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Case 7 - Spinal Muscular Atrophy (SMA) Type 3

from Disorders of the Anterior Horn Cell

Published online by Cambridge University Press:  29 November 2024

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 27-year-old woman consulted the neurology clinic because of progressive muscle weakness in legs and arms. She noticed increasing difficulty in walking, with a maximum walking time of 15 minutes when there was a slight upwards slope, climbing stairs, and lifting heavy things. She had more and more frequent falls in which it felt like her legs suddenly could not bear her weight anymore. Once she fell, she wasn’t able to get up from the floor without help. At the time of referral, she also experienced problems rising from a sitting position. She also mentioned problems with repeated movements due to fatigability, for example, when she walked or was cleaning out the dishwasher.

In retrospect, she remembered that she had had a ‘typical’ walk from the age of five and had never been able to run. A subtle tremor of her fingers was already present in kindergarten. Her medical history was otherwise unremarkable. She had two healthy siblings.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 88 - 90
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

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
Mercuri, E, Darras, BT, Chiriboga, CA, et al.; CHERISH Study Group. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med 2018;378(7):625635. doi: 10.1056/NEJMoa1710504. PMID: 29443664.CrossRefGoogle ScholarPubMed
Oskoui, M, Day, JW, Deconinck, N, et al.; SUNFISH Working Group. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). J Neurol 2023;270(5):25312546. doi: 10.1007/s00415-023-11560-1. Epub 2023 Feb 3. Erratum in: J Neurol. 2023 Apr 18;: PMID: 36735057; PMCID: PMC9897618.CrossRefGoogle ScholarPubMed
Stam, M, Wijngaarde, CA, Bartels, B, et al. Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4. Brain Commun 2022;5(1):fcac324. doi: 10.1093/braincomms/fcac324. PMID: 36632180; PMCID: PMC9825780.CrossRefGoogle ScholarPubMed
Wijngaarde, CA, Stam, M, Otto, LAM, et al. Muscle strength and motor function in adolescents and adults with spinal muscular atrophy. Neurology 2020;95(14):e1988e1998. doi: 10.1212/WNL.0000000000010540. Epub 2020 Jul 30. PMID: 32732299.CrossRefGoogle ScholarPubMed

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