Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.
| 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. | |
| Specialty | Neurology |
| Symptoms | Generalised severe hypotonia at birth |
| Usual onset | Infancy |
| Duration | Lifetime |
| Causes | Mutations in BICD2 gene |
| Diagnostic method | Molecular test |
| Prognosis | Life limiting |
Indications
editDecreased 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.[1][2] The disorder is frequently fatal in early childhood.[1]
Cause
editThe 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 to SMALED2B.
See also
editReferences
edit- ^ a b c 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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