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Duchenne muscular dystrophy presenting with failure to thrive

R Rapisarda1, F Muntoni, P Gobbi

  • 1Department of Paediatrics, Hammersmith Hospital, London.

Archives of Disease in Childhood
|May 1, 1995
PubMed

Insights

Failure to thrive in infancy may indicate Duchenne muscular dystrophy, a genetic disorder. This condition can cause significant growth issues in early childhood, potentially leading to short stature later in life.

Area of Science:

  • Pediatric Neurology
  • Genetics
  • Developmental Biology

Background:

  • Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration.
  • While short stature is a known feature of DMD, early-onset growth failure is less recognized.
  • Understanding early signs of DMD is crucial for timely diagnosis and intervention.

Observation:

  • Three infants with Duchenne muscular dystrophy presented with failure to thrive.
  • Families reported poor growth and sought medical attention months before diagnosis.
  • Growth charts revealed weight loss and affected length growth, with normal head circumference.

Findings:

  • No other causes for failure to thrive were identified in these patients.
  • Failure to thrive in DMD, though previously described, is not widely understood.
  • The observed growth failure may represent an extreme manifestation of typical DMD growth patterns.

Implications:

  • Heightened awareness of failure to thrive as a potential early indicator of Duchenne muscular dystrophy is needed.
  • Early identification of DMD through growth monitoring can facilitate prompt management.
  • Further research into the mechanisms underlying growth disturbances in DMD is warranted.

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