Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I

    Authors

    R. S. Finkel

    Comments

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    Abbreviated Journal Title

    Neuromusc. Disord.

    Keywords

    Spinal muscular atrophy type 1; Werdnig-Hoffmann disease; Compound motor; action potential; Biomarker; CHOP INTEND; NATURAL-HISTORY; NEWBORN; GENE; SMA; Clinical Neurology; Neurosciences

    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. (C) 2012 Elsevier B.V. All rights reserved.

    Journal Title

    Neuromuscular Disorders

    Volume

    23

    Issue/Number

    2

    Publication Date

    1-1-2013

    Document Type

    Article

    Language

    English

    First Page

    112

    Last Page

    115

    WOS Identifier

    WOS:000315542900002

    ISSN

    0960-8966

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