Heterogeneity in spinal muscular atrophy with respiratory distress type 1

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare genetic disorder.
• SMARD1 is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene.
• Typical SMARD1 onset is between 6 weeks and 6 months, presenting with respiratory and distal weakness.

Observation:

• This report details a male infant with genetically confirmed SMARD1.
• The infant presented within the first two weeks of life.
• Key symptoms included respiratory compromise and urinary retention.

Findings:

• The patient exhibited early-onset SMARD1, presenting within two weeks of birth.
• Urinary retention was a notable symptom, not previously reported in SMARD1.
• This case expands the known clinical heterogeneity of SMARD1.

Implications:

• Early-onset SMARD1 can manifest with unique symptoms like urinary retention.
• Recognizing this variability is crucial for timely diagnosis and management of SMARD1.
• Further research into IGHMBP2 mutations may uncover additional phenotypic variations.