Objective: Objective. Diagnosing a disease with movement disorders is not always easy. It is even more difficult when there is a family history of hereditary diseases, which forces doctors to follow the wrong direction, sometimes for a long time.

Background: Background. A 37 y.o.  woman came to the hospital complaining of involuntary movements in her limbs, facial muscles, difficulty eating, speech and writing disorders. The first symptoms appeared at the age of 23. Her parents’ marriage is consanguineous, and her brother has a genetically confirmed Wilson’s disease.

Over the past 4 years, she has been examined by neurologists, repeatedly passed tests to determine ceruloplasmin and copper in the blood serum, copper in daily urine. MRI of the brain was repeatedly performed. During multiple ophthalmological examinations, the Kayser-Fleischer ring was not detected. Genetic testing of all mutations in the ATP7B and HTT genes and whole exome sequencing of the TRPV4 gene were inconclusive.

Nevertheless, the list of her diagnoses included: simple vocal and motor tics, differential diagnosis with conversion disorder; undifferentiated subcortical syndrome; Wilson’s disease, tremor-rigid form, focal epilepsy, neuroleptic syndrome; Wilson’s disease, probably a family form; hereditary neurodegenerative disease of the nervous system with the subcortical syndrome, dysarthria and cognitive deficit.

Method: Methods. During examination, there were revealed choreic hyperkinesis in the muscles of limbs, tongue, hypomimic face, occasionally – involuntary vocalization, dysarthria, mild bradykinesia, spastic muscle hypertonia, D<S, lack of coordination in tests. MMSE 28 points.

Results: Results. If chorea was present, a differential diagnostic search was performed. To confirm the diagnosis, microscopy of a peripheral blood smear was performed – erythrocytes with acanthocytosis were detected.

Based on anamnestic, clinical, instrumental and laboratory data, a clinical diagnosis was established: VPS13A disease. After 1 year, the diagnosis was genetically confirmed.

Conclusion: Conclusions. When there is a family history of hereditary disease, it is very difficult to ignore it and continue the diagnostic search, and in a patient with chorea, it must include Huntington’s disease, Huntington’s disease-like 2, Wilson’s disease and other rare adult-onset choreatic disorders, including neuroferritinopathy, aceruloplasminaemia, choreoacanthocytosis, and c9orf72-related disorders.

References: Peikert K, Dobson-Stone C, Rampoldi L, et al. VPS13A Disease. 2002 Jun 14 [Updated 2023 Mar 30]. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1387/

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MDS Abstracts - https://www.mdsabstracts.org/abstract/vps13a-disease-15-years-of-illness-awaiting-a-diagnosis/