BACKGROUND: Retrospective studies suggest that spinal movement disorders, especially tonic spasms, are prevalent in NMOSD. However, there have been no prospective studies evaluating spinal movement disorders in NMOSD, MOGAD, and idiopathic transverse myelitis (ITM).
METHODS: Patients referred to a tertiary neuroimmunology clinic for spinal cord demyelination (excluding MS) were evaluated. All patients answered a movement disorders survey and underwent a movement disorder-focused exam. Movement disorders were compared among patients with NMOSD with and without AQP4-IgG, MOGAD, and ITM. Patients with and without involuntary movements were also compared to identify predictors of spinal movement disorders.
RESULTS: Sixty-three patients were evaluated from 2017 to 2021 (71% females, median age 49 years, range 18-72 years, median disease duration 12 months, range 1-408). Of the total, 49% had ITM, 21% had NMOSD without AQP4-IgG, 19% had NMOSD with AQP4-IgG, and 11% had MOGAD. Movement disorders were present in 73% of the total patients and were most frequent in NMOSD with AQP4-IgG (92%) and least frequent in MOGAD (57%). The most frequent spinal movement disorders were tonic spasms (57%), focal dystonia (25%), spinal tremor (16%), spontaneous clonus (9.5%), secondary restless limb syndrome (9.5%), and spinal myoclonus (8%). Multivariate analysis showed that longitudinally extensive myelitis and AQP4-IgG are independent risk factors for the development of spinal movement disorders, while MOG-IgG and African American race were associated with a lower risk of developing these movement disorders.
CONCLUSIONS: Spinal movement disorders are highly prevalent in non-MS demyelinating disorders of the spinal cord. Prevalence rates exceed those reported in MS and retrospective NMOSD studies.

Neuromyelitis optica spectrum disorders (NMOSD) are a group of autoimmune inflammatory conditions that primarily target the optic nerves, spinal cord, brainstem, and occasionally the cerebrum. NMOSD is characterized by recurrent attacks of visual, motor, and/or sensory dysfunction that often result in severe neurological deficits. In recent years, there has been a significant progress in relapse treatment and prevention but the residual disability per attack remains high. Although symptomatic and restorative research has been limited in NMOSD, some therapeutic approaches can be inferred from published case series and evidence from multiple sclerosis literature. In this review, we will discuss established and emerging therapeutic options for symptomatic treatment and restoration of function in NMOSD. We highlight NMOSD-specific considerations and identify potential areas for future research. The review covers pharmacologic, non-pharmacologic, and neuromodulatory approaches to neuropathic pain, tonic spasms, muscle tone abnormalities, sphincter dysfunction, motor and visual impairment, fatigue, sleep disorders, and neuropsychological symptoms. In addition, we briefly discuss remyelinating agents and mesenchymal stem cell transplantation in NMOSD.

Spasticity can be associated with several hyperkinetic involuntary movements generally referred to as \"spasms\" despite different phenomenology and clinical characteristics.
To better characterize the phenomenology and clinical characteristics of spasticity-associated involuntary movements.
We performed a cross-sectional study of a consecutive patient sample from the spasticity clinic. Each patient was interviewed by a movement-disorder neurologist who conducted a standardized movement-disorder survey and a focused exam. Patients with involuntary movements were video-recorded and videos were independently rated by a separate blinded movement-disorder neurologist.
Sixty-one patients were included (54% female, mean age 49.7 ± 13.9 years). Of the entire cohort, 11.5% had spinal, 44.3% had cerebral, and 44.3% had mixed-origin spasticity. Fifty-eight patients (95%) reported one or more involuntary movements: 75% tonic spasms (63% extensor, 58% isometric, 41% flexor/adductor), 52% spontaneous clonus, 34% myoclonus, 33% focal dystonia, and 28% action tremor. One third of the involuntary movements were painful. Only 53% of patients reported that their involuntary movements were much or very-much improved with their current anti-spasticity management. Patients treated with intrathecal baclofen therapy were more likely to report much or very-much improvement compared to patients receiving oral and/or botulinum therapy (P = 0.0061 and 0.0069 respectively).
Most spastic patients experience spasticity-associated involuntary movements of variable phenomenology and impact. However, only half of these patients experience significant improvement with the current management strategies. More research is needed to explore better treatment options for spasticity-associated involuntary movements with focus on phenomenology-specific approaches.

