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GTR Home > Conditions/Phenotypes > Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Synonyms
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600). [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 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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