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]
^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. PMC6169820. PMID 30054298.
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spinal, muscular, atrophy, with, lower, extremity, predominance, smaled2b, rare, neuromuscular, disorder, characterised, generalised, muscle, weakness, other, nameslower, extremity, predominant, spinal, muscular, atrophy, type, smaled2b, inherited, autosomal, . 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 2BOther namesLower extremity predominant spinal muscular atrophy type 2B SMALED2BSpinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner SpecialtyNeurologySymptomsGeneralised severe hypotonia at birthUsual onsetInfancyDurationLifetimeCausesMutations in BICD2 geneDiagnostic methodMolecular testPrognosisLife limiting Contents 1 Indications 2 Cause 3 See also 4 ReferencesIndications 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 editSpinal muscular atrophies Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance 2AReferences 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 nbsp This genetic disorder article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Spinal muscular atrophy with lower extremity predominance 2B amp oldid 1143998171, wikipedia, wiki, book, books, library,
