spinal muscle atrophy with respiratory distress type 1 (SMARD1)

Genetics

• associated with defects in IGHMBP2

Clinical manifestations

• intrauterine growth retardation
• weak cry
• foot deformities
• early-onset respiratory failure due to diaphragmatic paralysis
• severe distal muscle weakness

More general terms

• spinal muscle atrophy with respiratory distress (SMARD)

Database

• OMIM: https://mirror.omim.org/entry/604320