Spinal muscular atrophy with lower extremity predominance 2A

Spinal muscular atrophy with lower extremity predominance 2A
Other namesLower extremity-predominant spinal muscular atrophy type 2A, SMALED2A
Autosomal dominant - en.svg
Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner.
SpecialtyNeurology
SymptomsMuscle weakness in legs
Usual onsetInfancy
DurationLifetime
CausesMutations in BICD2 gene
Diagnostic methodMolecular 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.

See also

References

  1. ^ a b c Online Mendelian Inheritance in Man (OMIM): 615290
  2. ^ 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.
Classification



Media files used on this page

Chromosome.svg
Author/Creator: File:Chromosome-upright.png Original version: Magnus Manske, this version with upright chromosome: User:Dietzel65Vector: derivative work Tryphon, Licence: CC-BY-SA-3.0
Scheme of a Chromosome. (1) Chromatid. One of the two identical parts of the chromosome after S phase. (2) Centromere. The point where the two chromatids touch, and where the microtubules attach. (3) Short (p) arm (4) Long (q) arm. In accordance with the display rules in Cytogenetics, the short arm is on top.
Autosomal dominant - en.svg
Author/Creator: Domaina, Licence: CC BY-SA 3.0
Autosomal dominant - genetics (english version)