Spinal muscular atrophy with lower extremity predominance 2B

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Spinal muscular atrophy with lower extremity predominance 2B
Other namesLower extremity-predominant spinal muscular atrophy type 2B, SMALED2B
Autosomal dominant - en.svg
Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner.
Specialty Neurology
Symptoms Generalised severe hypotonia at birth
Usual onsetInfancy
DurationLifetime
Causes Mutations in BICD2 gene
Diagnostic method Molecular test
Prognosis Life limiting

Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.

Contents

Indications

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. [1] [2] The disorder is frequently fatal in early childhood. [1]

Cause

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 to SMALED2B.

See also

References

  1. 1 2 3 Online Mendelian Inheritance in Man (OMIM): 618291
  2. ↑ 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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