1,527 articles
Presbycusis
Presbycusis, or age-related hearing loss, is progressive bilateral sensorineural hearing loss from cochlear aging, causing high-frequency loss and poor speech discrimination in noise; managed with hearing aids and cochlear implants.
Primary angle closure glaucoma
Primary angle closure glaucoma (PACG), also called primary angle-closure glaucoma, is glaucoma with iris-trabecular meshwork angle obstruction plus optic nerve damage; pupillary block drives most cases, treated by laser iridotomy or lens extraction, affecting about 17 million people, mostly in Asia.
Primary angle-closure
Primary angle-closure disease (PACD), also called primary angle closure glaucoma spectrum, is iris obstruction of the trabecular outflow pathway, staged as PACS, PAC, and PACG, mainly caused by pupillary block and treated with laser peripheral iridotomy or lens extraction.
Primary basilar invagination
Primary basilar invagination (primary basilar impression, Bull-Nixon syndrome) is a rare congenital upward translocation of the upper cervical spine and clivus into the foramen magnum, autosomal dominant, often with Chiari I malformation, diagnosed by Chamberlain, McGregor, and McRae line criteria and treated surgically.
Primary congenital glaucoma
Primary congenital glaucoma (PCG), also called trabeculodysgenesis or primary infantile glaucoma, is a rare bilateral childhood glaucoma from trabecular meshwork malformation; treated surgically (goniotomy, trabeculotomy), linked to CYP1B1, LTBP2, TEK genes.
Primary dystonia
Primary dystonia, now termed isolated dystonia, is dystonia as the sole motor sign without brain lesion or exogenous cause; largely genetic (TOR1A/DYT1 ~30% penetrance), treated with botulinum toxin and pallidal DBS.
Primary dystonia, DYT13 type
Primary dystonia, DYT13 type (DYT13, OMIM 607671) is a rare autosomal dominant primary torsion dystonia mapped to chromosome 1p36.13–36.32 in an Italian family, with cranial-cervical or upper limb onset, mean onset age 16, mild course, gene unknown.
Primary dystonia, DYT2 type
Primary dystonia, DYT2 type (torsion dystonia 2, DYT-HPCA) is a rare autosomal recessive, childhood-onset isolated dystonia starting in distal limbs and spreading to craniocervical regions, linked to HPCA mutations but genetically unconfirmed, OMIM 224500.
Primary dystonia, DYT21 type
Primary dystonia, DYT21 type (DYT21, dystonia 21) is a rare autosomal dominant adult-onset pure torsion dystonia mapped to 2q14.3-q21.3, described in one Swedish family; gene unknown, penetrance about 75-90%.
Primary dystonia, DYT4 type
Primary dystonia, DYT4 type (DYT-TUBB4A, whispering dysphonia): rare autosomal dominant dystonia from TUBB4A mutations, marked by laryngeal dystonia, hobby horse gait, first described in an Australian family in 1985.
Primary dystonia, DYT6 type
Primary dystonia, DYT6 type (DYT6 dystonia, THAP1 dystonia) is an autosomal dominant isolated dystonia caused by THAP1 mutations, with onset averaging around 18 years, prominent cranial and cervical involvement, dysphonia, and reduced penetrance near 60%.
Primary erythromelalgia
Primary erythromelalgia (primary erythermalgia, Weir Mitchell disease) is a rare autosomal dominant neuropathy of burning, red, hot extremities caused by gain-of-function SCN9A mutations affecting the Nav1.7 sodium channel, with childhood onset and relief by cooling.
Primary malignant meningioma
Primary malignant meningioma is a WHO grade 3 meningioma, about 1% of cases, historically called anaplastic, with aggressive behavior and average survival of 2 to 3 years.
Primary melanoma of the central nervous system
Primary melanoma of the CNS, also called malignant melanoma of the meninges, is an ultra-rare meningeal tumor arising from leptomeningeal melanocytes, diagnosed only when no melanoma exists outside the CNS; GNAQ/GNA11-mutated, 0.07% of intracranial tumors.
Primary orthostatic tremor
Primary orthostatic tremor (POT, shaky legs syndrome) is a rare tremor disorder with a high-frequency (>12 Hz, typically 13-18 Hz) tremor when standing, relieved by sitting or walking, diagnosed by surface EMG, treated with clonazepam or perampanel.
