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Case 4 - Segmental Spinal Muscular Atrophy

from Disorders of the Anterior Horn Cell

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk ,
Marianne de Visser ,
Pieter A. van Doorn  and
Erik H. Niks
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

An 18-year-old man had noticed progressive painless weakness and a decrease in size of his left forearm and hand for about one year. He was not able to lift objects, and at the gym he had difficulty handling the dumbbells. He had noticed involuntary contractions not only of his forearm muscles, but also of his chest and once in his legs. Previous medical history and family history were unremarkable.

Keywords

limb muscle weaknessunilateralasymmetricfasciculationslower motor neuronmonomelic amyotrophyjuvenile muscular atrophy of distal upper extremityfocal muscular atrophyHirayama diseasesegmental spinal muscular atrophy
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 82 - 83
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Lay, S, Gudlavalleti, A, Sharma, S. Hirayama disease. In StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2023 Jan–. PMID: 29763088.Google Scholar

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