Abstract Obsessive–compulsive disorder (OCD) is a common psychiatric disorder which is easily recognized. However, sometimes patients of OCD present in such an atypical or bizarre way that their problem comes to notice as being a psychiatric disorder after multiple consultations in different specialties.
Bhavik Tushar Chheda, Anup S. Bharati
openaire +2 more sources
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss +10 more
wiley +1 more source
Beneficence‐Based Obligations and Ethics Consultation in Assisted Dying
ABSTRACT In ethical debates on assisted dying, the principle of respect for autonomy is usually invoked to justify respecting requests for assisted dying. However, there are not only autonomy‐based obligations, but also obligations arising from the principle of beneficence towards persons requesting assisted dying.
Georg Marckmann, Anna Hirsch
wiley +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
Focal Dystonic Tremor as a Prominent Feature in a Child with a
Marta Mercati +6 more
openaire +2 more sources
Dystonic tremor in Writer's cramp Mimicking primary handwriting tremor. [PDF]
Cataniag P +3 more
europepmc +1 more source
Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report. [PDF]
Edwards E +4 more
europepmc +1 more source
Painful Paroxysmal Dystonia as a Revealing Symptom of Multiple Sclerosis: A Case Report and Literature Review. [PDF]
Mabrouki FE +3 more
europepmc +1 more source
"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option". [PDF]
Dutta D +4 more
europepmc +1 more source

