Spinal muscular atrophy with lower extremity predominance 2A

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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.
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.[citation needed]

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. ↑ 1.0 1.1 1.2 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. Archived from the original on 2022-05-25. Retrieved 2021-09-27.
Classification



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