Still's Disease, Adult-Onset: Systemic-onset rheumatoid arthritis in adults. It differs from classical rheumatoid arthritis in that it is more often marked by acute febrile onset, and generalized lymphadenopathy and hepatosplenomegaly are more prominent.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Dystonia Musculorum Deformans: A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Dystonia: An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)Mastocytoma, Skin: A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.Epilepsy, Tonic-Clonic: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)Morbillivirus: A genus of the family PARAMYXOVIRIDAE (subfamily PARAMYXOVIRINAE) where the virions of most members have hemagglutinin but not neuraminidase activity. All members produce both cytoplasmic and intranuclear inclusion bodies. MEASLES VIRUS is the type species.Epilepsies, Myoclonic: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).Muscle Cramp: A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)HLA-B39 Antigen: A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*39 allele family.Torticollis: A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.Hexosaminidase A: A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.Epilepsy, Generalized: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)Myotonic Dystrophy: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.Syndrome: A characteristic symptom complex.Pantothenate Kinase-Associated Neurodegeneration: A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Arthritis, Juvenile: Arthritis of children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.Coma: A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Oxazoles: Five-membered heterocyclic ring structures containing an oxygen in the 1-position and a nitrogen in the 3-position, in distinction from ISOXAZOLES where they are at the 1,2 positions.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Muscular Diseases: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.Dermatomyositis: A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)Myositis: Inflammation of a muscle or muscle tissue.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Huntington Disease: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Electroencephalography: Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Epigenesis, Genetic: A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Delayed Diagnosis: Non-optimal interval of time between onset of symptoms, identification, and initiation of treatment.Alzheimer Disease: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Early Diagnosis: Methods to determine in patients the nature of a disease or disorder at its early stage of progression. Generally, early diagnosis improves PROGNOSIS and TREATMENT OUTCOME.Cerebellar Ataxia: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Infant, Newborn: An infant during the first month after birth.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Ornithine Carbamoyltransferase Deficiency Disease: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Diagnosis: The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Osteochondrosis: Any of a group of bone disorders involving one or more ossification centers (EPIPHYSES). It is characterized by degeneration or NECROSIS followed by revascularization and reossification. Osteochondrosis often occurs in children causing varying degrees of discomfort or pain. There are many eponymic types for specific affected areas, such as tarsal navicular (Kohler disease) and tibial tuberosity (Osgood-Schlatter disease).Predictive Value of Tests: In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Heterozygote Detection: Identification of genetic carriers for a given trait.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Labor Onset: The beginning of true OBSTETRIC LABOR which is characterized by the cyclic uterine contractions of increasing frequency, duration, and strength causing CERVICAL DILATATION to begin (LABOR STAGE, FIRST ).Sural Nerve: A branch of the tibial nerve which supplies sensory innervation to parts of the lower leg and foot.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Incidence: The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Myelin P0 Protein: A protein that accounts for more than half of the peripheral nervous system myelin protein. The extracellular domain of this protein is believed to engage in adhesive interactions and thus hold the myelin membrane compact. It can behave as a homophilic adhesion molecule through interactions with its extracellular domains. (From J Cell Biol 1994;126(4):1089-97)Fatal Outcome: Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.Spinocerebellar Degenerations: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.Homozygote: An individual in which both alleles at a given locus are identical.Diagnostic Errors: Incorrect diagnoses after clinical examination or technical diagnostic procedures.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.Sepsis: Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.Cerebrospinal Fluid Otorrhea: Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)Intensive Care Units, Neonatal: Hospital units providing continuing surveillance and care to acutely ill newborn infants.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Charcot-Marie-Tooth Disease: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)Acute Disease: Disease having a short and relatively severe course.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Leukodystrophy, Metachromatic: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.Neuromuscular Diseases: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.Longitudinal Studies: Studies in which variables relating to an individual or group of individuals are assessed over a period of time.Diagnosis, Computer-Assisted: Application of computer programs designed to assist the physician in solving a diagnostic problem.Recurrence: The return of a sign, symptom, or disease after a remission.Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)Diabetes Mellitus, Type 1: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.Apolipoprotein E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.Glucose Metabolism Disorders: Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM.Brain Diseases: Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.Parkinson Disease: A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)National Institute on Aging (U.S.): Component of the NATIONAL INSTITUTES OF HEALTH. Through basic and clinical biomedical research and training, it conducts and supports research into the nature of the aging process and diseases associated with the later stages of life. The Institute was established in 1974.Infant, Premature, DiseasesNursing Diagnosis: Conclusions derived from the nursing assessment that establish a health status profile for the patient and from which nursing interventions may be ordered.Neuropsychological Tests: Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.United StatesExons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Gestational Age: The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Comorbidity: The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival.Cross-Sectional Studies: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Tremor: Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.Dementia: An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.Adrenal Hyperplasia, Congenital: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.Preimplantation Diagnosis: Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.Gangliosidoses: A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Muscular Dystrophies: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.Infant, Very Low Birth Weight: An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age.Agammaglobulinemia: An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Postoperative Complications: Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)Pre-Eclampsia: A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.Electromyography: Recording of the changes in electric potential of muscle by means of surface or needle electrodes.Streptococcus agalactiae: A bacterium which causes mastitis in cattle and occasionally in man.Infant, Premature: A human infant born before 37 weeks of GESTATION.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.JapanNervous System Diseases: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.Nerve Degeneration: Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.Cystitis: Inflammation of the URINARY BLADDER, either from bacterial or non-bacterial causes. Cystitis is usually associated with painful urination (dysuria), increased frequency, urgency, and suprapubic pain.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Cognition Disorders: Disturbances in mental processes related to learning, thinking, reasoning, and judgment.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Nerve Tissue ProteinsFetal Diseases: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.Biopsy, Needle: Removal and examination of tissue obtained through a transdermal needle inserted into the specific region, organ, or tissue being analyzed.Aging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.Fundus Oculi: The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)Enzyme-Linked Immunosorbent Assay: An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed.Muscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Neural Conduction: The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.Hearing Loss, Sensorineural: Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Anti-Bacterial Agents: Substances that reduce the growth or reproduction of BACTERIA.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.Mice, Inbred C57BLQuestionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.ROC Curve: A graphic means for assessing the ability of a screening test to discriminate between healthy and diseased persons; may also be used in other studies, e.g., distinguishing stimuli responses as to a faint stimuli or nonstimuli.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Lymphoproliferative Disorders: Disorders characterized by proliferation of lymphoid tissue, general or unspecified.Streptococcal Infections: Infections with bacteria of the genus STREPTOCOCCUS.Chronic Disease: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
... early infantile, late infantile, and adult. Symptoms of early infantile GM1 (the most severe subtype, with onset shortly after ... later spasticity with pyramidal signs; secondary microcephaly develops; decerebrate rigidity by 1 year and death by age 1-2 ... Prenatal diagnosis is possible by measurement of Acid Beta Galactosidase in cultured amniotic cells. Bley, Annette E.; ... Onset of late infantile GM1 is typically between ages 1 and 3 years. Neurological symptoms include ataxia, seizures, dementia, ...
... while spinal-onset ALS has a median survival of 2.6 years and a 10-year survival rate of 13%. ... Upper motor neuron signs can develop late in the course of PMA, in which case the diagnosis might be changed to classic ALS.[29 ... Sporadic ALS usually starts around the ages of 58 to 63 years, while familial ALS starts earlier, usually around 47 to 52 years ... Although most people with juvenile ALS live longer than those with adult-onset ALS, some of them have specific mutations in FUS ...
... (or Wissler's disease or Wissler-Fanconi syndrome) is a rheumatic disease that has a similar presentation to sepsis. It is sometimes considered closely related to Still's disease. It is named for Guido Fanconi and Hans Wissler It was first described by Wissler in 1944 and Fanconi in 1946. Single observations by E. Uhse in 1943 («Febris maculosa intermittens»), Fykow in 1929 and Nowak in 1942. A symptom complex characterised by the clinical features of a high intermittent fever of septic type, constantly recurring exanthema, transient arthralgia, carditis, pleurisy, neutrophil leukocytosis, and increased erythrocyte sedimentation rate. Etiology uncertain. Wissler suggested an allergic reaction to bacteraemia as the pathogenic factor. Children and adolescents are most frequently affected; age in the reported cases varied from 5 to 17 years. Fink-Puches R, Smolle J, Kerl H (February 1994). "[Wissler's allergic subsepsis]". Hautarzt (in German). 45 (2): 80-3. ...
