The patient was an 11-year-old girl with onset of seizures at the age of 18 months and followed by progressive intellectual disability (ID) later.
[ncbi.nlm.nih.gov]
Milder cases of progressive intellectual disability can sometimes be traced to economic and environmental deprivation early in childhood—conditions that are associated with
[britannica.com]
Praise for the 11th Edition “The 11th edition of the AAIDD Definition Manual continues our progress in both describing a person with an intellectual disability in several
[aaidd.org]
The spasticity and dystonia were progressive and disabling enough to restrict him to a wheelchair. His speech deteriorated, and he gradually stopped talking.
[cmaj.ca]
His parents also observed an intellectual decline.
[cmaj.ca]
However a high unmet medical need exists as around two thirds of patients have central nervous system disease, with progressive intellectual disability.
[efpia.eu]
[…] towards profound intellectual disability.
[patient.info]
In the neuronopathic form of the disease (formerly called early progressive more severe form), intellectual disabilities may be apparent in the early life of the patient.
[rarediseases.org]
It affects infants and is characterized by intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.
[msdmanuals.com]
This disease affects infants and causes intellectual disability, paralysis, blindness, deafness, and paralysis of certain facial muscles (called pseudobulbar palsy), progressing
[merckmanuals.com]
Krabbe disease is a sphingolipidosis, an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing
[msdmanuals.com]
intellectual and physical disability, death before age 15 Treatment: Enzyme replacement (idursulfase), supportive care, stem cell or bone marrow transplantation MPS III
[msdmanuals.com]
Furthermore, psychiatric disturbances and the progressive loss of memory and intellectual ability (dementia) can develop.
[rarediseases.org]
[…] epilepsy with intellectual disability (600143*) Transmembrane CLN8 protein CLN9 (609055*) — * For complete gene, molecular, and chromosomal location information, see the
[msdmanuals.com]
Later signs of the illness include difficulty controlling muscle movements, impaired speech, developmental disability, and intellectual deficits.
[disability-benefits-help.org]
The initial symptoms are usually nystagmus (jerking, involuntary eye movements) and low muscle tone which typically progresses quickly into frequent muscle spasms.
[disability-benefits-help.org]
Speech becomes slurred, and muscles progressively weaken, leading to severe disability. Intellectual disability may develop and progress.
[msdmanuals.com]
Progressive deterioration of motor function leads to serious disability by age 10 years. Intellectual impairment, if present, is usually mild.
[aao.org]
This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression).
[ghr.nlm.nih.gov]
Additional clinical symptoms include intellectual disability, progressive neurologic symptoms including aggressive behavior, poor coordination, seizures and hearing loss.
[genedx.com]
All forms of Sanfilippo syndrome are characterized by varying degrees of intellectual disability, progressive loss of previously acquired skills (e.g., language), and hearing
[rarediseases.org]
Early psychomotor development may be normal, however individuals with severe MPS I usually show progressive intellectual disability.
[invitae.com]
Early development in children with severe MPS I may be normal; however, developmental delays and varying degrees of progressive intellectual disability ensue secondary to
[medicalhomeportal.org]
[…] epilepsy-intellectual disability syndrome, Finnish type Progressive external ophthalmoplegia-myopathy-emaciation syndrome Progressive myoclonic epilepsy type 3 Proximal tubulopathy-diabetes
[se-atlas.de]
Fucosidosis is an extremely rare disorder first described in 1962 in two Italian siblings who showed progressive intellectual disability and neurological deterioration.
[en.wikipedia.org]
Typical clinical features, as described in decreasing order of frequency in one relatively large case series, include 1,2 : progressive intellectual disability with eventual
[radiopaedia.org]
A lysosomal storage disease characterized by the accumulation of fucose-containing glycolipids and glycoproteins in the tissues, resulting in intellectual disability, skeletal
[medical-dictionary.thefreedictionary.com]
Progressive intellectual disability results if PKU is not treated from early infancy. With treatment, children with PKU can grow and develop normally.
[betterhealth.vic.gov.au]
Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products.
[yourdictionary.com]
Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products. phen
[medical-dictionary.thefreedictionary.com]
Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products. phen
[medical-dictionary.thefreedictionary.com]
Beginning at 6 months of age, children become progressively intellectually disabled and blindness develops.
[merckmanuals.com]
intellectual disability, paralysis, and death by age 5 years.
