How is a child diagnosed with MSS?
In most cases, the first signs of a problem is hypotonia (floppiness). The infant does not develop good head control and does not achieve motor milestones (rolling, sitting, standing, walking) at a typical age. Generally the child is referred by the pediatrician to a pediatric neurologist, developmental pediatrician, and/or geneticist. Tests often include extensive blood and urine tests, MRI (magnetic resonance imaging), nerve conduction studies, and in some cases, skin and muscle biopsies. By the age of one, small stature usually becomes more apparent. Cataracts appear in early childhood and can develop quickly. The child generally achieves good mobility with a walker or crutches, but independent walking is unlikely due to ataxia and muscle weakness. Other signs of cognitive delay likely appear (delays in speech and language, self-help, social skills, and academic skills).