... (DR12) is a HLA-DR serotype that recognizes the DRB1*1201 to *1203, *1206. DR12 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR11 antigens. The table above describes the efficiency of serological typing of DR12 and DR5. Serotypes are unknown the following alleles: DRB1*1204,*1205 to *1207 to *1215 There are only 2 common allels for DRB1*12, *1201 and *1202. *1202 is more common on the West Pacific Rim and particularly Indochina and the South Pacific. DR12 is associated with vulval lichen sclerosus, and undifferentiated spondyloarthritis. DRB1*1201 is associated with iritis in juvenile arthritis, primary antiphospholipid syndrome, tiopronin intolerance in rheumatoid arthritis, adult chronic articular Still's disease DRB1*1202 is found to be increased in narcolepsy associated sudden death syndrome in the Thai population, and narcolepsy in the Japanese population. DRB1*12:DQA1*0505:DQBA1*0301 haplotype: ...
Alzheimer's disease (AD) is the most common cause of dementia and usually occurs in old age. It is invariably fatal, generally within ten years of the first signs. Early signs of AD include unusual memory loss, particularly in remembering recent events and the names of people and things, logopenic primary progressive aphasia. As the disease progresses the patient exhibits more serious problems, becoming subject to mood swings and unable to perform complex activities such as driving. In the latter stages they forget how to do simple things such as brushing their hair and then require full-time care.. Histologically, familial AD is practically indistinguishable from other forms of the disease. Deposits of amyloid can be seen in sections of brain tissue. This amyloid protein forms plaques and neurofibrillary tangles that progress through the brain. Very rarely the plaque may be unique, or uncharacteristic of AD; this can happen when there is a mutation in one of the genes that ...
... is a rare condition in older men, characterized by measurably low testosterone levels and clinical symptoms mostly of a sexual nature, including decreased desire for sex, fewer spontaneous erections, and erectile dysfunction. It is the result of a gradual drop in testosterone; a steady decline in testosterone levels of about 1% per year can happen and is well documented in both men and women. Late-onset hypogonadism is an endocrine condition as well as a result of aging. The terms "male menopause" and "andropause" are used in the popular media and are misleading, as they imply a sudden change in hormone levels similar to what women experience in menopause. As of 2016, the International Society for the Study of the Aging Male defines late-onset hypogonadism as a series of symptoms in older adults related to testosterone ...
Huntington's is caused by an autosomal dominant mutation expanding the number of glutamine codon repeats (CAG) within the Huntingtin gene (Htt). The Htt gene encodes for the huntingtin protein which plays a role in normal development but its exact function remains unknown. The length of this CAG repeat correlates with the age-of-onset of the disease. The average person without Huntington's has less than 36 CAG repeats present within the Htt gene. When this repeat length exceeds 36, the onset of neuronal degradation and the physical symptoms of Huntington's can range from as early as 5 years of age (CAG repeat , 70) to as late as 80 years of age (CAG repeat , 39). This CAG expansion results in mRNA downregulation of specific genes, decreased histone acetylation, and increased histone methylation. The exact ...
The classical LFS malignancies - sarcoma, cancers of the breast, brain and adrenal glands - comprise about 80% of all cancers that occur in this syndrome.. The risk of developing any invasive cancer (excluding skin cancer) is ~50% by age 30 (1% in the general population) and is 90% by age 70. Early onset breast cancer accounts for 25% of all the cancers in this syndrome. This is followed by soft tissue sarcomas (20%), bone sarcoma (15%) and brain tumors - especially glioblastomas - (13%). Other tumours seen in this syndrome include leukemia, lymphoma and adrenocortical carcinoma.. ~90% of females with LFS develop breast cancer by age 60 years; the majority of these occur before age 45 years. Females with this syndrome have almost a 100% lifetime risk of developing cancer. This compares with 73% for affected males. The difference may be due to much smaller breast tissue in males as well as increased estrogen ...
