25,729 articles
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 54 (SPG54, hereditary spastic paraplegia 54) is a rare complex HSP caused by biallelic DDHD2 mutations (8p11.23), with early-onset spastic paraplegia, intellectual disability, thin corpus callosum, and a thalamic lipid peak on MRS.
Autosomal recessive spastic paraplegia type 55
SPG55, autosomal recessive spastic paraplegia type 55, C12ORF65-related HSP: rare childhood-onset complex hereditary spastic paraplegia with optic atrophy, ophthalmoplegia, and sensorimotor neuropathy, caused by C12ORF65 mutations at 12q24.31 (OMIM 615035).
Autosomal recessive spastic paraplegia type 57
SPG57 (autosomal recessive spastic paraplegia type 57, ORPHA431329, OMIM 615658) is an extremely rare complex hereditary spastic paraplegia caused by TFG gene mutations at 3q12.2, with infancy-onset leg spasticity, optic atrophy, and distal neuropathy.
Autosomal recessive spastic paraplegia type 5A
SPG5A (SPG5, OMIM 270800) is a rare autosomal recessive hereditary spastic paraplegia caused by CYP7B1 mutations, causing oxysterol accumulation, progressive leg spasticity, and elevated plasma 27-hydroxycholesterol as a diagnostic biomarker.
Autosomal recessive spastic paraplegia type 61
SPG61 (autosomal recessive spastic paraplegia type 61, ARL6IP1 complex spastic paraplegia) is a rare infantile-onset complicated hereditary spastic paraplegia caused by biallelic ARL6IP1 mutations at 16p12.3, featuring scissors gait, polyneuropathy, and digit loss; OMIM 615685.
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 64 (SPG64, ENTPD1-related neurodevelopmental disorder) is an ultra-rare complex hereditary spastic paraplegia caused by biallelic ENTPD1 mutations at 10q24.1, with childhood-onset spastic paraplegia and intellectual disability.
Autosomal recessive spastic paraplegia type 76
SPG76 (OMIM 616907) is a rare autosomal recessive hereditary spastic paraplegia caused by CAPN1 mutations at 11q13.1, with adult-onset lower limb spasticity, gait disturbance, ataxia, dysarthria, and pes cavus.
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 78 (SPG78, OMIM 617225) is a rare complex hereditary spastic paraplegia caused by biallelic ATP13A2 mutations at 1p36.13, with adult-onset lower-limb spasticity, axonal neuropathy, cerebellar ataxia, and cognitive impairment, overlapping Kufor-Rakeb syndrome.
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (SCABD, also called SCAR3) is a rare autosomal recessive disorder in which childhood-onset cerebellar ataxia occurs with blindness and deafness.
Autosomal recessive spondylocostal dysostosis
Autosomal recessive spondylocostal dysostosis (SCDO, Jarcho-Levin syndrome) is a rare Notch-pathway skeletal disorder with multiple vertebral segmentation defects, rib fusions, short trunk, and genes DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6.
Autosomal spastic paraplegia type 18
Autosomal spastic paraplegia type 18 (SPG18), also hereditary spastic paraplegia 18, is a rare complex HSP caused by ERLIN2 mutations, with childhood-onset spastic paraplegia, intellectual disability, joint contractures, and possible ALS conversion.
Autosomal spastic paraplegia type 30
Autosomal spastic paraplegia type 30 (SPG30, OMIM 610357) is a rare hereditary spastic paraplegia caused by KIF1A mutations at 2q37.3, inherited dominantly or recessively, with pure or complicated spastic paraplegia beginning in the first or second decade.
Autosomal spastic paraplegia type 58
Autosomal spastic paraplegia type 58 (SPG58, SPAX2, autosomal spastic ataxia type 2) is a rare hereditary spastic paraplegia caused by KIF1C mutations, combining lower limb spasticity with cerebellar ataxia, with mild dominant and severe recessive phenotypes.
Autosomal spastic paraplegia type 72
Autosomal spastic paraplegia type 72 (SPG72, SPG72A, OMIM 615625) is a rare pure hereditary spastic paraplegia caused by REEP2 mutations, with childhood onset spastic gait, hyperreflexia, and both dominant and recessive inheritance.
