Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

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
Summary

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.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Neuromuscular disorders : NMD·2026
Same author

Respiratory management in spinal muscular atrophy: development of a global outcome measure.

Neuromuscular disorders : NMD·2025
Same author

Corrigendum to "Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review" [NMD, volume 49, article 105341].

Neuromuscular disorders : NMD·2025
Same author

Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review.

Neuromuscular disorders : NMD·2025
Same author

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Neuromuscular disorders : NMD·2025
Same author

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping.

Neuromuscular disorders : NMD·2023

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.

Related Experiment Videos

  • 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.