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Author Notes:

Judith L. Fridovich-Keil, PhD, Correspondence to: Judith L Fridovich-Keil, Department of Human Genetics, Emory University School of Medicine, Rm. 325.2 Whitehead Bldg., 615 Michael St, Atlanta, GA 30322 TEL 404-727-3924, FAX 404-727-3949, Email: jfridov@emory.edu

Jessica MacWilliams contributed to the study design, collection and interpretation of data, and editing the final manuscript. Sneh Patel contributed to data analysis and editing the final manuscript. Grace Carlock contributed to study design, data collection, and editing the final manuscript. Sarah Vest contributed to data collection, data analysis, and editing the final manuscript. Nancy Potter contributed to the study design, collection and interpretation of data, and editing the final manuscript. Judith Fridovich-Keil contributed to the study design and collection and interpretation of results, coordinated the activities of all collaborators, and did most of the writing and editing of the manuscript.

We are extremely grateful to the many individuals and families who participated in this study, to Dr. Camilo Toro who created and maintains the Neuroglyphics program, and to the Galactosemia Foundation for enabling us to collect data at their 2018 conference. We also thank Ms. Martine Williams and Ms. Annie McNeill for helping with some of the data collection.

None of the authors have any conflicts of interest to disclose.


Research Funding:

This work was supported by National Institutes of Health grant R01 DK107900 (to JLFK).


  • Science & Technology
  • Life Sciences & Biomedicine
  • Endocrinology & Metabolism
  • Genetics & Heredity
  • Medicine, Research & Experimental
  • Research & Experimental Medicine
  • Archimedes spiral
  • galactosemia
  • hand fine motor control
  • modifiers
  • neuroglyphics

Hand fine motor control in classic galactosemia


Journal Title:



Volume 44, Number 4


, Pages 871-878

Type of Work:

Article | Post-print: After Peer Review


Classic galactosemia (CG) is a rare inborn error of metabolism that results from profound deficiency of galactose-1-P uridylyltransferase (GALT). Despite early detection and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to experience a broad range of complications that can include motor difficulties. The goal of this study was to characterize hand fine motor control deficit among children and adults with classic galactosemia (CG). Specifically, we used Neuroglyphics software to collect digital Archimedes spiral drawings on a touch screen from 57 volunteers with CG (cases) and 80 controls. Hand fine motor control was scored as root mean square (RMS) of spirals drawn relative to an idealized template. Presence of tremor was defined as a peak in periodicity of changes in drawing speed or direction in the 4-8 Hz range. We observed a highly significant difference (P <.001) in RMS scores between cases and controls, with almost 51% of cases showing at least 1 of 4 spirals scoring outside the 95th percentile for controls. The corresponding prevalence for controls was 10%. Similarly, more than 35% of cases, and almost 14% of controls, showed at least 1 of 4 spirals with a tremor amplitude above the 95th % cutoff for controls. Our results both confirm and extend what is known about hand fine motor control deficit among children and adults with CG and establish digital assessment as a useful approach to quantify this outcome.
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