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Case 6 - Spinal Muscular Atrophy (SMA) Type 1
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

Print publication:

19 December 2024, pp 85-87
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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.