Nervous and sensory conditions

Progressive myoclonic epilepsy type 5

Progressive myoclonic epilepsy type 5 (EPM5, PME type 5, OMIM 607459) is an ultra-rare genetic epilepsy with early progressive ataxia, myoclonic and sleep-related tonic-clonic seizures, and preserved to mildly impaired cognition; PRICKLE1 mutations reported.

Progressive myoclonic epilepsy type 6

Progressive myoclonic epilepsy type 6 (EPM6, North Sea PME, GOSR2-related progressive myoclonus ataxia) is an ultra-rare autosomal recessive epilepsy caused by GOSR2 mutations, with childhood ataxia, myoclonic seizures, scoliosis, elevated creatine kinase, and preserved cognition.

Progressive myoclonic epilepsy type 7

Progressive myoclonic epilepsy type 7 (EPM7, OMIM 616187), also called MEAK, is a rare genetic disorder with severe progressive myoclonus, ataxia, and seizures beginning in childhood or adolescence.

Progressive myoclonic epilepsy type 8

Progressive myoclonic epilepsy type 8 (EPM8, OMIM 616230) is an ultra-rare autosomal recessive epilepsy caused by CERS1 mutations at 19p13.11, with childhood-onset action myoclonus, tonic-clonic seizures, cognitive decline, and cerebellar atrophy.

Progressive myoclonic epilepsy with dystonia

Progressive myoclonic epilepsy with dystonia (PMED, OMIM 615338) is a rare autosomal recessive TBC1D24-related epilepsy syndrome with neonatal or early infantile onset of treatment-refractory myoclonic seizures and persistent dystonia; prevalence under 1 in 1,000,000.

Prosopagnosia

Prosopagnosia, or face blindness, is difficulty recognizing facial identity despite normal vision. It occurs as acquired (stroke, head injury, Alzheimer's) or developmental forms affecting about 2% of people, often hereditary, with no treatment but compensatory strategies.

Pseudo-TORCH syndrome type 1

Pseudo-TORCH syndrome type 1 (PTORCH1, BLC-PMG, Baraitser-Reardon syndrome) is an autosomal recessive OCLN-related disorder mimicking congenital TORCH infection, with microcephaly, band-like intracranial calcification, polymicrogyria, and intractable seizures.

Pseudobulbar affect

Pseudobulbar affect (PBA), also called pathological laughing and crying or emotional incontinence, is a neurological syndrome of sudden involuntary crying or laughing incongruent with mood, occurring in ALS, MS, stroke, TBI, and dementias; treated with dextromethorphan/quinidine.

Pseudobulbar palsy

Pseudobulbar palsy, also called supranuclear bulbar paralysis, is a syndrome from bilateral corticobulbar tract lesions causing spastic dysarthria, dysphagia, brisk jaw jerk, and pseudobulbar affect, seen in stroke, ALS, MS, and Parkinson's disease.

Pseudoexfoliative open-angle glaucoma

Pseudoexfoliative open-angle glaucoma (PXG, PEXG, exfoliative glaucoma): secondary open-angle glaucoma from pseudoexfoliation material obstructing the trabecular meshwork; more aggressive than POAG, needing earlier surgery.

Pudendal nerve entrapment syndrome

Pudendal nerve entrapment syndrome is a rare chronic neuropathic pain condition caused by compression or irritation of the pudendal nerve, most often in Alcock's canal, with pain typically worsened by sitting.

Punctal stenosis

Punctal stenosis, or acquired lacrimal punctum stenosis, is narrowing or occlusion of the tear-drainage opening on the eyelid margin, causing epiphora. Defined as punctum under 0.3 mm; main causes are chronic blepharitis, ectropion, and medications; treated by punctoplasty or stenting.

Punctate inner choroidopathy

Punctate inner choroidopathy (PIC), also called punctate inner choroiditis, is a rare idiopathic inflammatory eye disease of the inner choroid and retina, affecting young myopic women, often complicated by choroidal neovascularization and vision loss.

Pure autonomic failure

Pure autonomic failure (Bradbury-Eggleston syndrome, PAF) is a rare sporadic alpha-synucleinopathy causing neurogenic orthostatic hypotension from postganglionic sympathetic degeneration, with low supine norepinephrine and about 5% yearly phenoconversion to Parkinson's, MSA, or Lewy body dementia.

Radiation retinopathy

Radiation retinopathy, also called radiation-induced retinopathy, is a progressive occlusive retinal vasculopathy after ocular or periocular radiotherapy, most often plaque brachytherapy for uveal melanoma, causing ischemia, macular edema, and vision loss.

Radiation-induced brain injury

Radiation-induced brain injury (ICD-11 8E61.0), also called post-radiation brain injury or cerebral radionecrosis, is brain damage from therapeutic cranial irradiation, divided into acute, early-delayed, and late-delayed syndromes, causing cognitive impairment and necrosis in long-term survivors.

Radiation-induced plexopathy

Radiation-induced plexopathy (RIBP, RILSP) is rare progressive damage to the brachial or lumbosacral nerve plexus after cancer radiotherapy, appearing months to decades later; typically painless, often bilateral, with fibrosis and no proven disease-modifying treatment.

Ramos-Arroyo syndrome

Ramos-Arroyo syndrome, also called corneal anesthesia-deafness-intellectual disability syndrome, is an extremely rare autosomal dominant disorder combining corneal anesthesia, hearing loss, intellectual disability, and heart defects.

Ramsay Hunt syndrome type 2

Ramsay Hunt syndrome type 2, or herpes zoster oticus, is facial paralysis with an ear rash from reactivation of varicella-zoster virus in the geniculate ganglion; second most common facial palsy after Bell's palsy, treated with antivirals and steroids.

Rapid-onset dystonia-parkinsonism

Rapid-onset dystonia-parkinsonism (RDP, DYT12, DYT/PARK-ATP1A3) is a very rare autosomal dominant movement disorder from ATP1A3 mutations, causing abrupt stress-triggered dystonia and parkinsonism with onset ages 4-55.

Rasmussen syndrome

Rasmussen syndrome (Rasmussen encephalitis) is a rare progressive inflammatory brain disease of one hemisphere, first described in 1958, causing drug-resistant focal seizures, hemiparesis, and cognitive decline, treated by immunotherapy and hemispheric disconnection.

Receptive aphasia

Receptive aphasia, also called Wernicke's or sensory aphasia, is a fluent aphasia with impaired comprehension, naming, and repetition, caused by damage to Wernicke's area in the left temporal lobe, first described by Carl Wernicke in 1874.

Recurrent cholesteatoma of postmastoidectomy cavity

Recurrent cholesteatoma of postmastoidectomy cavity is the regrowth of cholesteatoma, a skin tissue growth behind the ear, in the mastoid cavity remaining after surgery; recurrence reaches 39% at 15 years.

Recurrent erosion of cornea

Recurrent corneal erosion (RCE, recurrent erosion syndrome): repeated breakdown of the corneal epithelium causing sharp morning eye pain, usually after prior trauma (45–64% of cases) or epithelial basement membrane dystrophy; treated with lubricants, bandage lenses, and surgery.

Recurrent isolated sleep paralysis

Recurrent isolated sleep paralysis (RISP), also called fearful isolated sleep paralysis, is a REM parasomnia of repeated waking paralysis at sleep onset or offset. Coded ICSD-3 G47.51 and ICD-11 7B01.1; lifetime sleep paralysis prevalence 7.6% general population; treated with CBT, sleep hygiene, REM-suppressing antidepressants.