Lower Extremity Dystonia Research Articles

Botulinum toxin type A treatment of four cases of Wilson disease with lower limb dystonia: A prospective study

Botulinum toxin type A (BoNT-A) has been recommended in various neurological disorders as a useful tool for alleviating dystonia. In Wilson disease (WD) patients with dystonia, BoNT-A injection can be used as a treatment modality when conventional treatment is ineffective for alleviating symptoms. The purpose of this study was to thoroughly evaluate the efficacy of BoNT-A injection in treating WD complicated by lower extremity dystonia. The efficacy of these injections was assessed by clinical scales, surface electromyography (EMG), and gait analysis. A comparative analysis of all gait parameters, EMG parameters, and clinical scales revealed a significant increase in velocity, decrease in integrated EMG (iEMG), and improvement in modified Ashworth scale (MAS), Burke Fahn Marsden (BFM), and activities of daily living (ADL) scores (all P < 0.05). Overall, our findings indicated that BoNT-A injection led to marked relief of symptoms in patients with WD with lower extremity dystonia.

EP202: A new pathologic KMT2B variant associated with childhood onset dystonia presenting as variable phenotypes among family members

KMT2B-related dystonia (DYT-KMT2B) is an autosomal dominant disease resulting in a complex movement disorder. KMT2B is expressed ubiquitously throughout human tissues, with the greatest expression within the cerebellum. Additionally, KMT2B-dystonia patients have reduced KMT2B expression. To date, less than eighty affected individuals of varying genotypes have been identified. DYT-KMT2B typically presents in early childhood with lower extremity dystonia in the first decade. DYT-KMT2B is known to progress into generalized dystonia with associated dysphagia, spasticity, dysarthria, and dysphonia, generally two to eleven years after symptom onset.

6. Use of gait lab studies in lower extremity dystonia to identify muscles for injection

6. Use of gait lab studies in lower extremity dystonia to identify muscles for injection

The spectrum of disorders presenting as adult-onset focal lower extremity dystonia

The spectrum of disorders presenting as adult-onset focal lower extremity dystonia

SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.

To characterize the clinical and neuroradiologic features of a new spinocerebellar ataxia, SCA-12, in the index family. The authors recently linked SCA-12 to a novel CAG repeat expansion on chromosome 5q31-33 that is located within the 5' region of PPP2R2B, a gene encoding a brain-specific regulatory subunit of protein phosphatase 2A. Neurologic features of the proband and nine symptomatic relatives in the first SCA-12 family were compiled and, in some individuals, related to changes found on brain MRI or CT. SCA-12 typically presented in the 4th decade of life with action tremor of the head or arms (present in 10/10 of the affected individuals). Hyperreflexia (8/10) was a common feature, and cerebellar signs (8/10), including ataxia, dysmetria, and dysarthria, developed gradually but were less prominent and disabling than cerebellar dysfunction in other SCA. Subtle parkinsonian features (9/10) and dementia (2/10) were observed in later stages of SCA-12, and psychiatric symptoms, including depression, anxiety, or delusions, were present in some affected family members (4/10). Two individuals studied had nondisabling neurologic signs neonatally, including nystagmus and lower extremity dystonia. Brain images of affected individuals revealed cerebral and cerebellar atrophy. SCA-12 is a slowly progressive, autosomal dominant, neurodegenerative disorder that differs from other SCA in that it typically presents with action tremor in patients in their mid 30s and usually includes hyperreflexia and subtle parkinsonian signs. Cerebellar dysfunction, including gait ataxia, is relatively nondisabling, and cognitive or psychiatric disorders may occur. Neuroradiologic studies reveal atrophy of the cerebellum and cerebral cortex.