Spinal muscular atrophy with lower extremity predominance 2A
| Spinal muscular atrophy with lower extremity predominance 2A | |
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| Other names: Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A | |
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| Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner. | |
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| Specialty | Neurology |
| Symptoms | Muscle weakness in legs |
| Usual onset | Infancy |
| Duration | Lifetime |
| 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.[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.
Lower extremity-predominant SMA (SMALED2) with mutations in BICD2. a) Hypotrophy of proximal and distal muscles of lower limbs b) scapular winging c) lumbal hyperlordosis
See also
References
- 1 2 3 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. Archived from the original on 2022-05-25. Retrieved 2021-09-27.
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