Rudolph Tanzi (also Rudy Tanzi) is the Joseph P. and Rose F. Kennedy Professor of Neurology at Harvard University, and Vice-Chair of Neurology, Director of the Genetics and Aging Research Unit, and Co-Director of the Henry and Allison McCance Center for Brain Health at Massachusetts General Hospital (MGH). Tanzi has been investigating the genetics of neurological disease since a student in the 1980s when he participated in the first study that used genetic markers to find a disease gene (Huntington's disease). Tanzi co-discovered all three familial early-onset Alzheimer's disease (FAD) genes and several other neurological disease genes including that responsible for Wilson's disease. As the leader of the Cure Alzheimer's Fund Alzheimer's Genome Project, Tanzi has carried out multiple genome wide association studies of thousands of Alzheimer's families leading to the identification of novel AD candidate genes, including CD33 and the first ...
... is a British student, scientist, and inventor. He was awarded the Scientific American Innovator Award at the 2015 Google Science Fair for his work on developing a novel diagnosis test for early-onset Alzheimer's disease. The award came with $25,000. In 2017, Nithiyanandam's research on identifying a mechanism to make triple-negative breast cancer more treatable won the Intermediate Science stream at the national Big Bang Fair. Recently, Nithiyanandam was the recipient of the U.K. Junior Water Prize for his project titled "A novel, photocatalytic, lead-sequestering bioplastic for sustainable water purification and environmental remediation". He represented the U.K. at the international Stockholm Junior Water Prize. In 2017, Nithiyanandam was named as a Rising Star in Science by The Observer and as one of TIME's 30 Most Influential Teens of 2017. Krtin Nithiyanandam was born in Chennai, India and moved to Britain with his ...
Motor neurone disease does not show many symptoms, making it very hard to diagnose. It usually affects people ages 40-60. The earliest symptoms may include twitching, cramping, or stiffness of muscles; muscle weakness affecting an arm or a leg; slurred and strange-sounding nasal speech; or having a difficult time chewing or swallowing. These general symptoms then develop into clear weakness or atrophy that may cause a physician to believe that a person has ALS. The parts of the body affected by early symptoms of ALS depend on which muscles in the body are affected first. About 75% of people have limb onset ALS. In some of these cases, symptoms first affect one of the legs, and patients have awkwardness when walking or running or they notice that they are tripping or stumbling more often. Other limb onset patients first see the effects of the disease on a hand or arm as they have a difficult ...
Strisciuglio P, Sly WS, Dodson WE, et al. (1991). "Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form". Am. J. Med. Genet. 37 (4): 573-7. doi:10.1002/ajmg.1320370431. PMID 2148053 ...
... , also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state. The disease is caused by a genetic disorder which results in a defect in a protein called Torsin A. A mutation in the DYT1 gene causes the loss of an amino acid, glutamic acid, in the Torsin A protein. The defective protein creates a disruption in communication in neurons that control muscle movement and muscle control. This mutation is most usually inherited from a parent, but can occur sporadically. The disease is caused by a dominant allele, meaning that the person affected needs only one copy ...
... (or RMD) is a neurological disorder characterized by involuntary (however may sometimes be voluntary), repetitive movements of large muscle groups immediately before and during sleep often involving the head and neck. It was independently described first in 1905 by Zappert as jactatio capitis nocturna and by Cruchet as rhythmie du sommeil. The majority of RMD episodes occur during NREM sleep, although REM movements have been reported. RMD is often associated with other psychiatric conditions or mental disabilities. The disorder often leads to bodily injury from unwanted movements. Because of these incessant muscle contractions, patients' sleep patterns are often disrupted. It differs from Restless Legs Syndrome in that RMD involves involuntary muscle contractions before and during sleep while Restless Legs Syndrome is the urge to move before sleep. RMD occurs in both males and females, often during early childhood with symptoms diminishing with age. Many sufferers also ...
