spinal muscular atrophy with lower extremity predominant

Term ID

DOID:0070348

Synonyms

spinal muscular atrophy with lower extremity predominance

Definition

A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance

References

OMIM:PS158600

Ontology

Human Disease ( DOID:0070348 )

Relationships

is a type of: autosomal dominant disease spinal muscular atrophy

autosomal dominant disease spinal muscular atrophy Show first 5 Terms
has subtype: spinal muscular atrophy with lower extremity predominant 1 spinal muscular atrophy with lower extremity predominant 2A spinal muscular atrophy with lower extremity predominant 2B

spinal muscular atrophy with lower extremity predominant 1 spinal muscular atrophy with lower extremity predominant 2A spinal muscular atrophy with lower extremity predominant 2B Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations