spinal muscular atrophy with lower extremity predominant 2A

Term ID

DOID:0070349

Synonyms

• spinal muscular atrophy with lower extremity predominance 2A

Definition

A spinal muscular atrophy with lower extremity predominance that is 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 and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. https://pubmed.ncbi.nlm.nih.gov/23664120/

References

• OMIM:615290

Ontology

Human Disease   ( DOID:0070349 )