A fasciculation /fəˌsɪkjʊˈleɪʃən/, or muscle twitch, is a small, local, involuntary muscle contraction and relaxation which may be visible under the skin. Deeper areas can be detected by electromyography (EMG) testing, though they can happen in any skeletal muscle in the body. Fasciculations arise as a result of spontaneous depolarization of a lower motor neuron leading to the synchronous contraction of all the skeletal muscle fibers within a single motor unit. An example of normal spontaneous depolarization is the constant contractions of cardiac muscle, causing the heart to beat. Usually, intentional movement of the involved muscle causes fasciculations to cease immediately, but they may return once the muscle is at rest again. Fasciculations have a variety of causes, the majority of which are benign, but can also be due to disease of the motor neurons. They are encountered by virtually all healthy people, though for most, it is quite infrequent. In some cases, the presence of ...
... early infantile, late infantile, and adult. Symptoms of early infantile GM1 (the most severe subtype, with onset shortly after ... later spasticity with pyramidal signs; secondary microcephaly develops; decerebrate rigidity by 1 year and death by age 1-2 ... Prenatal diagnosis is possible by measurement of Acid Beta Galactosidase in cultured amniotic cells. Bley, Annette E.; ... Onset of late infantile GM1 is typically between ages 1 and 3 years. Neurological symptoms include ataxia, seizures, dementia, ...
Late-infantile, Juvenile and Adult forms of the disease. The initial separation of subtypes by age of onset is inaccurate as ... benign form of adult onset generalized epilepsy until features of cognitive decline progressing to dementia appear years later ... The epilepsy becomes intractable with time and later there may be pyramidal and extra-pyramidal signs (14). The second ... The early classification of this group of metabolic diseases was based on age of onset and ultrastructural morphology of the ...
Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. From a series of 11 patients and 30 ... and adult onset cases (n = 28). Overall, 96 % of patients in the adult-onset group presented with signs of pyramidal tracts ... a family with both late-infantile and adult type. Neurology 41:1382-1384CrossRefPubMedGoogle Scholar ... Korn-Lubetzki I, Dor-Wollman T, Soffer D, Raas-Rothschild A, Hurvitz H, Nevo Y (2003) Early peripheral nervous system ...
A diagnosis of schizophrenia, or occasionally mania, may persist for many years until motor dysfunction, pyramidal or extra- ... sometimes by several years; early hallucinations in diffuse cortical Lewy body disease; delusional jealousy at the onset of ... and adult forms. Peripheral nerve involvement and motor dysfunction characterise the initial presentation of the infantile and ... Late diagnosis and misdiagnosis of narcolepsy are both extremely common. Complaints of tiredness, especially in the context of ...
12 Three major subtypes exist-late infantile (age 6 months to 2 years), juvenile (age 3-16 years) and adult (age ,16). ... Like PLP1, most patients have onset of symptoms in early life, but there are reports of later onset with slow progression into ... the pyramidal tracts and brainstem.64 It is important to note that copy number variants are not reliably identified by next- ... Late infantile onset is associated with poor prognosis (death typically occurs within 5-6 years) and manifests as regression of ...
Some of them exhibit different phenotypes with late and slow onset. The present work reports an unusual case of probable X- ... It is characterized by late onset (fourth or fifth decades of life) autonomic abnormalities, pyramidal and cerebellar ... The adult form (> 16 years old) has a slow course and mental deterioration and behavioral abnormalities are the most ... The disorder manifests already in early childhood; psychomotor decline is seen later, as well as the typical tendon xanthomas[2 ...
We report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder ... We suggest that pyramidal tract impairment could be involved in rapid-onset dystonia-parkinsonism and the pyramidal tract ... Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski ... is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of ...
Considering the onset, pediatric cataract covers congenital, infantile, and developmental cataracts and is equal with the less ... Figure 3. Posterior lenticonus/lentiglobus. A. Early central clear defect in posterior capsule. B. Early opacification of ... a randomized clinical trial of HOTV optotype acuity at age 4.5 years and clinical findings at age 5 years. J AMA Ophthalmol. ... This is a diagnosis of exclusion.. Unilateral Cataracts. *The presence of a unilateral lenticular abnormality is less often ...
Trauma should be considered in later postnatal onset Bilateral Cataracts. *Bilateral congenital cataracts are associated with ... A. Early central clear defect in posterior capsule. B. Early opacification of central defect. C. Ultrasound biomicroscopy of ... Considering the onset, pediatric cataract covers congenital, infantile, and developmental cataracts and is equal with the less ... a randomized clinical trial of HOTV optotype acuity at age 4.5 years and clinical findings at age 5 years. J AMA Ophthalmol. ...
