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Automatic exposure control
Automatic exposure control (AEC) is a radiographic technique in which sensors behind the patient terminate the X-ray exposure once the image receptor receives a preset signal, keeping image quality consistent.
Automatism
Automatism: involuntary, unconscious mechanical behavior, from 19th-century reflex physiology and psychological automatisms (Myers, Janet, de Clérambault) to epileptic automatisms (ICD-11 MB45.1) and the sane versus insane automatism defense in criminal law.
AUTON'HOME study
AUTON'HOME (NCT07317388) is an observational study at Centre hospitalier de Ville-Evrard, France, testing a 10-session, 2-hour group psychoeducation program in a training apartment to build home autonomy for adults with severe mood or psychotic disorders.
Autonomic Denervation
Autonomic denervation: surgical or catheter-based interruption of autonomic nerves (sympathectomy, parasympathectomy, renal denervation) for therapy or research; includes 1924 lumbar sympathectomy origins and 2023 FDA renal denervation approval.
Autonomic dysreflexia
Autonomic dysreflexia, also called autonomic hyperreflexia, is a life-threatening condition in which a noxious stimulus below a spinal cord injury at or above T6 triggers sudden severe hypertension.
Autonomic nervous system
Autonomic nervous system (ANS): involuntary branch of the peripheral nervous system, divisions sympathetic, parasympathetic, and enteric; term coined by Langley in 1898; regulates heart rate, blood pressure, respiration, digestion.
Autonomic nervous system hyperactivity
Autonomic nervous system hyperactivity (ICD-11 8D86) is excessive autonomic activity, chiefly paroxysmal sympathetic hyperactivity after brain injury and autonomic dysreflexia after spinal cord injury at or above T6.
Autonomic neuron
Autonomic neuron: efferent neuron of the autonomic nervous system, in preganglionic (CNS, cholinergic) and postganglionic (ganglionic, noradrenergic or cholinergic) forms, innervating smooth muscle, cardiac muscle, and glands.
Autonomic neuropathies
Autonomic neuropathies are peripheral nerve disorders with disproportionate damage to autonomic fibers, causing orthostatic hypotension, gastroparesis, neurogenic bladder, and sweating and sexual dysfunction; diabetes is the most common cause, diagnosed by autonomic reflex testing.
Autophobia
Autophobia, also called monophobia, eremophobia, or isolophobia, is an intense irrational fear of being alone, diagnosed as a specific phobia and treated mainly with exposure therapy and CBT.
Autopsy
Autopsy (post-mortem examination, necropsy): medical examination of a body after death by a pathologist. Two types, forensic (legally ordered) and clinical (hospital, consent-based); determines cause and manner of death, audits diagnoses, rates now under 10%.
Autorefraction
Autorefraction is an ophthalmic examination method in which an instrument called an autorefractor objectively measures a person's refractive error and estimates the spectacle prescription without subjective responses.
Autosomal dominant brachyolmia
Autosomal dominant brachyolmia (brachyolmia type 3, OMIM 113500) is a rare TRPV4-related skeletal dysplasia with short-trunk short stature, platyspondyly, kyphoscoliosis, and adult-onset degenerative joint disease, inherited dominantly.
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
CMT2A1 (ORPHA:99946, OMIM 118210) is a rare autosomal dominant axonal Charcot-Marie-Tooth neuropathy linked to KIF1B, with childhood onset, leg-predominant weakness, and postural tremor; distinct from the common MFN2-related CMT2A2.
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2, OMIM 609260), an MFN2-related axonal neuropathy with childhood-onset distal weakness, areflexia, foot deformities, and severe disability, sometimes with optic atrophy and vocal cord palsy.
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B, OMIM 600882) is a rare axonal sensorimotor neuropathy caused by RAB7A missense mutations, with onset in the second or third decade, distal sensory loss, and ulcerating foot infections.
Autosomal dominant Charcot-Marie-Tooth disease type 2C
CMT2C (autosomal dominant Charcot-Marie-Tooth disease type 2C, OMIM 606071) is a rare TRPV4-related axonal neuropathy with vocal cord paresis, hearing loss, and breathing muscle weakness; no cure, ABS-0871 in trials.
Autosomal dominant Charcot-Marie-Tooth disease type 2D
CMT2D (OMIM 601472, ORPHA 99938), also dSMA-V spectrum, is a rare autosomal dominant axonal neuropathy from GARS1 variants, causing slowly progressive distal weakness predominantly in the hands, with adolescent or adult onset.
Autosomal dominant Charcot-Marie-Tooth disease type 2E
CMT2E, also called CMT1F or CMTDIG when classified by nerve conduction, is an autosomal dominant axonal neuropathy caused by NEFL mutations, with distal weakness, pes cavus, onset from childhood to late adulthood.
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F, OMIM 606595) is a rare axonal hereditary neuropathy caused by HSPB1 (Hsp27) mutations, causing distal lower-limb weakness, variable sensory loss, and overlap with dHMN2.
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I, OMIM 607677) is a rare adult-onset axonal hereditary neuropathy caused by MPZ mutations, marked by severe sensory loss, distal leg weakness, and reduced reflexes.
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is an axonal variant of Charcot-Marie-Tooth disease, an inherited peripheral neuropathy, typically beginning in adulthood with hearing loss, pupillary abnormalities, and distal muscle weakness.
Autosomal dominant Charcot-Marie-Tooth disease type 2K
CMT2K, autosomal dominant Charcot-Marie-Tooth disease type 2K, AD-CMTAx-GDAP1: a rare axonal peripheral neuropathy from dominant GDAP1 mutations (8q13.3), milder and later-onset than recessive GDAP1 disease, with very slow progression.
Autosomal dominant Charcot-Marie-Tooth disease type 2L
CMT2L (ORPHA:99945, OMIM 608673) is an extremely rare autosomal dominant axonal Charcot-Marie-Tooth neuropathy caused by HSPB8 mutations at 12q24, onset 15-33 years, one family reported, allelic to dHMN2A.
Autosomal dominant Charcot-Marie-Tooth disease type 2N
CMT2N (OMIM 613287), autosomal dominant Charcot-Marie-Tooth disease type 2N, a rare mild axonal neuropathy caused by heterozygous AARS1 variants on chromosome 16q22.1, with dominant-negative and hypermorphic mechanisms described.
Autosomal dominant Charcot-Marie-Tooth disease type 2O
CMT2O, autosomal dominant Charcot-Marie-Tooth disease type 2O, is a rare axonal hereditary neuropathy caused by DYNC1H1 (14q32.31) His306Arg mutations, with childhood-onset distal lower limb weakness, pes cavus, and normal nerve conduction velocities.
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
CMT2Q (DHTKD1 Charcot-Marie-Tooth disease, OMIM 615025) is a rare autosomal dominant axonal neuropathy from heterozygous DHTKD1 loss-of-function on 10p14, causing adolescent-to-adult distal limb weakness, pes cavus, and sensory loss.
Autosomal dominant Charcot-Marie-Tooth disease type 2W
CMT2W, autosomal dominant Charcot-Marie-Tooth disease type 2W due to HARS1 mutation, is a rare axonal hereditary neuropathy with gait difficulties, distal sensory impairment, pes cavus, and variable childhood-to-adult onset.
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
CMT2Y (autosomal dominant Charcot-Marie-Tooth disease type 2Y, ORPHA 435387, OMIM 616687) is a rare axonal hereditary neuropathy from heterozygous VCP mutations on 9p13.3, causing distal weakness, atrophy, and sensory loss.
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
CMT2Z (Charcot-Marie-Tooth disease type 2Z, OMIM 616688) is a rare autosomal dominant axonal neuropathy caused by missense variants in MORC2, with p.R252W the most common mutation, lower-limb cramps, distal weakness, and pes cavus as typical features.