Spinal muscular atrophy with lower extremity predominance 2A
|Spinal muscular atrophy with lower extremity predominance 2A|
|Other names||Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A|
|Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner.|
|Symptoms||Muscle weakness in legs|
|Causes||Mutations in BICD2 gene|
|Diagnostic method||Molecular test|
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.
There is no known cure for SMALED2A.
- Spinal muscular atrophies
- Spinal muscular atrophy with lower extremity predominance 1
- Spinal muscular atrophy with lower extremity predominance 2B
- Online Mendelian Inheritance in Man (OMIM): 615290
- Frasquet, M.; Camacho, A.; Vílchez, R.; Argente‐Escrig, H.; Millet, E.; Vázquez‐Costa, J. F.; Silla, R.; Sánchez‐Monteagudo, A.; Vílchez, J. J.; Espinós, C.; Lupo, V. (2020). "Clinical spectrum of BICD2 mutations". European Journal of Neurology. 27 (7): 1327–1335. doi:10.1111/ene.14173. ISSN 1351-5101.