... predictive of early-infantile Krabbe disease and having at least one G809A allele being compatible with juvenile or adult onset ... and CNS deterioration resulting in death by 1 to 2 years of age. Type II or late-infantile/ juvenile GM1 gangliosidosis ... early diagnosis of the disorder with early therapy leads to a better clinical outcome. The activity of cholesterol 7 alpha- ... pyramidal signs, and pseudo bulbar palsy beginning between 20 and 30 years of age. Pseudo bulbar palsy is a group of neurologic ...
Y., Steiner, R. D. 2013; 11 (6): 643-652 Abstract. Infantile and late-infantile neuronal ceroid lipofuscinoses (NCLs) are ... Unlike qk(v)/qk(v), qk(e5)/qk(e5) animals have early-onset seizures, severe ataxia, and a dramatically reduced lifespan. ... The median age at diagnosis was 8 years (range, 1-21 years) and the median follow-up time was 33 months (range, 0-150 months). ... Vasculature is LMO2- in adult and fetal heart, brain of older adults, hepatic sinusoids, and hepatocellular carcinoma. LMO2 is ...
... with phenotypes that range from infantile neurodegeneration and death in childhood to adult-onset parkinsonism-dystonia. Here ... Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin ... Ann N Y Acad Sci 2004;1012:252-266. 24. Alderson NL, Hama H. Fatty acid 2-hydroxylase regulates cAMPinduced cell cycle exit in ... Examination disclosed pyramidal tract signs with hyperreflexia, scoliosis, and bowel and bladder incontinence. Bradylalia and ...
... to patients with late onset Pompe disease (≥ 8 years old ) at 20 mg/kg/dose every 2 weeks. ... three articles above describe the long-term follow-up of patients with the infantile form of Pompe disease who started early ... Adult onset of some LSDs present with psychiatric and behavior symptoms for which conventional antipsychotic or antidepressant ... It is usually associated with other neurological signs including hypotonia, seizures, pyramidal or extra-pyramidal signs. ...
... exon 1 mutations associate with an early-onset cognitive shortfall subphenotype. In counting up, children with septic shocker ... Cuba Graciela Gudiсo-Cabrera Departamento de Biologнa Celular y Molecular, Centro Universitario de Ciencias Biologicas y ... Providing Reinforce The diagnosis of a valuable defect can be very stressful since the family. Having trouble drive at dark buy ... Hydrocortisone: 05075 mg/kg/d PO tid; Hydrocortone succinate 025035 mg/kg/d IM Asthma, acute: Adults purchase vermox 100mg ...
BrainYear: 2011; 134:2656-266321840890. 24▪. Xiao J,Uitti RJ,Zhao Y,et al. Mutations in CIZ1 cause adult onset primary cervical ... The age at onset ranged from the very early childhood to 40 years of age. As with CIZ1, the dystonia was never seen to ... Nature Rev NeurosciYear: 2008; 9:222-23418285800. 4. Geyer HL,Bressman SB. The diagnosis of dystonia. Lancet NeurolYear: 2006; ... Lee HY,Huang Y,Bruneau N,et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile ...
Onset at 19-64 years; dysarthria, gait ataxia, upper limb, slow progression; more variable features are mild pyramidal signs, ... Adult Primary Care Visit Frequency, Quality, and Duration Increasing * Novel Approach Shows Early Promise in Boosting Memory in ... Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology. 2005 Sep 27. 65(6):944-6. [Medline]. ... Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990 Jan-Feb. 9(1 ...
... age of 25 years and ,5 years after onset the development of the following: progressive gait ataxia, early areflexia in lower ... the age of 30 years with subsequent ataxia, and dysarthria, dementia, and later pyramidal and extrapyramidal signs. There are ... children and young adults. Onset of the disease is insidious (incubation time 6-8 years) and often only recognized after ... infantile (0-12 months), and (III) juvenile (2-20 years). The juvenile form is often a combined deficiency of neuraminidase and ...
