Objective: The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by Congenital Disorders of Glycosylation (CDG) and to characterize phenomenology based on CDG subtypes.

Background: CDG represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multi-systemic diseases mainly affecting the central nervous system.

Method: Subjects were identified from a cohort of patients with CDG who were referred to the University Hospital of Catania, Italy. Based on clinical description of abnormal involuntary movements, patients were evaluated by neurologists with expertise in movement disorders. Patients were examined and videotaped. Videos were reviewed by a panel of experts and a final consensus of phenomenology was obtained.

Results: A variety of hyperkinetic movement disorders was detected in eight unrelated CDG patients. In patients with phosphomannomutase 2 CDG, the principal movement disorders included dystonia and choreo-athetosis. In patients affected by other CDG types, the movement disorders ranged from pure generalized chorea to mixed movement disorders including dystonia and complex stereotypies.

Conclusion: Hyperkinetic movement disorder is a key clinical feature in patients with CDG. CDG should be considered in the differential diagnosis of childhood-onset dyskinesia, especially when associated with ataxia, developmental delay, intellectual disability, autism, or seizure disorder.

References: [1] Jaeken J, Péanne R. What is new in CDG? J Inherit Metab Dis 2017; 40: 569-586. [2] Péanne R, de Lonlay P, Foulquier F, et al. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet 2018; 61: 643-663. [3] Barone R, Carrozzi M, Parini R, et al. A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J Neurol 2015; 262: 154-164. [4] Barone R, Fiumara A, Jaeken J. Congenital disorders of glycosylation with emphasis on cerebellar involvement. Semin Neurol 2014; 34: 357-366. [5] Sturiale L, Barone R, Garozzo D. The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation. J Inherit Metab Dis 2011; 34: 891-899.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/hyperkinetic-movement-disorders-in-congenital-disorders-of-glycosylation/