophy depiction Stuve-wiedemann3.JPG.
- Congenital_distal_spinal_muscular_atrophy isPrimaryTopicOf Congenital_distal_spinal_muscular_atrophy.
