1,527 articles
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.
Chemical meningitis
Chemical meningitis, also called drug-induced aseptic meningitis (ICD-11 8E40.1), is rare sterile meningeal inflammation caused by drugs such as NSAIDs or antibiotics, or by contrast agents and neurosurgical procedures, with normal CSF glucose and recovery after stopping the cause.
Childhood absence epilepsy
Childhood absence epilepsy (CAE, formerly pyknolepsy) is an idiopathic generalized epilepsy of school-aged children with daily absence seizures and 2.5–4-Hz spike-wave on EEG; ethosuximide is first-line, remission about 60%.
Childhood dementia
Childhood dementia is a collective term for genetic neurodegenerative disorders in children, marked by progressive loss of developmental skills; most of the roughly 170 disorders are untreatable.
Childhood occipital visual epilepsy
Childhood occipital visual epilepsy (COVE), formerly Gastaut-type idiopathic childhood occipital epilepsy, is a self-limited childhood epilepsy with brief visual seizures, occipital EEG spikes, normal MRI, and remission in most children.
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
SCAR7, or childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324, OMIM 609270), is a rare recessive ataxia caused by TPP1 variants on 11p15, distinct from dominant ATXN7 SCA7, with no approved treatments.
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, or CONDBA/UBTF neuroregression syndrome, is an ultra-rare autosomal dominant neurodegenerative disease caused by the de novo UBTF c.628G>A (p.Glu210Lys) gain-of-function variant, causing childhood regression, dystonia, parkinsonism, chorea, ataxia, and progressive brain atrophy.
Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
CONDSIAS (childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome; OMIM 618170) is an ultra-rare autosomal recessive ADPRS/ADPRHL2 (ARH3) disorder with stress-triggered episodic ataxia, seizures, and regression after normal early development.
Chlamydial conjunctivitis
Chlamydial conjunctivitis, or adult inclusion conjunctivitis, is a chronic follicular conjunctivitis caused by sexually transmitted Chlamydia trachomatis serovars D-K; related neonatal and trachoma forms exist, treated with systemic azithromycin or doxycycline.
Chordoid glioma
Chordoid glioma, also called chordoid glioma of the third ventricle, is a rare WHO grade 2 astrocytic brain tumor of the anterior third ventricle, defined by the PRKCA D463H mutation and GFAP/TTF-1 co-expression, treated mainly by resection.
Chordoma
Chordoma, or notochordal sarcoma, is a rare malignant bone cancer of the skull base, spine, and sacrum arising from notochord remnants, marked by brachyury/TBXT expression, treated with surgery plus proton radiotherapy, with about 1 case per million yearly.
Chorea
Chorea, also known as chorea sancti viti, is a disorder of involuntary, rapid, irregular movements; Huntington's disease is the leading hereditary cause and Sydenham's chorea the leading childhood cause.
Choreiform disorders
Choreiform disorders (ICD-11 8A01) are movement disorders defined by chorea, abrupt irregular nonrepetitive involuntary movements. Causes include Huntington disease, Sydenham chorea, drugs, vascular, autoimmune, and metabolic conditions.
Choreoacanthocytosis
Choreoacanthocytosis (chorea-acanthocytosis, ChAc, VPS13A disease, formerly Levine-Critchley syndrome) is a rare autosomal recessive neurodegenerative disorder caused by VPS13A mutations, with chorea, orofacial dystonia with tongue biting, seizures, acanthocytes, and striatal atrophy.
Chorioretinal scars
Chorioretinal scars (ICD-11 9B62, ICD-10 H31.0) are fibrous scars in the choroid and retina from infection such as toxoplasmosis, laser photocoagulation, trauma, or inflammatory disease; vision is affected only when the macula is involved.
Choroid plexus carcinoma
Choroid plexus carcinoma (CPC), WHO grade 3 malignant choroid plexus tumor, rare aggressive pediatric brain tumor causing hydrocephalus; TP53/Li-Fraumeni linked; treated by resection plus chemotherapy.
Choroidal and ciliary body melanoma
Choroidal and ciliary body melanoma, also called posterior uveal melanoma, is the most common primary intraocular malignancy in adults, arising in the choroid (85–90%) or ciliary body (5–8%), treated mainly by plaque brachytherapy, proton therapy, or enucleation.
Choroidal degeneration
Choroidal degeneration (脈絡膜変性), ICD-11 code 9B60, is progressive atrophy of the choroid, the eye's vascular layer, covering hereditary forms such as choroideremia, gyrate atrophy, and central areolar choroidal dystrophy, plus age-related choroidal atrophy.
Choroidal detachment
Choroidal detachment: fluid or blood accumulating in the suprachoroidal space between choroid and sclera. Serous form follows surgical hypotony, most often after trabeculectomy; hemorrhagic form (suprachoroidal hemorrhage) follows ciliary artery rupture, with guarded vision.
Choroidal dystrophy
Choroidal dystrophy, also called choroidal dystrophies, is an inherited degenerative eye disorder of the choroid, RPE, and photoreceptors, including choroideremia, gyrate atrophy, and central areolar choroidal dystrophy, causing night blindness and peripheral vision loss.
Choroidal osteoma
Choroidal osteoma: rare benign ossifying choroidal tumor of mature bone, typically juxtapapillary, in young females (median age 20); diagnosed clinically with ultrasound and CT, managed by observation and anti-VEGF for neovascularization.
Christianson syndrome
Christianson syndrome, also known as X-linked Angelman-like syndrome, is a rare X-linked neurodevelopmental disorder caused by SLC9A6 mutations, causing severe intellectual disability, epilepsy, ataxia, and absent speech in males.