UNASSIGNED: Spinal cord demyelination can cause several movement disorders. Although these abnormal movements could be the presenting symptom of the disease and, at times, the major source of disability, they are often overlooked, mislabeled, or undertreated. The aims of this study were to clearly define and establish common terminology for spinal movement disorders (SMDs) and characterize their full spectrum in patients with neuromyelitis optica (NMO).
UNASSIGNED: We chart reviewed 37 patients with NMO or NMO spectrum disorder. We classified spinal movement disorders under five categories: tonic spasms; focal dystonia; spinal myoclonus; spontaneous clonus; and tremors of spinal origin. We examined clinical, MRI, and medication data of symptomatic patients.
UNASSIGNED: Of the 37 patients (86.4% female; mean age: 51 ± 17 years; mean disease duration: 9.4 ± 5.3 years), 16 (43.2%) had one or more form of SMDs. Compared to those without SMDs, patients with SMDs were generally older at presentation and were less likely to be African Americans. An abnormal movement was the main complaint in at least one posthospitalization visit in all symptomatic patients. Thirteen (35.1%) patients had paroxysmal tonic spasms, 2 (5.4%) had focal dystonia, 3 (8%) had postural/action tremors, and no patient had spinal myoclonus or spontaneous clonus. In 9 patients, spasms were painful. There was no signal abnormality in the basal ganglia or the brainstem/cerebellum in any of the symptomatic patients.
UNASSIGNED: SMDs are common in NMO and are often a major source of disability. Using clear, unified terminology to describe SMDs is crucial for both clinical and research purposes.

Vagus nerve stimulation (VNS) leads to palliation of refractory seizures. Epileptic spasms (ES) and tonic spasms (TS) appear in children with West syndrome and symptomatic generalized epilepsy. Both types of spasms are often characterized by truncal muscular contractions and ictal electroencephalography (EEG) findings comprising the contiguous phases: phase 1) 15-20 Hz, spindle-like fast activity (occur in 70%), 2) diffuse polyphasic δ/θ waves (100%), and 3) electrodecremental activity (70%). Here, we examined the effect of VNS on these spasms that are uniformly associated with the EEG and electromyogram changes.
A consecutive series of 32 patients satisfied the inclusion criteria consisting of 1) medically refractory epilepsy, 2) VNS implantation between 2010 and 2015, 3) implantation of VNS before the age of 20 years, and 4) follow-up >2 years. From this cohort, 16 patients had spasms (ES/TS group), whereas the remaining 16 had partial seizures with or without secondary generalization (PS/SG group). We compared seizure outcomes between the two groups, and also determined the factors predicting these outcomes within the ES/TS group.
The outcomes after 2 years of implantation, defined using the McHugh classification, were as follows: II (for 2 patients), III (5), and V (9) in the ES/TS group; and I (3 patients), II (6), III (2), IV (1), and V (4) in the PS/SG group. The ES/TS group had significantly worse outcomes than the PS/SG group (p = 0.024, Mann-Whitney U test). Multivariate ordinal logistic regression analysis revealed that shorter mean durations of ictal events were associated with better seizure outcomes following VNS implantation (p = 0.007).
Only 13% of the patients in the ES/TS group had seizure reductions of greater than 50%. VNS was less effective for the treatment of patients with ES/TS than for those with PS/SG and those described in previous studies.

Purpose of review The purpose of this review is to provide updated information on the role of botulinum neurotoxin (BoNT) therapy in multiple sclerosis (MS). This review aims to answer which symptoms of multiple sclerosis may be amenable to BoNT therapy. Recent findings We searched the literature on the efficacy of BoNTs for treatment of MS symptoms up to April 1st 2017 via the Yale University Library\'s search engine including but not limited to Pub Med and Ovis SP. The level of efficacy was defined according to the assessment\'s criteria set forth by the Subcommittee on Guideline Development of the American Academy of Neurology. Significant efficacy was found for two indications based on the available blinded studies (class I and II) and has been suggested for several others through open-label clinical trials. Summary There is level A evidence (effective- two or more class I) that injection of BoNT-A into the bladder\'s detrusor muscle improves MS-related neurogenic detrusor overactivity (NDO) and MS-related overactive (OA) bladder. There is level B evidence (probably effective- two class II studies) for utility of intramuscular BoNT-A injections for spasticity of multiple sclerosis. Emerging data based on retrospective class IV studies demonstrates that intramuscular injection of BoNTs may help other symptoms of MS such as focal tonic spasms, focal myokymia, spastic dysphagia, and double vision in internuclear ophthalmoplegia. There is no data on MS-related trigeminal neuralgia and sialorrhea, two conditions which have been shown to respond to BoNT therapy in non-MS population.

Tonic spasms (TS) are involuntary movement patterns that can present in patients with multiple sclerosis (MS). They have been first described decades ago, but are frequently missed and misdiagnosed, particularly in the pediatric MS patients and if appearing ahead of hallmark neurological signs and symptoms of MS. Slovenia is a country with the population of about 2 million people. In the years from 1992 to 2016, we have treated 57 sequential pediatric patients with MS at our hospital, which is the only tertiary medical institution for treating children with MS in the country. We present the only two MS patients, a 17-year-old girl and a 14-year-old boy, whose first manifestation of MS were TS. This allowed us to estimate the incidence of TS in pediatric MS patients in Slovenia.

Early myoclonic encephalopathy (EME) presents in neonatal period with erratic or fragmentary myoclonus and a burst-suppression electroencephalography (EEG) pattern. Nonketotic hyperglycinemia (NKH) is the most common metabolic cause of EME and genetic testing confirms the diagnosis of NKH in around 75% of the patients with a clinical diagnosis of NKH. Three genes are known to cause NKH. Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected.

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