The phenotype in the proband was complex and seemed to represent an entity along the spectrum of a lower motor neuron syndrome and axonal neuropathy. Jerath et al. (2015) commented on the phenotypic variability associated with VCP mutations.
A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.
A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.
The findings were similar to those observed in Wiskott-Aldrich syndrome (WAS; 301000). Inheritance The transmission pattern of PLTEID in the families reported by Kahr et al. (2017) was consistent with autosomal recessive inheritance.
CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970).
Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.
The tenon's capsule may have inflammation from a disease called idiopathic orbital inflammation syndrome. [5] There is no history of trauma or adjacent focus of infection with this disease.
Use of the female hormones estrogen and progesterone during and after menopause has been shown to increase the risk of invasive lobular carcinoma. Inherited genetic cancer syndromes. Women with a rare inherited condition called hereditary diffuse gastric cancer syndrome have an increased risk of both stomach (gastric) cancer and invasive lobular carcinoma.
ISBN 0-8036-0194-8 . v t e Death In medicine Cell death Necrosis Avascular necrosis Coagulative necrosis Liquefactive necrosis Gangrenous necrosis Caseous necrosis Fat necrosis Fibrinoid necrosis Temporal lobe necrosis Programmed cell death AICD Anoikis Apoptosis Autophagy Intrinsic apoptosis Necroptosis Paraptosis Parthanatos Phenoptosis Pseudoapoptosis Pyroptosis Autolysis Autoschizis Eschar Immunogenic cell death Ischemic cell death Pyknosis Karyorrhexis Karyolysis Mitotic catastrophe Suicide gene Abortion Accidental death Autopsy Brain death Brainstem death Clinical death DOA Death by natural causes Death rattle Dysthanasia End-of-life care Euthanasia Lazarus sign Lazarus syndrome Medical definition of death Organ donation Terminal illness Unnatural death Lists Causes of death by rate Expressions related to death Natural disasters People by cause of death Premature obituaries Preventable causes of death Notable deaths by year Unusual deaths Mortality Birthday effect Child mortality Gompertz–Makeham law of mortality Infant mortality Karoshi Maternal death Maternal mortality in fiction Memento mori Micromort Mortality displacement Mortality rate RAMR Mortality salience Perinatal mortality After death Body Stages Pallor mortis Algor mortis Rigor mortis Livor mortis Putrefaction Decomposition Skeletonization Fossilization Preservation Cryopreservation Cryonics Neuropreservation Embalming Maceration Mummification Plastination Prosection Taxidermy Disposal Burial Natural burial Cremation Dismemberment Excarnation Promession Resomation Beating heart cadaver Body donation Cadaveric spasm Coffin birth Death erection Dissection Gibbeting Postmortem caloricity Post-mortem interval Other aspects Afterlife Cemetery Consciousness Customs Crematorium Examination Funeral Grief Intermediate state Internet Mourning Online mourning Obituary Vigil Paranormal Ghosts Near-death experience Near-death studies Necromancy Out-of-body experience Reincarnation research Séance Legal Abortion law Administration Capital punishment Cause of death Civil death Coroner Death-qualified jury Death certificate Declared death in absentia Death row Dying declaration Inquest Legal death Murder Necropolitics Prohibition of death Right to die Suspicious death Trust law Will Fields Forensic pathology Funeral director Mortuary science Necrobiology Post-mortem chemistry Post-mortem photography Taphonomy Biostratinomy Thanatology Other Apparent death Dark tourism Darwin Awards Death and culture Death anniversary Death anxiety Death deity Personification of death Dying-and-rising god Psychopomp Death camp Death drive Death education Death from laughter Death hoax Death knell Death march Death messenger Death notification Death panel Death poem Death pose Death-positive movement Death squad Death threat Death trajectory Dignified death Extinction Fan death Festival of the Dead Fascination with death Hierarchy of death Homicide Last rites Martyr Megadeath Museum of Death Necronym Necrophilia Necrophobia The Order of the Good Death Predation Sacrifice human Suicide Assisted suicide Thanatosensitivity The Goodbye Family Category Outline
PMID 11979456 . v t e Dyslexia and related specific developmental disorders Conditions Speech, language , and communication Expressive language disorder Infantile speech Landau–Kleffner syndrome Language disorder Lisp Mixed receptive-expressive language disorder Specific language impairment Speech and language impairment Speech disorder Speech error Speech sound disorder Stuttering Tip of the tongue Learning disability Dyslexia Dyscalculia Dysgraphia Disorder of written expression Motor Developmental coordination disorder Developmental verbal dyspraxia Sensory Auditory processing disorder Sensory processing disorder Related topics Dyslexia research Irlen filters Learning Ally Learning problems in childhood cancer Literacy Management of dyslexia Multisensory integration Neuropsychology Reading acquisition Spelling Writing system Lists Dyslexia in fiction Languages by Writing System People with dyslexia
The Amsler Grid showing the visual perception of the left eye of a person experiencing metamorphopsia (straight lines appear bent or curved) [1] [2] Initially characterized in the 1800’s, metamorphopsia was described as one of the primary and most notable indications of myopic and senile maculopathies . [3] Metamorphopsia can present itself as unbalanced vision, resulting from small unintentional movements of the eye as it tries to stabilize the field of vision. [3] Metamorphopsia can also lead to the misrepresentation of an object’s size or shape. [4] It is mainly associated with macular degeneration , particularly age-related macular degeneration with choroidal neovascularization . [5] Other conditions that can present with complaints of metamorphopsia include: pathological myopia , presumed ocular histoplasmosis syndrome , choroidal rupture and multifocal choroiditis . [5] Contents 1 Pathology 2 Causes of Metamorphopsia 3 Diagnosis 4 Treatment and Prognosis 5 Types 6 Etymology 7 See also 8 References Pathology [ edit ] The mechanisms that result in the development of metamorphopsia involve structural changes in the retina of the eye (retinal mechanism) as well as processing changes in the cerebral cortex of the brain (cortical mechanism). [6] The retinal mechanism involves the displacement of retinal layers which results in the mislocation of light on the retina. [6] The cortical mechanism, which was discovered after the retinal mechanism, is affected by perceptual “ filling-in ” and visual crowding effects. [6] The cortical mechanism was found to work in combination with the retinal mechanism to contribute to metamorphopsia in long-standing maculopathy or after the treatment of macular disorders. [3] Causes of Metamorphopsia [ edit ] Metamorphopsia can be a symptom of a number of eye disorders involving the retina or macula. [7] Some of these conditions include the following: Age-related macular degeneration [7] Epiretinal membrane and vitreomacular traction [7] Posterior vitreous detachment [7] Macular hole [7] Diagnosis [ edit ] Tests used for diagnosis of Metamorphopsia mostly make use of subjective assessments of how a person views regular patterns.
Between 10 and 20 percent of women with severe preeclampsia develop another potentially life-threatening complication called HELLP syndrome. HELLP stands for hemolysis (premature red blood cell breakdown), elevated liver enzyme levels, and low platelets (cells involved in blood clotting), which are the key features of this condition.
Clinical Features Fernandez et al. (2001) reported a 5-generation German family segregating an autosomal dominant syndrome of familial dyskinesia and facial myokymia (FDFM).
Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
ADCY5 -related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. These abnormal movements are often continuous during waking hours and may persist during sleep, resulting in disrupted sleep cycles. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5 -related dyskinesia is caused by changes (mutations) in the ADCY5 gene.