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GTR Home > Conditions/Phenotypes > Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant

Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant

Synonyms
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant

Summary

SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by Storbeck et al., 2017) For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600). [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SMALED2, SMALED2A, SMALED2B, bA526D8.1, BICD2
    Summary: BICD cargo adaptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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