Category: Rare Genetic and Metabolic Diseases
Objective: We present a case of probable Belly Dance Dyskinesia (BDD) secondary to vitamin B12 deficiency.
Background: BDD is a rare movement disorder (considered a form of segmental myoclonus) consisting of involuntary contractions of abdominal muscles, resulting in repetitive, slow and painful movements. Few cases have been described, with different etiologies, including spinal lesions, metabolic pathologies, etc. The pathophysiology is not fully understood.
Method: A 83-year-old woman, with history of recurrent pulmonary embolism, was diagnosed with bipolar syndrome at 40 years old, in treatment with amisulpride for decades, developing pharmacological parkinsonism and tardive dyskinesia, stable for 15 years. She developed semi-continuous abdominal contractions, maintained day and night, suggestive of BDD (videographic record), progressively worsening.
Results: EEG, Cranial and spinal neuroimaging were normal. Blood analysis showed severe B12 vitamin deficiency and hyperhomocysteinemia. Genetical study showed homozygous 677CT mutation in the Methylene-TetraHydrofolate-Reductase(MTHFR) gene. After vitamin supplementation, we observed significant improvement of BDD.
Conclusion: MTHFR-mutations produces hyperhomocysteinemia, B-group vitamins deficiency and increased risk of thromboembolic pathology. B12 deficiency can produce diverse neurological manifestations, BDD have been reported in only two cases.
In this case, BDD appeared in the context of B12 deficiency and presented a parallel course to the management of this condition, so we propose that BDD could be secondary to vitamin deficiency and hyperhomocysteinemia. Pharmacological etiology was also considered, but BDD secondary to amisulpride has never been reported before.
In the presence of BDD, a comprehensive study should be carried out, and B12 deficiency should also be considered, as a potentially reversible cause.
References: -Albabour et al. Recurrent Belly Dancer’s Dyskinesia with Pregnancy. Journal of Movement Disorders, 2019
-Ebru Apaydin Dogan et al. Spinal myoclonus associated with vitamin B12 deficiency. Clinical Neurology and Neurosurgery. July/2007
-Çelik et al. Involuntary movements associated with vitamin B12 deficiency. Parkinsonism and Related Disorders 2003
-Keon Wong et al. Belly dancer syndrome induced by salbutamol. BMJ Case reports 2021
To cite this abstract in AMA style:
D. López Domínguez, B. Solano Vila, A. Cots Foraster. Belly Dance Dyskinesia, a manifestation of B12 deficiency and hyperhomocysteinuria in MTHFR gene mutation. Videographic record of a case. [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/belly-dance-dyskinesia-a-manifestation-of-b12-deficiency-and-hyperhomocysteinuria-in-mthfr-gene-mutation-videographic-record-of-a-case/. Accessed November 21, 2024.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/belly-dance-dyskinesia-a-manifestation-of-b12-deficiency-and-hyperhomocysteinuria-in-mthfr-gene-mutation-videographic-record-of-a-case/