Primary progressive apraxia of speech
Primary progressive apraxia of speech (PPAOS) is a neurodegenerative tauopathy in which apraxia of speech is the first or only symptom, distinct from primary progressive aphasia, linked to PSP and corticobasal degeneration.
Primary progressive freezing gait
Primary progressive freezing gait (PPFG), also called primary progressive freezing of gait, is a rare adult-onset neurodegenerative syndrome with freezing of gait within 3 years, later falls and wheelchair dependence, unresponsive to levodopa, and caused by diverse pathologies including PSP and pallidonigroluysian degeneration.
Primary progressive multiple sclerosis
Primary progressive multiple sclerosis (PPMS) is a form of multiple sclerosis that worsens gradually from onset, without prominent relapses, affecting roughly 10 to 15 percent of people with MS.
Primary syringomyelia
Primary syringomyelia, also called congenital syringomyelia (ICD-11 LA07.3), is a rare developmental malformation with a fluid-filled syrinx inside the spinal cord, causing cape-like pain and temperature loss and upper-limb-predominant weakness.
Prodrome
Prodrome: the earliest phase of a migraine attack, also called the premonitory phase, lasting up to 48 hours before headache pain or aura, with symptoms such as fatigue, mood change, neck stiffness, and food cravings.
Progressive bifocal chorioretinal atrophy
Progressive bifocal chorioretinal atrophy (PBCRA, CRAPB; OMIM 600790) is a rare autosomal dominant chorioretinal dystrophy on chromosome 6q near PRDM13, with congenital macular and nasal atrophic foci, nystagmus, myopia, and progressive vision loss.
Progressive cavitating leukoencephalopathy
Progressive cavitating leukoencephalopathy (PCL), also called progressive cavitational leukoencephalopathy, is a rare autosomal recessive childhood leukodystrophy first described by Naidu in 2005, marked by episodic neurological deterioration, cavitating white-matter lesions on MRI, and no curative treatment.
Progressive cerebello-cerebral atrophy
Progressive cerebello-cerebral atrophy (PCCA, ORPHA:247198, OMIM 615851) is an autosomal recessive disorder with postnatal developmental delay, microcephaly, spastic quadriplegia, seizures, and cerebellar then cerebral atrophy without pontine involvement; caused by SEPSECS (PCCA1) or VPS53 (PCCA2) mutations.
Progressive cone dystrophy
Progressive cone dystrophy (ORPHA:1871, ICD-10 H35.5) is a rare inherited retinal disease, prevalence about 1 in 30,000-40,000, causing progressive central and color vision loss from cone degeneration, with genes including GUCA1A, PRPH2, ABCA4, RPGR, GUCY2D, CRX, and CNGA3.
Progressive deafness with stapes fixation
Progressive deafness with stapes fixation (ORPHA:3235, stapediovestibular ankylosis, Thies-Reis syndrome): childhood-onset, autosomal recessive conductive hearing loss from stapes immobilization, mainly in otosclerosis, also tympanosclerosis, Paget's disease, and osteogenesis imperfecta.
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive encephalopathy with leukodystrophy due to DECR deficiency (2,4-dienoyl-CoA reductase deficiency, DECRD, OMIM 616034) is an ultra-rare autosomal recessive mitochondrial disease from NADK2 loss of function, causing neonatal hypotonia, leukodystrophy, lactic acidosis, hyperlysinemia, and elevated C10:2 carnitine.
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome (PELD, Celia's encephalopathy, ORPHA:363400, MIM 615924) is a fatal autosomal recessive BSCL2/seipin disorder of infancy with psychomotor regression, refractory epilepsy, and variable lipodystrophy.
Progressive multifocal leukoencephalopathy
Progressive multifocal leukoencephalopathy (PML), JC virus (JCPyV) demyelinating brain disease of immunocompromised people; AIDS-defining, linked to natalizumab, no antiviral treatment, high mortality.
Progressive myoclonic epilepsy type 1
Progressive myoclonic epilepsy type 1, or Unverricht-Lundborg disease (EPM1), is a rare autosomal recessive epilepsy beginning at 6-15 years, caused by CSTB dodecamer repeat expansions, with stimulus-sensitive myoclonus, tonic-clonic seizures, ataxia, and mild cognitive decline.
Progressive myoclonic epilepsy type 3
Progressive myoclonic epilepsy type 3 (EPM3, CLN14 disease) is a rare autosomal recessive epilepsy from KCTD7 mutations on 7q11.21, causing infantile myoclonic seizures, regression, ataxia, and often early death.