Diagnostic gait pattern in a treatable neuromuscular disorder
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ABSTRACT:
SUBMITTER: Singanamalla B
PROVIDER: S-EPMC8257132 | biostudies-literature |
REPOSITORIES: biostudies-literature
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2013-12-01 | E-GEOD-46615 | biostudies-arrayexpress
Project description:Individuals with cerebral palsy (CP) have impaired movement due to a brain injury near birth. Understanding how neuromuscular control is altered in CP can provide insight into pathological movement. We sought to determine if individuals with CP demonstrate reduced complexity of neuromuscular control during gait compared with unimpaired individuals and if changes in control are related to functional ability.Muscle synergies during gait were retrospectively analyzed for 633 individuals (age range 3.9-70y): 549 with CP (hemiplegia, n=122; diplegia, n=266; triplegia, n=73; quadriplegia, n=88) and 84 unimpaired individuals. Synergies were calculated using non-negative matrix factorization from surface electromyography collected during previous clinical gait analyses. Synergy complexity during gait was compared with diagnosis subtype, functional ability, and clinical examination measures.Fewer synergies were required to describe muscle activity during gait in individuals with CP compared with unimpaired individuals. Changes in synergies were related to functional impairment and clinical examination measures including selective motor control, strength, and spasticity.Individuals with CP use a simplified control strategy during gait compared with unimpaired individuals. These results were similar to synergies during walking among adult stroke survivors, suggesting similar neuromuscular control strategies between these clinical populations.
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Project description:BackgroundThe first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia.MethodsWe present 10-year longitudinal clinical features, MRI data, and treatment response to chelation therapy of the originally described patient with a proven homozygous mutation in SLC30A10.ResultsThe patient presented with early-onset generalized dystonia and mild hyperbilirubinemia accompanied by elevated whole-blood manganese levels. T1-sequences in MRI showed hyperintensities in the basal ganglia and cerebellum, characteristic of manganese deposition. Treatment with intravenous disodium calcium edetate led to clinical improvement and reduction of hyperintensities in brain imaging.ConclusionsWe wish to highlight this rare disorder, which, together with Wilson's disease, is the only potentially treatable inherited metal storage disorder to date, that otherwise can be fatal as a result of complications of cirrhosis. © 2012 Movement Disorder Society.
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Project description:Purine biosynthesis and metabolism, conserved in all living organisms, is essential for cellular energy homeostasis and nucleic acids synthesis. The de novo synthesis of purine precursors is under tight negative feedback regulation mediated by adenine and guanine nucleotides. We describe a new early-onset distinct neurodegenerative condition resulting from mutations in the adenosine monophosphate deaminase 2 gene (AMPD2). Patients have characteristic brain imaging features of pontocerebellar hypoplasia (PCH), due to loss of brainstem and cerebellar parenchyma. We found that AMPD2 plays an evolutionary conserved role in the maintenance of cellular guanine nucleotide pools by regulating the feedback inhibition of adenosine derivatives on de novo purine synthesis. AMPD2 deficiency results in defective GTP-dependent initiation of protein translation, which can be rescued by administration of purine precursors. These data suggest AMPD2-related PCH as a new potentially treatable early-onset neurodegenerative disease.
2013-12-01 | GSE46615 | GEO
Project description:Gait disorders can reduce the quality of life for people with neuromuscular impairments. Therefore, walking recovery is one of the main priorities for counteracting sedentary lifestyle, reducing secondary health conditions and restoring legged mobility. At present, wearable powered lower-limb exoskeletons are emerging as a revolutionary technology for robotic gait rehabilitation. This systematic review provides a comprehensive overview on wearable lower-limb exoskeletons for people with neuromuscular impairments, addressing the following three questions: (1) what is the current technological status of wearable lower-limb exoskeletons for gait rehabilitation?, (2) what is the methodology used in the clinical validations of wearable lower-limb exoskeletons?, and (3) what are the benefits and current evidence on clinical efficacy of wearable lower-limb exoskeletons? We analyzed 87 clinical studies focusing on both device technology (e.g., actuators, sensors, structure) and clinical aspects (e.g., training protocol, outcome measures, patient impairments), and make available the database with all the compiled information. The results of the literature survey reveal that wearable exoskeletons have potential for a number of applications including early rehabilitation, promoting physical exercise, and carrying out daily living activities both at home and the community. Likewise, wearable exoskeletons may improve mobility and independence in non-ambulatory people, and may reduce secondary health conditions related to sedentariness, with all the advantages that this entails. However, the use of this technology is still limited by heavy and bulky devices, which require supervision and the use of walking aids. In addition, evidence supporting their benefits is still limited to short-intervention trials with few participants and diversity among their clinical protocols. Wearable lower-limb exoskeletons for gait rehabilitation are still in their early stages of development and randomized control trials are needed to demonstrate their clinical efficacy.
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Project description:BackgroundDownbeat nystagmus (DBN) is a common form of acquired fixation nystagmus with key symptoms of oscillopsia and gait disturbance. Gait disturbance could be a result of impaired visual feedback due to the involuntary ocular oscillations. Alternatively, a malfunction of cerebellar locomotor control might be involved, since DBN is considered a vestibulocerebellar disorder.MethodsInvestigation of walking in 50 DBN patients (age 72 ± 11 years, 23 females) and 50 healthy controls (HS) (age 70 ± 11 years, 23 females) using a pressure sensitive carpet (GAITRite). The patient cohort comprised subjects with only ocular motor signs (DBN) and subjects with an additional limb ataxia (DBNCA). Gait investigation comprised different walking speeds and walking with eyes closed.ResultsIn DBN, gait velocity was reduced (p<0.001) with a reduced stride length (p<0.001), increased base of support (p<0.050), and increased double support (p<0.001). Walking with eyes closed led to significant gait changes in both HS and DBN. These changes were more pronounced in DBN patients (p<0.001). Speed-dependency of gait variability revealed significant differences between the subgroups of DBN and DBNCA (p<0.050).Conclusions(I) Impaired visual control caused by involuntary ocular oscillations cannot sufficiently explain the gait disorder. (II) The gait of patients with DBN is impaired in a speed dependent manner. (III) Analysis of gait variability allows distinguishing DBN from DBNCA: Patients with pure DBN show a speed dependency of gait variability similar to that of patients with afferent vestibular deficits. In DBNCA, gait variability resembles the pattern found in cerebellar ataxia.
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