Spinal muscular atrophy with lower extremity predominance 2B
|Spinal muscular atrophy with lower extremity predominance 2B|
|Other names||Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B|
|Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner.|
|Symptoms||Generalised severe hypotonia at birth|
|Causes||Mutations in BICD2 gene|
|Diagnostic method||Molecular test|
Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.
Decreased foetal movement is apparent already before birth. The child is born with a generalised muscle weakness (hypotonia) and contractures resembling arthrogryposis multiplex congenita, respiratory insufficiency, and sometimes facial deformations. The disorder is frequently fatal in early childhood.
- Spinal muscular atrophies
- Spinal muscular atrophy with lower extremity predominance 1
- Spinal muscular atrophy with lower extremity predominance 2A
- Online Mendelian Inheritance in Man (OMIM): 618291
- Koboldt, Daniel C.; Kastury, Rama D.; Waldrop, Megan A.; Kelly, Benjamin J.; Mosher, Theresa Mihalic; McLaughlin, Heather; Corsmeier, Don; Slaughter, Jonathan L.; Flanigan, Kevin M.; McBride, Kim L.; Mehta, Lakshmi (2018). "In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis". Cold Spring Harbor Molecular Case Studies. 4 (5): a003160. doi:10.1101/mcs.a003160. ISSN 2373-2865. PMC 6169820. PMID 30054298.
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Author/Creator: File:Chromosome-upright.png Original version: Magnus Manske, this version with upright chromosome: User:Dietzel65 Vector: 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.