Autosomal systemic lupus erythematosus
Autosomal systemic lupus erythematosus (familial SLE, ORPHA:300345) is a rare genetic form of lupus with SLE in two or more family members, childhood onset, autosomal dominant or recessive inheritance, and DNASE1L3, C1R, DNASE1 mutations.
Autosuggestion
Autosuggestion, or self-suggestion, is the induction of beliefs, sensations, or behaviors by one's own ideas; systematized by Émile Coué's method, rooted in the Nancy school, and linked to self-hypnosis, expectancy, and placebo research.
Autotransfusion
Autotransfusion is a clinical procedure that collects blood a patient loses during surgery or trauma and reinfuses it, most commonly with a device called a cell saver.
Autotransplantation
Autotransplantation is a surgical procedure that transfers tissue or an organ, such as a tooth, kidney, or parathyroid tissue, from one site to another within the same person's body.
AV nodal reentrant tachycardia
AV nodal reentrant tachycardia (AVNRT), the most common paroxysmal supraventricular tachycardia, is a reentrant arrhythmia of the AV node based on dual fast and slow pathway physiology, treated acutely with vagal maneuvers and adenosine and cured by slow-pathway catheter ablation.
Avacopan
Avacopan (Tavneos, Vynpenta, Avacopan Vifor; CCX168) is an oral C5a receptor antagonist approved 2021 in Japan and the US as adjunctive therapy for severe ANCA-associated vasculitis, later retracted, suspended, and facing withdrawal.
Avalglucosidase alfa
Avalglucosidase alfa (Nexviadyme/Nexviazyme) is a second-generation enzyme replacement therapy for Pompe disease, a modified alpha-glucosidase with 13-18 bis-M6P glycans per molecule, approved in the EU in 2022 and the US in 2021.
Avalgujadi Lepa
Avalgujadi Lepa (अवल्गुजादि लेप) is a classical Ayurvedic herbo-mineral paste from Ashtanga Hridaya for vitiligo (Shwitra), made of bakuchi seed powder, purified orpiment (haratala), and cow urine.
Avanafil
Avanafil (Stendra, Spedra; development code TA-1790) is an oral PDE5 inhibitor approved in 2012 for erectile dysfunction, taken 15-30 minutes before activity, 50-200 mg, contraindicated with nitrates.
Avapritinib
Avapritinib (Ayvakit/Ayvakyt, BLU-285), Blueprint Medicines' oral kinase inhibitor of KIT D816V and PDGFRA D842V, FDA-approved 2020 for PDGFRA exon 18 GIST and systemic mastocytosis.
Avascular necrosis
Avascular necrosis (osteonecrosis, aseptic or ischemic necrosis) is bone death from interrupted blood supply, most often in the femoral head, caused by steroids, alcohol, trauma, sickle cell disease, and other factors.
Avasopasem manganese
Avasopasem manganese (GC4419) is Galera Therapeutics' investigational selective superoxide dismutase mimetic meant to reduce radiation-induced severe oral mucositis; the FDA declined approval in August 2023, requesting another trial.
Avatar therapy
Avatar therapy is a psychological therapy in which a person who hears distressing voices dialogues with a computer-generated avatar of the voice, first reported by Julian Leff in 2013.
Avelumab
Avelumab (Bavencio) is a human IgG1 PD-L1-blocking monoclonal antibody by EMD Serono/Merck KGaA and Pfizer, approved from 2017 for metastatic Merkel cell carcinoma, urothelial carcinoma maintenance, and renal cell carcinoma with axitinib.
Avelumab plus axitinib
Avelumab plus axitinib is a combination cancer therapy pairing the PD-L1 antibody avelumab with the oral kinase inhibitor axitinib, approved in 2019 as first-line treatment for advanced renal cell carcinoma.
Avexitide
Avexitide (exendin 9-39) is an investigational first-in-class GLP-1 receptor antagonist by Amylyx for post-bariatric hypoglycemia; Phase 3 LUCIDITY met its endpoint with a 55% reduction in Level 2/3 hypoglycemic events, NDA planned by end of 2026.