... later onset forms are known. The so-called juvenile form usually has its onset between 2 and 6 years of age. The adult, or ... Compound heterozygotes carrying an infantile and an adult a-subunit mutation on homologous chromosomes have adult-onset GM2 ... The main systems affected in the juvenile and adult variants are the cerebellum, the pyramidal cells, the lower motor neurons ... A definitive diagnosis is established by assaying hexosaminidase A and B in serum, leukocytes, or cultured skin fibroblasts. In ...
... late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants ... The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. ... is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to ... Clarke and North (2003) stated that the diagnosis of congenital fiber-type disproportion as a disease entity is one of ...
Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from ... Although seizures often begin in the first year of life and generally by 2 years of age, about 10% can begin later in childhood ... Infantile spasms are a seizure type, a subtype of epileptic spasms occurring in the first year of life, and often occur as part ... Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet (2007) 44:81-8. doi:10.1001/ ...
The mean age of onset of sporadic OPCA is 53 years. The mean age of onset of familial OPCA is 28 years (excluding the infantile ... pyramidal tract signs; rare extrapyramidal; signs; some have dementia; neuropathy occurs late. Expansion repeat causes toxic ... Linkage and genetic analysis in adult onset periodic vestibulo-cerebellar ataxia: report of a new family. Am J Hum Genet. 1984 ... Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. J Neurol ...
1.56 years) despite early identification and treatment. Epileptic spasms were refractory to corticosteroids, immuno-modulation ... ranging from 2 months to 5.6 years. The etiology of continuous epileptic spasms for these 11 cases consisted of not only some ... range 2 months to 5.6 years. The etiology of continuous epileptic spasms for these 11 cases consisted of not only the ... Results: Median age at onset was two years, ... Etiology and long-term outcomes of late-onset infantile spasms ...
In our series, a molecular diagnosis was achieved in 32% of cases, suggesting that the molecular bases of a large number of ... All patients displayed complex and heterogeneous phenotypes mostly including developmental delay and pyramidal signs and less ... In fourteen cases the analyses led to a definite genetic diagnosis while results were controversial in the remaining two. ... We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown ...
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology. 2005 Sep 27. 65(6):944-6. [Medline]. ... Hyperactive deep tendon reflexes and spasticity due to pyramidal tract dysfunction are present early in the course of the ... Linkage and genetic analysis in adult onset periodic vestibulo-cerebellar ataxia: report of a new family. Am J Hum Genet. 1984 ... Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990 Jan-Feb. 9(1 ...
Comparisons of risk factors and visual field changes between juvenile-onset and late-onset primary open-angle glaucoma. ... Lee KE, Klein BE, Klein R and Wong TY (2002). Changes in refraction over 10 years in an adult population: the Beaver Dam Eye ... Tomany SC, Klein R and Klein BE (2001). The relation of coffee and caffeine to the 5-year incidence of early age-related ... de Schryver I, Rozenberg F, Cassoux N, Michelson S, Kestelyn P, Lehoang P, Davis JL and Bodaghi B (2006). Diagnosis and ...
SpasticityAtaxiaClinicalDysfunctionDementiaExtrapyramidalAdulthoodSevereMutationsNeuroaxonal dystrophyDevelopmental delayAbnormalMultisystemDystoniaTendon reflexesNeuronsProgressionNeuronalForm of adult onsetGangliosidosisFindingsMyopathyDIFFERENTIAL DIAGNOSISGeneHeterogeneousTypicallyEncephalopathyEpilepsyPrognosisAdolescenceHypotoniaInfancy or early childhoodDisordersImpairmentPeripheralProgressiveOccursSpasmsDisturbancesCognitive declineFetalSeizure
- In the later stages of the disease signs of spasticity , dystonia, rigidity, chorea and athetosis may be variably present. (78stepshealth.us)
- Hyperactive deep tendon reflexes and spasticity due to pyramidal tract dysfunction are present early in the course of the disease. (medscape.com)
- Children with PKAN typically manifest gait abnormalities around age three years and later develop progressive dystonia, dysarthria, rigidity, spasticity, hyperreflexia, and extensor toe signs. (bloodgenetics.com)
