Case report: Lingual dystonia symptoms treated with botulinum toxin in patients with THAP1 mutation.

ABSTRACT:

Background

THAP1 mutation dystonia is a known genetic cause of generalized dystonia. THAP1 mutation frequently presents with clinical features of bulbar dysfunction, including oromandibular and lingual dystonia. Patients complain of significant speech, chewing, and swallowing difficulties leading to major occupational and social disabilities. While bilateral globus pallidus internus deep brain stimulation (DBS) is powerful therapy for generalized dystonia and improves dystonia symptoms in the cervical and limb region, it may not improve speech despite multiple adjustments to the stimulation parameters. Treating lingual dystonia symptoms with oral medications is commonly unsatisfactory. Botulinum toxin injection, a potent therapy for focal forms of dystonia is currently underutilize

SUBMITTER: Wagle Shukla A 

PROVIDER: S-EPMC12306707 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature