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Case 6 - Spinal Muscular Atrophy (SMA) Type 1

from Disorders of the Anterior Horn Cell

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 three-month-old boy was seen at the outpatient clinic because of reduced spontaneous movements, which his parents had noticed for a few weeks. His legs lay to the side, he barely moved his hands, and his parents had to increasingly support his head when feeding him. For the past two weeks. drinking became slower. He also drank less and he choked daily. Coughing and crying had become weak compared with the first two months of life. Pregnancy, birth, and family history were unremarkable. He was the second child of unrelated parents and had one healthy sister who was three years old.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 85 - 87
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Baranello, G, Darras, BT, Day, JW, et al.; FIREFISH Working Group. Risdiplam in type 1 spinal muscular atrophy. N Engl J Med 2021;384(10):915923. doi: 10.1056/NEJMoa2009965. Epub 2021 Feb 24. PMID: 33626251.CrossRefGoogle ScholarPubMed
Finkel, RS, Mercuri, E, Darras, BT, et al.; ENDEAR Study Group. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 2017;377(18):17231732. doi: 10.1056/NEJMoa1702752. PMID: 29091570.CrossRefGoogle ScholarPubMed
Finkel, RS, Mercuri, E, Meyer, OH, et al.; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018;28(3):197207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23. PMID: 29305137.CrossRefGoogle ScholarPubMed
Kirschner, J, Butoianu, N, Goemans, N, et al. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur J Paediatr Neurol 2020;28:3843. doi: 10.1016/j.ejpn.2020.07.001. Epub 2020 Jul 9. PMID: 32763124; PMCID: PMC7347351.CrossRefGoogle ScholarPubMed
Mendell, JR, Al-Zaidy, S, Shell, R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med 2017;377(18):17131722. doi: 10.1056/NEJMoa1706198. PMID: 29091557.CrossRefGoogle ScholarPubMed
Mercuri, E, Finkel, RS, Muntoni, F, et al.; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28(2):103115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. PMID: 29290580.CrossRefGoogle ScholarPubMed

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