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autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014121:  autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
GARD:0013222: 
Orphanet:363454: 
UMLS:C3809049: