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Axial truncal dystonia can present as either flexion or extension, often with a tendency toward lateral movement. Flexion dystonia is more common and may represent a clinical spectrum associated with parkinsonism. In contrast, extensor trunk dystonia is less frequent and exhibits a diverse range of causes. In this paper, we reviewed the literature on axial extensor trunk dystonia. We identified 11 studies involving 49 patients, of which only 10 had idiopathic trunk dystonia. Treatment with botulinum neurotoxin A (BoNT/A) emerged as the most effective therapy; however, many studies did not provide detailed descriptions of the treatment (4/11) and follow-up periods were not specified or short term (up to one-two years). We present four new, well-documented patients with the idiopathic form of extensor trunk dystonia who were treated with BoNT/A with moderate to significant effect according to Global Clinical Impression scale (GCI) and Burke-Fahn-Marsden (BFM) dystonia scale. These cases include long-term follow-up for three patients, all without any adverse events. While the diagnostic process and treatment can be challenging, we recommend using BoNT/A with adjusted doses tailored to the appropriate muscle groups as a first-line treatment.
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http://dx.doi.org/10.3390/toxins17080375 | DOI Listing |
Toxins (Basel)
July 2025
IRCCS Fondazione Don Carlo Gnocchi, Onlus, 20162 Milan, Italy.
Axial truncal dystonia can present as either flexion or extension, often with a tendency toward lateral movement. Flexion dystonia is more common and may represent a clinical spectrum associated with parkinsonism. In contrast, extensor trunk dystonia is less frequent and exhibits a diverse range of causes.
View Article and Find Full Text PDFClin Neurol Neurosurg
October 2025
Department of Neurology, Albany Medical Center, 43 New Scotland Ave. MC-70, Albany, NY 12208, USA. Electronic address:
We present a 67-year-old male with anti-IgLON5 disease with cervical and upper trunk dystonic spasms. Intermittent hallucinations, occurring both with infections and without a precipitant, and hand tremors were also present. The MRI of the brain was nonspecific.
View Article and Find Full Text PDFBrain Dev
August 2025
Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka, Japan.
Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) usually has a favorable gross motor prognosis, and involuntary movements that occur after AESD are transient, typically resolving spontaneously during the recovery phase.
Case Presentation: Three male patients without any underlying disease or history of perinatal insults developed AESD between 10 and 12 months of age. Case 1 remained choreoathetosis, dystonia, and ataxia, with the choreoathetosis resolving six years after onset.
eNeurologicalSci
September 2025
Omagari Kosei Medical Center, Department of Neurology, Japan.
FXTAS (Fragile X-associated tremor/ataxia syndrome) is characterized by typical clinical features, including tremor, cerebellar ataxia, parkinsonism, and the middle cerebellar peduncle (MCP) sign, which appears as T2 hyperintensity in the MCP on MRI. FXTAS is almost never considered in the context of cervical dystonia. However, this case demonstrates that FXTAS can initially present with cervical dystonia.
View Article and Find Full Text PDFEthiop J Health Sci
May 2025
Department of Neurosurgery Saint Peter's Specialized Hospital, Addis Ababa Ethiopia.
Background: SGCE myoclonus dystonia is a rare genetic movement disorder caused by mutations in the SGCE gene. It typically presents in childhood and is characterized by myoclonus and dystonia. The inheritance pattern is autosomal dominant with maternal imprinting.
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