1,527 articles
Worster-Drought syndrome
Worster-Drought syndrome, or congenital suprabulbar paresis, is a cerebral palsy variant, described by Cecil Worster-Drought in 1956, that weakens the mouth and throat muscles from birth.
X-linked Charcot-Marie-Tooth disease type 1
CMT1X, also CMTX1, is an X-linked dominant Charcot-Marie-Tooth neuropathy caused by GJB1 (connexin 32) mutations at Xq13.1; males show distal weakness from ages 5-25, females milder disease.
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 2 (CMTX2, OMIM 302801) is an extremely rare X-linked recessive axonal peripheral neuropathy mapped to Xp22.2 with no identified gene, causing infantile-to-childhood-onset distal weakness, pes cavus, areflexia, and sometimes intellectual disability.
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 3 (CMTX3, CMT3X, OMIM 302802) is a rare X-linked recessive peripheral sensorimotor neuropathy caused by a 78 kb insertion from chromosome 8q24.3 into Xq27.1, with childhood-onset distal weakness, sensory loss, and pes cavus.
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 4 (CMTX4, CMT4X, Cowchock syndrome) is a rare X-linked recessive AIFM1-related mitochondrial axonal neuropathy of males, with distal weakness, deafness, and cognitive impairment.
X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5, CMT5X, Rosenberg-Chutorian syndrome) is a rare X-linked recessive PRPS1-related neuropathy combining distal weakness, prelingual deafness, and optic neuropathy.
X-linked Charcot-Marie-Tooth disease type 6
CMTX6 (X-linked Charcot-Marie-Tooth disease type 6, CMT6X) is a rare X-linked dominant axonal neuropathy caused by PDK3 mutations at Xp22.11, with childhood onset, pes cavus, and males more severely affected than carrier females.
X-linked cone dysfunction syndrome with myopia
X-linked cone dysfunction syndrome with myopia, better known as Bornholm eye disease, is a rare X-linked recessive retinal disorder causing high myopia, astigmatism, and red-green color blindness, first described in a Danish family.
X-linked creatine transporter deficiency
X-linked creatine transporter deficiency, also called SLC6A8 deficiency, is an inherited metabolic disorder in which cells cannot take up creatine, causing intellectual disability, speech delay, and seizures mainly in boys.
X-linked distal spinal muscular atrophy type 3
X-linked distal spinal muscular atrophy type 3, also called ATP7A-related distal motor neuropathy, is a rare inherited motor nerve disorder causing slow wasting of hand and foot muscles.
X-linked dystonia-parkinsonism
X-linked dystonia-parkinsonism (XDP, DYT3, Lubag) is an X-linked recessive neurodegenerative movement disorder of TAF1 with an SVA retrotransposon insertion, affecting mainly Filipino men of Panay descent with adult-onset dystonia and parkinsonism.
X-linked hereditary spastic paraplegia
X-linked hereditary spastic paraplegia (SPG, ICD-11 8B44.02): HSP form inherited on the X chromosome, mainly PLP1 (Xq22) and GJC2/connexin 47 mutations, causing corticospinal tract axon degeneration and lower limb spasticity.
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Pettigrew syndrome, first reported in 1991, is a rare X-linked recessive disorder caused by AP1S2 variants, causing intellectual disability, seizures, spasticity, and basal ganglia iron deposition.
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome, also known as PPM-X or Lindsay-Burn syndrome, is a rare X-linked disorder from MECP2 mutations, marked by intellectual disability, psychosis, and enlarged testes.
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Cabezas type (Cabezas syndrome, MRXS15, OMIM 300354) is a rare X-linked recessive disorder caused by CUL4B mutations on Xq24, causing intellectual disability, severe speech impairment, short stature, hypogonadism, tremor, and seizures.
X-linked intellectual disability, Shrimpton type
X-linked intellectual disability, Shrimpton type (MRXS9, OMIM 300709, ORPHA:85324): a rare X-linked recessive syndrome with severe intellectual disability, microcephaly, short stature, strabismus, and spastic diplegia in males; gene mapped to Xq12-q21.31 but not identified.
X-linked intellectual disability, Snyder type
X-linked intellectual disability, Snyder type (Snyder-Robinson syndrome, SRS): rare X-linked recessive disorder from SMS spermine synthase loss, causing hypotonia, osteoporosis, kyphoscoliosis, seizures, and intellectual disability in males only.
X-linked lissencephaly with abnormal genitalia
X-linked lissencephaly with abnormal genitalia (XLAG, LISX2, OMIM 300215) is a rare X-linked recessive ARX-gene disorder of males with lissencephaly, corpus callosum agenesis, neonatal intractable epilepsy, ambiguous genitalia, and death in early childhood; carrier females are milder or unaffected.
X-linked recessive ocular albinism
X-linked recessive ocular albinism (XLOA, OA1, Nettleship-Falls type) is a rare GPR143-related X-linked disorder causing nystagmus, foveal hypoplasia, photodysphoria, and reduced visual acuity in males with normal skin and hair pigmentation.
X-linked retinoschisis
X-linked retinoschisis (XLRS, X-linked juvenile retinoschisis), an inherited retinal disease from RS1 mutations causing retinal layer splitting in males; X-linked recessive, onset in childhood, stable vision then later decline, gene therapy trials ongoing.
X-linked spastic paraplegia type 16
X-linked spastic paraplegia type 16 (SPG16, OMIM 300266) is a rare X-linked recessive hereditary spastic paraplegia mapped to Xq11.2 with the gene unknown, causing infantile-onset spasticity, inability to walk, quadriplegia, motor aphasia, and intellectual disability in males only.
XK aprosencephaly syndrome
XK aprosencephaly syndrome (Garcia-Lurie syndrome, XK syndrome) is an extremely rare autosomal recessive cerebral malformation with absence of the telencephalon and diencephalon, oculo-facial anomalies, limb defects, and anal atresia; OMIM 207770.
Xp22.13p22.2 duplication syndrome
Xp22.13p22.2 duplication syndrome is a rare X-linked disorder caused by an extra copy of DNA on the X chromosome, causing intellectual disability in males; female carriers have normal intelligence.
You're Not You
You're Not You is a 2014 drama directed by George C. Wolfe, adapted from Michelle Wildgen's 2006 novel, starring Hilary Swank as Kate, a pianist with ALS, and Emmy Rossum as her caregiver Bec; released October 10, 2014, 52% Tomatometer.
Young-onset Parkinson disease
Young-onset Parkinson disease (YOPD), also called early-onset Parkinson's disease, is Parkinson's disease beginning between ages 21 and 40, with stronger genetic contribution, slower progression, and earlier levodopa-induced dyskinesia than late-onset PD.
Zavegepant
Zavegepant (Zavzpret) is a Pfizer CGRP receptor antagonist nasal spray approved by FDA March 9, 2023 for acute migraine with or without aura in adults; 10 mg single spray, ~5% bioavailability, NNT 11 for 2-hour pain freedom.
ZTTK syndrome
ZTTK syndrome, also called Zhu-Tokita-Takenouchi-Kim or SON-related neurodevelopmental disorder, is a rare autosomal dominant disorder from de novo SON (21q22.11) loss-of-function variants, causing developmental delay, intellectual disability, hypotonia, seizures, facial dysmorphism, and brain, eye, skeletal, and heart-kidney anomalies.