Growing up with spinal muscular atrophy with respiratory distress (SMARD1)

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited neuromuscular disorder caused by IGHMBP2 gene mutations.
• SMARD1 typically presents in infancy with progressive weakness and respiratory distress due to diaphragmatic dysfunction.
• Limited data exists on the long-term phenotype of SMARD1 in adulthood.

Observation:

• Clinical heterogeneity is noted in childhood SMARD1, but adult phenotypes are less documented.
• This report details a 21-year-old female with genetically confirmed SMARD1.

Findings:

• The patient exhibits stable muscle weakness and normal cognition.
• She maintains a socially integrated lifestyle, requiring only overnight mechanical ventilation.

Implications:

• This case expands the understanding of SMARD1 clinical variability into adulthood.
• It suggests a potentially more favorable long-term prognosis for some individuals with SMARD1.