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.[1][2] Sensation, swallowing and cognitive development are not affected. The disorder is slowly progressive throughout the lifetime.[1]
The disease is caused by a mutation in the BICD2 gene and is passed on in an autosomal dominant manner.[1]
There is no known cure for SMALED2A.[citation needed]
See also
- Spinal muscular atrophies
- Spinal muscular atrophy with lower extremity predominance 1
- Spinal muscular atrophy with lower extremity predominance 2B
References
- ^ a b c 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. PMID 32056343. S2CID 211110838.