[merckmanuals.com]
Children with this disease start missing developmental milestones after 6 months of age and become progressively intellectually disabled, meaning that intellectual disability
[merckmanuals.com]
[…] cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity
[ncbi.nlm.nih.gov]
Affected individuals often have disproportional long extremities, joint contracture, intellectual disability, and progressive neurodegeneration leading to death, usually around
[frontiersin.org]
[…] or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive
[ncbi.nlm.nih.gov]
Pick your prefered accent: Translation Find a translation for the diffuse cerebral sclerosis of schilder synonyms in other languages: Select another language: - Select - 简体中文 (Chinese - Simplified) 繁體中文 (Chinese - Traditional) Español (Spanish) Esperanto (Esperanto) 日本語 (Japanese) Português (Portuguese) Deutsch[…]
[synonyms.com]
Neuroradiol J. 2016 Feb;29(1):57-60. doi: 10.1177/1971400915621323. Epub 2016 Feb 2. Author information 1 Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, USA. 2 Department of Neurology,[…]
[ncbi.nlm.nih.gov]
It is different from the Richards-Rundle syndrome, although both share the ataxia, deafness, and intellectual disability.
[cags.org.ae]
[…] with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.
[ncbi.nlm.nih.gov]
disability or dementia) and ketoaciduria.Visit the Orphanet disease page for more resources.
[malacards.org]
This results in severe progressive intellectual disability, if untreated by diet [ 8 ]. Newborn screening for PKU has been performed by heel prick since 1969.
[patient.info]
Patients with this disease are predisposed to neurologic symptoms including cognitive deficits, seizures and spasticity, loss of ambulation, and severe intellectual disability
[aegleabio.com]
Although the medical literature suggests that disease progression can be slowed with strict adherence to dietary protein restriction, there is no approved therapeutic agent
[aegleabio.com]
Chronic exposure, which is more common, is characterized by cognitive impairment and intellectual disability.
[symptoma.com]
[…] of acute poisoning, where large concentrations of lead are seen in the circulation, encephalopathy, cerebral edema, vomiting, seizures and altered mental status that may progress
[symptoma.com]
Contributors and Participants Preface Acknowledgments Morphologic Studies 1. Biopsy Diagnosis of Neurologic Diseases in Children with Emphasis on the Lipidoses 2. Pathogenesis of White Matter Changes in Tay-Sachs' Disease 3. On the Pigment Variant of Amaurotic Idiocy 4. Electron Microscopy of the Cerebrum in[…]
[elsevier.com]
Two infants with congenital syphilis and persistent hypoglycemia were found to have hypopituitarism. Hypopituitarism should be recognized as a potential complication of congenital syphilis; affected infants with persistent hypoglycemia should receive a prompt evaluation of pituitary function.
[ncbi.nlm.nih.gov]
Subacute sclerosing panencephalitis is a devastating progressive degenerative disease of the nervous system presumably caused by a persistent measles virus. Patients commonly present with myoclonia or encephalopathy. There are currently no known curative therapeutic options or effective symptomatic therapy. We[…]
[ncbi.nlm.nih.gov]
Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual disability, an increased proportion of
[dbpedia.org]
Facets (new session) Description Metadata Settings Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital hypotonia, severe intellectual
[dbpedia.org]
Orpha Number: 3010 Definition A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor
[malacards.org]
Aspartylglucosaminuria is a rare autosomal recessive lysosomal storage disorder leading early to a progressive intellectual disability.
[ncbi.nlm.nih.gov]
The progression of intellectual disability is slow at first but increases with age.
[genedx.com]
Progressive intellectual disability. Seizures. Psychiatric problems. Skeletal problems (such as scoliosis, osteoporosis, or protrusion or depression of the breastbone).
[cigna.com]
generalized tonic-clonic seizures, slowly progressive ataxia, and mild intellectual dysfunction.
[medlink.com]
Myoclonic seizures, the main disabling symptoms, are severe and continuous and tend to be triggered by movement, stress, and sensory stimuli. • It is caused mainly by homozygous
[medlink.com]
Key points • Unverricht-Lundborg disease (EPM1) is an autosomal recessive progressive myoclonic epilepsy. • It manifests with action and stimulus-sensitive myoclonic jerks
[medlink.com]
Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition.
[ghr.nlm.nih.gov]
disability Label.
[drugbank.ca]
Additional clinical symptoms include intellectual disability, progressive neurologic symptoms including aggressive behavior, poor coordination, seizures and hearing loss.
[genedx.com]
This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and progressive intellectual disability.
[ismrd.org]
Furthermore, psychiatric disturbances and the progressive loss of memory and intellectual ability (dementia) can develop.
[rarediseases.org]
During this time, affected individuals may also develop slowly progressive impairment of intellectually ability (cognitive impairment) that can initially be mistaken for learning
[rarediseases.org]
Intellectual disability, progressive MedGen UID: 337397 • Concept ID: C1846149 • Finding The term progressive intellectual disability should be used if intelligence decreases
[ncbi.nlm.nih.gov]
disability, progressive Peripheral neuropathy Elevated serum creatine phosphokinase Proximal muscle weakness Athetosis Specific learning disability Epileptic encephalopathy
[mendelian.co]
[…] disturbance in cerebral function, e.g. developmental delay and intellectual disability.
[centogene.com]
