Results 21 to 30 of about 31,428 (320)
ABSTRACT:The stiff-person syndrome is a disorder of persistent, painful muscle contractions predominately affecting the axial musculature. We describe a patient with this disorder and review its pathophysiology. Molecular biologic and immunologic techniques have recently added to the understanding of the mechanism of this disorder.
M S, Jog, C D, Lambert, A E, Lang
openaire +2 more sources
Stiff-person syndrome manifesting as unilateral extrinsic ocular musculature paresis [PDF]
Iago Resende Carvalho +1 more
doaj +2 more sources
Stiff Person Syndrome and Acetylcholine Receptor Ganglionic Neuronal Antibodies
The association between stiff person syndrome and paraneoplastic syndromes has been described, linking intracellular or extracellular antibodies. We describe the case of a 64-year-old woman with stiff person syndrome and positivity for acetylcholine ...
Jacobo Lester +2 more
doaj +1 more source
Introduction First described in 1956, stiff person syndrome is characterized by episodes of slowly progressive stiffness and rigidity in both the paraspinal and limb muscles.
Hunt Thomas +2 more
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Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies
Anti-GAD antibody syndrome is a result of the production of antibodies against glutamic acid decarboxylase (GAD), the main enzyme responsible for the production of gamma-aminobutyric acid (GABA).
Sinali O. Seneviratne +3 more
doaj +1 more source
BackgroundStiff Person Syndrome Spectrum Disorders (SPSD) are a group of rare neurological disorders that can present alongside other autoimmune conditions.
Alexandra Balshi +9 more
doaj +1 more source
Antibodies to glutamic acid decarboxylase (GAD) have been predominantly associated with stiff-person syndrome (SPS), which is often accompanied by organ-specific autoimmune diseases, such as late-onset type 1 diabetes. Autoimmune retinal pathology in SPS
Vassilis E. Papadopoulos +4 more
doaj +1 more source
Stiff-person syndrome – a literature review
Stiff-person syndrome, also known as stiff-man syndrome (SMS) or the Moersch–Woltman syndrome, was first described in 1956. The disease is rare. The estimated prevalence in the general population is 1–2 cases/1,000,000, and the annual incidence is 1 case
Karol Jastrzębski
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E +30 more
core +2 more sources
Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese +116 more
core +2 more sources

