4. Poor Muscle Tone: A Subtle Yet Significant Marker
Niemann-Pick disease often results in hypotonia, or poor muscle tone. This is a decrease in the amount of resistance offered by muscles to passive movement. In practical terms, it means the muscles feel unusually soft or “floppy,” and the affected person may seem less strong or coordinated than usual.
In infants, hypotonia may manifest as difficulty holding up the head or achieving motor milestones such as rolling over, sitting, and walking. They may also seem excessively “floppy” when held. Older children and adults may have difficulty with tasks requiring strength or fine motor skills.
Hypotonia is more than just a physical symptom. It can significantly impact the affected individual’s life, hindering their independence and potentially affecting their self-esteem. It’s therefore crucial to provide supportive interventions, such as physical therapy, to maximize muscle strength and functional abilities. (4)
