Treatment of Glycogen Storage Disease Type IV in Neonates with Congenital Hypotonia and Arthrogryposis

The severe neuromuscular form of GSD type IV can present at birth with a combination of profound hypotonia, joint contractures, and immediate respiratory compromise — a high-acuity neonatal scenario that demands rapid, protocol-guided management.

Clinical Scenario

Affected infants are born with congenital hypotonia, often accompanied by contractures (arthrogryposis) and respiratory failure requiring immediate mechanical ventilation.

Congenital hypotonia Arthrogryposis Respiratory failure Neonatal onset

Treatment Approach (Overview)

Management of this presentation is supportive in nature, centred on critical care intervention — most notably respiratory support. The complete regimen, including the specific components and sequencing of care, is detailed in the full protocol.

Full regimen, decision algorithm, and clinical criteria are available via the protocol link below.

Instant Access to Structured Evidence-Based Regimens

References

Affected infants are born with congenital hypotonia, often accompanied by contractures (arthrogryposis) and respiratory failure requiring immediate mechanical ventilation.

The care of infants with the severe neuromuscular form of GSD IV has been supportive to date, primarily focusing on mechanical ventilation and other critical care interventions.

DOI: 10.1016/j.ymgme.2023.107525

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