Objective: To describe a unique case of multifocal dystonia in a young adult with classic galactosemia, emphasizing clinical presentation, progression, and management.

Background: Classic galactosemia is a rare autosomal recessive disorder caused by galactose-1-phosphate uridyltransferase deficiency, leading to metabolite accumulation. Despite early dietary management with a lactose-free diet, long-term complications, including movement disorders such as tremor, ataxia, and dystonia, may still arise.

Method: A detailed history, neurological examination, and movement disorder assessment were performed on a 21-year-old right-handed female galactosemia at six days old, primary ovarian failure, and mild intellectual disability, presented with bilateral upper extremity tremors.

Results: She observed tremors in second grade, affecting her handwriting, which worsened through adolescence and now significantly impacts her work as an architecture student. She struggles with drawing and carrying objects. Occasional leg tremors contribute to unsteadiness, though she has never fallen. She instinctively holds railings when descending stairs. Family history reveals both parents are galactosemia carriers, and her father and paternal grandfather have mild tremors. Neurological examination showed bilateral jerky dystonic tremors with posturing and overflow, worsening with action and finger-to-nose testing. Mirror dystonia of the right hand was noted while writing with the left, predominantly affecting the thumb and index finger. Gait was narrow-based with right leg dystonia during turning. Walking backward was normal, but dystonia was more pronounced when descending stairs. Scan the QR code for exam findings. She was diagnosed with multifocal dystonia secondary to galactosemia, including right-hand dystonia and down-the stairs dystonia. Treatment included botulinum toxin injections targeting the Flexor digitorum superficialis and Flexor pollicis longus, with significant improvement.

Conclusion: This case underscores the potential for multifocal dystonia in galactosemia despite early dietary management. A thorough clinical evaluation is crucial for identifying dystonic features such as action-induced tremors and gait abnormalities. Targeted therapies, including pharmacologic treatment and botox injections, can enhance function and quality of life. Recognizing dystonia as a manifestation of galactosemia is essential for early intervention and avoiding disability.

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References: Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia. https://doi.org/10.1002/jimd.12054

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-trembling-descent-down-the-stairs-dystonia-in-galactosemia/