Results 71 to 80 of about 121,621 (353)
PLoS ONE, 2014 Cerebral palsy (CP) of the spastic type is a neurological disorder characterized by a velocity-dependent increase in tonic stretch reflexes with exaggerated tendon jerks.
M. de Bruin +4 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
Evaluationof efficiency of methods of neuromodulation in the treatment of spastic syndromes in patients with spinal cord injury [PDF]
Саратовский научно-медицинский журнал, 2014 Objective: to evaluate the efficiency of the neuromodulation methods and to determine their role in complex rehabilitation of patients with spastic syndromes after spinal cord injury. Material and methods: Based on the study and treatment of 105 patients
Smolkin А.А. +2 more
doaj
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses +21 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Oxcarbazepine and spasticity: further observations
Arquivos de Neuro-Psiquiatria, 1988 The previously described anti-spastic effect of oxcarbazepine and 10,11-dihydro-10-hydroxycarbamazepine was found accidentally in 2 patients undergoing a double-blind comparative study lor evaluation of antiepileptic effect.
Paulo Rogério M. Bittencourt
doaj +1 more source
Management of spasticity [PDF]
Age and Ageing, 1998 Spasticity is a major challenge to the rehabilitationteam. Spasticity can prevent or hamper function, causepain, disturb sleep, cause unnecessary complicationsand present major difficulties for care workers. Thisarticle reviews the variety of options available for theclinical management of spasticity.
openaire +3 more sources
Annals of Neurology, EarlyView.Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker +79 more
wiley +1 more source
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, EarlyView.Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer +52 more
wiley +1 more source
Hereditary spastic paraplegia: Novel insights into the pathogenesis and management
SAGE Open MedicineHereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many
Wireko Andrew Awuah +18 more
doaj +1 more source