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Case 1 - Amyotrophic Lateral Sclerosis (ALS)
from Disorders of the Anterior Horn Cell
Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
Book:

Neuromuscular Disease

Published online:

29 November 2024

Print publication:

19 December 2024, pp 71-76
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Summary

While working is his garden, a 59-year-old man noticed pain in his neck and shoulders. He had some difficulty holding his head in an upright position and rising from a squat. The referring neurologist had performed an MRI scan of the cervical spine, which was normal. As his CK activity was moderately elevated and the EMG showed fibrillation potentials, myositis was suggested. On referral – six months after disease onset – he also mentioned difficulty climbing stairs. When walking, he experienced cramps in the calves. In recent weeks, he had developed a slurred speech and had problems fastening buttons. He had lost 10 kg (12% of his original weight). Pseudobulbar affect (forced laughter, yawning, or crying) was not mentioned at the time.