72,234 articles
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E (CMT1E), also called CMT-deafness syndrome, is a rare autosomal dominant demyelinating neuropathy caused by PMP22 point mutations, ranging from HNPP-like mild to Dejerine-Sottas-like severe phenotypes, sometimes with hearing loss.
Charcot-Marie-Tooth disease type 1J
Charcot-Marie-Tooth disease type 1J (CMT1J) is a rare autosomal dominant demyelinating CMT subtype caused by ITPR3 variants, with only four pathogenic variants described, high clinical variability, intermediate conduction velocities, and ClinGen definitive classification.
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 2H (CMT2H, CMT4C2, AR-CMT2C) is an ultra-rare autosomal recessive axonal CMT polyneuropathy with pyramidal involvement, described in 13 members of one Tunisian family, linked to chromosome 8q13-q21.1 and the GDAP1 gene.
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2P (CMT2P, formerly CMT2G) is a rare axonal hereditary neuropathy caused by LRSAM1 mutations on 9q33, with dominant or recessive inheritance, adult onset, distal weakness, sensory loss, and reported parkinsonism.
Charcot-Marie-Tooth disease type 2R
CMT2R (Charcot-Marie-Tooth disease type 2R, OMIM 615490) is an ultra-rare autosomal recessive axonal neuropathy caused by TRIM2 loss-of-function mutations, with infantile-onset hypotonia, weakness, areflexia, and vocal cord paralysis; no condition-specific treatment trial exists.
Charcot-Marie-Tooth disease type 2S
CMT2S (Charcot-Marie-Tooth disease type 2S, ORPHA:443073) is a rare autosomal recessive axonal neuropathy caused by IGHMBP2 mutations, first described in 2014, with distal weakness, areflexia, mild sensory loss, and the milder phenotype compared with SMARD1.
Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 2T (CMT2T, AR-CMT2T, OMIM 617017) is a rare autosomal recessive axonal neuropathy caused by biallelic MME (neprilysin) variants, with adult onset around 45 years, distal leg weakness, and preserved ambulation.
Charcot-Marie-Tooth disease type 4A
CMT4A (GDAP1-related CMT, OMIM 214400) is an autosomal recessive Charcot-Marie-Tooth subtype caused by GDAP1 mutations on chromosome 8q21.1, with early-onset severe demyelinating, axonal, or intermediate neuropathy, vocal cord paresis, and rapid progression to walking aids or wheelchair use.
Charcot-Marie-Tooth disease type 4B1
CMT4B1 (Charcot-Marie-Tooth disease type 4B1, MTMR2-related CMT4) is an ultrarare recessive demyelinating neuropathy with myelin outfoldings, childhood onset, faster progression than CMT4B2, and AAV9 gene therapy in development.
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 (CMT4B2, OMIM 604563) is a rare autosomal recessive demyelinating neuropathy caused by SBF2/MTMR13 mutations on 11p15, with childhood onset, focally folded myelin, and early-onset glaucoma.
Charcot-Marie-Tooth disease type 4B3
CMT4B3 (Charcot-Marie-Tooth disease with focally folded myelin, ORPHA:363981) is an ultra-rare autosomal recessive CMT4 subtype caused by SBF1/MTMR5 mutations on chromosome 22q13.33, with childhood-onset neuropathy, conduction velocities under 38 m/s, and folded myelin on biopsy.
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C (CMT4C, SH3TC2-HMSN) is an autosomal recessive demyelinating neuropathy caused by biallelic SH3TC2 variants, marked by early severe scoliosis, foot deformities, hearing loss, and demyelinating nerve conduction velocities.
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4D (CMT4D, HMSN-Lom) is an autosomal recessive demyelinating neuropathy caused by NDRG1 mutations, chiefly the Roma founder p.Arg148 allele, with childhood-onset weakness, foot deformities, and deafness by the third decade.
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4E (CMT4E, congenital hypomyelinating neuropathy 1) is a rare autosomal recessive demyelinating neuropathy caused by EGR2 (Krox20) mutations on 10q21.3, presenting at birth with hypotonia, areflexia, distal weakness, and nerve conduction velocities often below 10 m/s.
