Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.

NeurogeneticsSep 2, 2026 (epub)
Case ReportMedical GeneticsNeurologyOpen access

Juan Sebastián Sánchez León, Tais Luise Denicol, Carolina Matte Dagostini et al.

✦ AI-curated · Sources linked

Case in brief

A 58-year-old man presented with dysphagia and dysarthria at age 22, followed by progressive dystonic posturing affecting his upper limbs, face, neck, and lower limbs. Neurological examination revealed generalized dystonia with significant cranio-cervical and bulbar involvement. Genetic testing confirmed a variant in the THAP1 gene, establishing the diagnosis of DYT-THAP1 related dystonia.

What made this case unusual

The case highlights the prominence of cranio-cervical and bulbar symptoms in DYT-THAP1 related dystonia, which may aid in early diagnosis.

Diagnostic / clinical pearl

Clinicians should consider DYT-THAP1 in patients with generalized dystonia, especially when cranio-cervical and bulbar symptoms are prominent.

Why it matters

This case underscores the importance of detailed phenotypic characterization in diagnosing genetic forms of dystonia.

Source

PubMed · PMID 42684518Free full text on PubMed Central

Published in Neurogenetics. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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