You are using an outdated browser. Please upgrade your browser to improve your experience.

autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities.
Mondo Term and Equivalent IDs
MONDO:0008026:  autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
MESH:C563560: 
Orphanet:209341: 
UMLS:C1834690: