title: Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I.
abstract: A term infant, at familial risk for spinal muscular atrophy (SMA), had the diagnosis genetically confirmed on day 3 of life. Clinical evaluation, the CHOP INTEND motor scale and the CMAP amplitude were obtained on days 5 (pre-symptomatic), 20 (mildly weak), 34 (moderately weak) and 63 (severely weak). Palliative care was provided and he expired of an acute pulmonary infection on day 81. The CMAP amplitude and INTEND scores were initially in the normal range, then followed a corresponding decline to a nadir at day 34 and remained so at the 4th assessment. A log-transformed plot of CMAP amplitude from days 5-34 was linear. These data suggest that early motor neuron loss in SMA type I may be logarithmic and demonstrates that the INTEND motor scale closely follows the CMAP electrophysiological biomarker. This single case report supports the consideration that early intervention with a potential therapy is necessary, before the pool of functional motor neurons has plummeted. Further study of these parameters in pre-symptomatic infants with SMA type I will help guide the design of future intervention studies.
authors.affiliation: Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, FL 32827, USA. rfinkel@nemours.org
authors.forename: Richard S
authors.initials: RS
authors.lastname: Finkel
mesh_terms: D000200:Action Potentials / Q000502:physiology; D055724:Electrophysiological Phenomena / Q000502:physiology*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009043:Motor Activity / Q000502:physiology*; D010166:Palliative Care; D014897:Spinal Muscular Atrophies of Childhood / Q000503:physiopathology* / Q000628:therapy