Charcot-Marie-Tooth disease type 4F
CMT4F (Charcot-Marie-Tooth disease type 4F, OMIM 614895) is a rare severe autosomal recessive demyelinating neuropathy caused by PRX (periaxin) mutations on 19q13.2, with childhood onset, severe sensory loss, sensory ataxia, and slow nerve conduction; distinct from FIG4-related CMT4J.
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4G, also known as hereditary motor and sensory neuropathy, Russe type, is an autosomal recessive demyelinating neuropathy caused by HK1 mutations and reported mainly in European Roma communities.
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4H (CMT4H, OMIM 609311) is a rare autosomal recessive demyelinating neuropathy beginning before age 2, caused by FGD4/frabin mutations on chromosome 12, with areflexia, scoliosis, and severely slowed nerve conduction.
Charcot-Marie-Tooth disease type 4J
CMT4J (Charcot-Marie-Tooth disease type 4J) is an ultra-rare autosomal recessive neuropathy from FIG4 gene mutations, causing asymmetric weakness and demyelination; an AAV9 gene therapy, ELP-02, entered a first-in-human trial in 2026.
Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT), or hereditary motor and sensory neuropathy, is the most common inherited peripheral neuropathy, prevalence about 1 in 2,500. Major genes PMP22, MPZ, MFN2, GJB1; no cure, only rehabilitation, orthotics, and surgery.
Chard
Chard, also called Swiss chard or silver beet, is a cool-season leafy vegetable in the beet family, grown for its large edible leaves and fleshy stalks rather than a root.
CHARGE syndrome
CHARGE syndrome (Hall-Hittner syndrome, CHARGE association): rare autosomal dominant multisystem disorder caused mainly by de novo CHD7 variants, occurring in about 1 in 8,500-10,000 newborns, featuring coloboma, choanal atresia, ear anomalies, and heart defects.
Charing Cross Hospital
Charing Cross Hospital is an NHS acute teaching hospital in Hammersmith, London, run by Imperial College Healthcare NHS Trust. Founded 1818 by Benjamin Golding as the West London Infirmary, renamed 1827, moved to Fulham Palace Road 1973; CQC overall rating Good.
Charis Eng
Charis Eng (1962–2024) was a Singapore-born physician-scientist in clinical cancer genetics who defined the inherited genetics of the RET and PTEN tumor-susceptibility genes and founded the Cleveland Clinic Genomic Medicine Institute in 2005.
Charis Roussos
Charis Roussos is a Greek pulmonary physician-scientist known for respiratory muscle fatigue research, who trained over a hundred physicians and is considered the father of academic intensive care in Greece.
CHARISMA study
CHARISMA (NCT03793998) is an Italian multicenter prospective observational registry of real-world catheter ablation of cardiac arrhythmias using high-density mapping, sponsored by Azienda Ospedaliera Pugliese Ciaccio, with about 2000 planned enrollments and substudies on local impedance, cryoballoon, and ultra-high-density mapping.
Charismatic megafauna
Charismatic megafauna: large, publicly beloved animals such as elephants, pandas, and whales used as flagship species to drive conservation funding and tourism, despite documented bias against less charismatic threatened species.
Charité
Charité – Universitätsmedizin Berlin, founded 1710 as a plague house and named 1727 by Friedrich Wilhelm I, is Europe's largest university hospital, joint institution of Humboldt and Free Universities, with four campuses, the BIH, and the DHZC.
Charles A. Alford
Charles A. Alford was an American pediatrician at the University of Alabama at Birmingham who led its pediatric infectious diseases division for 28 years and became a world authority on congenital cytomegalovirus.
Charles A. Chidsey
Charles A. Chidsey is an American cardiologist and clinical pharmacologist at the University of Colorado School of Medicine, known for 1960s norepinephrine studies in heart failure.
Charles A. Czeisler
Charles A. Czeisler is an American physician-scientist at Harvard Medical School who studies circadian rhythms and sleep deficiency, and led research establishing limits on resident physicians' work hours.