1,527 articles
Eyeball deformity
Eyeball deformity (ICD-11 9C22) covers abnormal globe size, shape, structure, or position: congenital anophthalmia, microphthalmia, buphthalmos, staphyloma, phthisis bulbi, enophthalmos, and proptosis.
Eyelid nystagmus
Eyelid nystagmus (lid nystagmus), ICD-11 9C84.6, is a rare slow rhythmic involuntary oscillation of the upper eyelids via the levator palpebrae, first described by Pick in 1916, occurring in convergence-evoked, gaze-evoked, and ocular-nystagmus-coupled forms linked to brainstem or cerebellar lesions.
Facial diplegia with paresthesias
Facial diplegia with paresthesias (bifacial weakness with paresthesias, FDP, BFP) is a rare Guillain-Barré syndrome variant with bilateral facial palsy, distal limb paresthesias, minimal weakness, and usually absent reflexes.
Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy
Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy, also called WOREE syndrome or EIEE28, is an autosomal recessive WWOX-related epileptic encephalopathy with infantile drug-resistant seizures, thin corpus callosum, microcephaly, and genotype-dependent survival.
Facial myokymia
Facial myokymia, also called eyelid myokymia in its commonest form, is fine rippling of facial nerve-innervated muscles; benign eyelid twitching is self-limited, while persistent unilateral rippling suggests brainstem tumor, multiple sclerosis, or Guillain-Barré syndrome.
Facial onset sensory and motor neuronopathy
FOSMN syndrome, facial onset sensory and motor neuronopathy, is a rare neurodegenerative disease first described by Vucic in 2006, starting with trigeminal facial numbness and progressing to bulbar and limb motor neuron dysfunction, likely a TDP-43 proteinopathy in the ALS-FTD spectrum.
Familial acute necrotizing encephalopathy
Familial acute necrotizing encephalopathy (ADANE, ANE1, IIAE3) is a rare autosomal dominant encephalopathy triggered by viral infection, caused mainly by RANBP2 missense mutations, with incomplete penetrance, recurrent episodes, and roughly one-third mortality.
Familial adult myoclonic epilepsy
Familial adult myoclonic epilepsy (FAME, BAFME, FCMTE) is a rare autosomal dominant epilepsy with cortical tremor and myoclonus from adolescence, caused by intronic TTTTA/TTTCA repeat expansions in six genes including SAMD12.
Familial advanced sleep-phase syndrome
Familial advanced sleep-phase syndrome (FASPS, now FASP) is a rare autosomal dominant circadian variant with very early sleep onset and offset and a short circadian period, caused by mutations in PER2, CSNK1D, PER3, TIMELESS, CRY2, and other clock genes.
Familial congenital mirror movements
Familial congenital mirror movements, also known as hereditary or isolated congenital mirror movements, is a rare inherited disorder where one hand involuntarily mirrors the other's movements.
Familial cortical myoclonus
Familial cortical myoclonus (FCM, OMIM 614937), a rare autosomal dominant adult-onset cortical myoclonus without seizures, linked to NOL3; distinct from FAME/BAFME/FCMTE epileptic syndromes caused by TTTTA/TTTCA repeat expansions.
Familial dysautonomia
Familial dysautonomia (Riley-Day syndrome, HSAN III) is a rare autosomal recessive sensory and autonomic neuropathy of Ashkenazi Jews, caused by an ELP1 founder mutation, present from birth with absent tears, autonomic crises, and reduced life expectancy.
Familial dyskinesia and facial myokymia
Familial dyskinesia and facial myokymia, also described as ADCY5-related dyskinesia, is a rare inherited disorder causing chorea, dystonia, and myoclonus of the limbs and face, usually starting in childhood and often persisting during sleep.
Familial encephalopathy with neuroserpin inclusion bodies
FENIB (familial encephalopathy with neuroserpin inclusion bodies, neuroserpinosis) is a rare autosomal dominant SERPINI1 dementia-epilepsy disease in which mutant neuroserpin polymers form Collins bodies in neurons; fewer than 20 cases reported.
Familial episodic pain syndrome
Familial episodic pain syndrome (FEPS) is a rare inherited nerve disorder causing recurrent intense pain episodes in the upper body or lower limbs, triggered by cold, fasting, or exertion.
Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR, Criswick-Schepens syndrome) is a rare hereditary retinal vascular disease causing incomplete peripheral retinal vascularization, inherited autosomal dominant, recessive, or X-linked, with FZD4, LRP5, NDP, and TSPAN12 mutations disrupting Norrin/Wnt signaling.
Familial focal epilepsy with variable foci
Familial focal epilepsy with variable foci (FFEVF, familial partial epilepsy with variable foci) is a rare autosomal dominant epilepsy in which different family members have focal seizures from different cortical regions, usually DEPDC5-related GATOR1/mTOR dysfunction with about 60% penetrance.
Familial infantile bilateral striatal necrosis
Familial infantile bilateral striatal necrosis (FBSN) is a rare inherited disorder causing degeneration of the basal ganglia, with developmental regression and dystonia beginning in infancy.
Familial isolated retinal arteriolar tortuosity
Familial isolated retinal arteriolar tortuosity, also called FRAT, is a rare autosomal dominant eye disease in which retinal arteries become progressively twisted, causing vision loss from exertion-triggered hemorrhages.
Familial mesial temporal lobe epilepsy
Familial mesial temporal lobe epilepsy (FMTLE) is an inherited epilepsy syndrome in which seizures arise from the temporal lobe's inner structures, often causing déjà vu.
Familial or sporadic hemiplegic migraine
Familial or sporadic hemiplegic migraine (FHM, SHM) is a rare migraine-with-aura subtype featuring reversible one-sided motor weakness; familial when a first- or second-degree relative is affected, sporadic otherwise, linked to CACNA1A, ATP1A2, and SCN1A.
Familial Parkinson disease
Familial Parkinson disease (ICD-11 8A00.01), hereditary form of PD, about 15% of cases have family history, 5-10% monogenic; caused by LRRK2, SNCA, PRKN, PINK1, PARK7 variants with dominant or recessive inheritance.
Familial paroxysmal ataxia
Familial paroxysmal ataxia, or episodic ataxia (EA), rare autosomal dominant channelopathies with recurrent cerebellar ataxia attacks; EA1 (KCNA1, myokymia) and EA2 (CACNA1A, nystagmus) most common; treated with acetazolamide and 4-aminopyridine.
Familial retinal arterial macroaneurysm
Familial retinal arterial macroaneurysm (FRAM), also called RAMSVPS, is a rare autosomal recessive disorder causing retinal artery aneurysms and pulmonic stenosis, first described in Saudi children in 2002 and caused by IGFBP7 mutations.
Familial temporal lobe epilepsy
Familial temporal lobe epilepsy (FTLE, FMTLE, ORPHA:98819) is a genetic focal epilepsy with benign déjà vu or autonomic seizures, adolescent onset, complex or autosomal dominant inheritance, normal MRI, and good drug response.
Fatigue
Fatigue: lack of energy and reduced physical or mental capacity, distinct from sleepiness (tendency to fall asleep). Classified as secondary, physiologic, or chronic; measured mainly by rating scales; treated with exercise, sleep hygiene, and cause-directed care.
Fatty acid hydroxylase-associated neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration (FAHN, SPG35) is a very rare autosomal recessive NBIA disorder caused by FA2H mutations, with childhood-onset dystonia, spastic paraplegia, ataxia, optic atrophy, and globus pallidus iron.
Febrile infection-related epilepsy syndrome
Febrile infection-related epilepsy syndrome (FIRES), also called AERRPS or DESC, is a rare NORSE-subtype epileptic encephalopathy: super-refractory status epilepticus begins 24 hours to 2 weeks after a febrile illness in previously healthy, mostly school-aged children, leaving drug-resistant epilepsy; incidence about 1 in 1,000,000.
Febrile seizure
Febrile seizure (febrile convulsion): a seizure triggered by fever (≥38°C) in children 6–60 months without CNS infection; affects 2–5% of children, recurs in 30–50%, benign prognosis, antipyretics do not prevent it.
Ferro-cerebro-cutaneous syndrome
Ferro-cerebro-cutaneous syndrome, also known as neurodevelopmental disorder with epilepsy and hemochromatosis, is a rare X-linked condition caused by PIGA gene mutations, with seizures, skin abnormalities, and body-wide iron overload beginning in infancy.