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Case 36 - Duchenne Muscular Dystrophy (DMD)

from Myopathies

Published online by Cambridge University Press:  aN Invalid Date NaN

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A boy was referred at the age of 2 years and 8 months because of frequent falls. This occurred several times per day and he had hurt his head on multiple occasions. Earlier major motor milestones had been delayed by several months. He had achieved rolling over at 9 months, crawling at 15, and independent walking just before his second birthday. Speech and language development were also behind as his first word had been heard around the age of 2 and he now mastered no more than ten. He was friendly in his behaviour and made good eye contact. Pregnancy and birth had been unremarkable. His mother was 5 months pregnant with her second child. Family history was unremarkable.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 173 - 175
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Birnkrant, DJ, Bushby, K, Bann, CM, et al.; DMD Care Considerations Working Group.Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018;17(3):251267. doi: 10.1016/S1474-4422(18)30024-3. Epub 2018 Feb 3. Erratum in: Lancet Neurol. 2018 Apr 4: PMID: 29395989; PMCID: PMC5869704.CrossRefGoogle ScholarPubMed
Birnkrant, DJ, Bushby, K, Bann, CM, et al.; DMD Care Considerations Working Group.Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 2018;17(4):347361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3. PMID: 29395990; PMCID: PMC5889091.CrossRefGoogle ScholarPubMed
Birnkrant, DJ, Bushby, K, Bann, CM, et al.; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol 2018;17(5):445455.CrossRefGoogle ScholarPubMed
Duan, D, Goemans, N, Takeda, S, Mercuri, E, Aartsma-Rus, A. Duchenne muscular dystrophy. Nat Rev Dis Primers 2021;7(1):13. doi: 10.1038/s41572-021-00248-3. PMID: 33602943.CrossRefGoogle ScholarPubMed

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