- Children with PKAN have typically gait difficulties approximately at the age of three and at later life they usually show progressive dystonia, rigidity, dysarthria, and spasticity. (beds.ac.uk)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity , a pyramidal syndrome and peripheral neuropathy . (cdc.gov)
- Phenotypically, affected family members exhibited spastic quadriparesis, ataxia, and dystonia with onset in childhood and episodic neurological decline. (docme.ru)
- Pikkarainen M, Hartikainen P, Soininen H, Alafuzoff I. Distribution and pattern of pathology in subjects with familial or sporadic late-onset cerebellar ataxia as assessed by p62/sequestosome immunohistochemistry. (medscape.com)
- Atypical spinocerebellar ataxia syndromes are common as modes of presentation of late-onset GM2 gangliosidosis. (78stepshealth.us)
- Early onset ataxia with optic atrophy are a heterogeneous group of disorders which can occur in combination with Friedreich ataxia, X-linked ataxia, leucodystrophies ALD, KLD, sialidosis, MELAS, biotin deficiency or demyelinating disease. (neuroweb.us)
- Throughout the years, both Dejerine-Thomas ataxia and Menzel ataxia have been used as terms for certain cases of either hereditary or sporadic OPCA. (medscape.com)
- Infantile Neuroaxonal Dystrophy 1, also known as infantile neuroaxonal dystrophy , is related to thrombosis and neurodegeneration with brain iron accumulation 2b , and has symptoms including ataxia , cachexia and seizures . (malacards.org)
- There is also Gerstmann-Sträussler-Scheinker syndrome (GSS) - a rare inherited prion disease characterised by adult onset of memory loss, dementia, ataxia, and pathological deposition of amyloid-like plaques in the brain. (51digg.info)
- Alternatively, patients show a chronic course with aversion for protein rich foods, developmental delay/intellectual disability, myoclonic seizures, ataxia and pyramidal dysfunction. (biomedcentral.com)
- The classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia, vertical supranuclear gaze palsy (VSGP), and dementia. (findzebra.com)
- When comparing with the late-infantile type, indications of peripheral neuropathy, most often areflexia , are found less prominent with a lower speed of progression, and more often combined with pyramidal indications and Phlorizin inhibitor ataxia However, especially the early-juvenile individuals may encounter severe PNS symptoms as mentioned above, actually after treatment with HCT. (bioentryplus.com)
- This patient initially presented with cerebellar ataxia at the age of 3 years, which was followed by symptoms of mental retardation, extrapyramidal signs, and epileptic seizure. (biomedcentral.com)
- Other early signs of cerebellar ataxia include dysarthria and nystagmus . (cdc.gov)
- Differential diagnoses include other autosomal recessive ataxias, such as Friedreich ataxia and ataxia with vitamin E deficiency (AVED), and hereditary forms of spastic paraplegia (see these terms), in particular spastic paraplegia 20 (SPG20-Troyer syndrome). (cdc.gov)
- ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. (diseaseinfosearch.org)
- ADCA III was a pure form of late-onset cerebellar ataxia without additional features. (diseaseinfosearch.org)
- The initial separation of subtypes by age of onset is inaccurate as the clinical onset was found to be highly variable (3,12,14). (upmc.edu)
- Despite the vast heterogenicity in terms of age of onset, clinical symptoms and course, all forms of NCL demonstrate the same histopathological features of abnormal accumulation of PAS and Sudan black B positive inclusions resistant to lipid solvent, present in most neurones and many other cell types (4, 5, 6, 11). (upmc.edu)
- From a series of 11 patients and 30 cases previously reported in the literature we describe the clinical, radiological, electrophysiological and genetic features of adult Krabbe disease. (springer.com)
- We describe clinical and radiological clues to aid diagnosis, and we present an overview of both common and rare genetic white matter disorders. (bmj.com)
- Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign. (biomedcentral.com)
- To our knowledge, clinical signs of pyramidal tract involvement have been reported in several RDP cases, but none of them included the Babinski sign. (biomedcentral.com)
- Clinical symptomatology of each LSDs overlaps and some characteristic differences may guide the diagnosis ( Table I ). (neurologyadvisor.com)
- The goals scraps the unvaried, namely, the provi- sion of a helpful agency for diagnosis and treatment and the improvement of specific clinical and biological trials in favour of these rare tumors but including "regional centers" able to be a relay between village handling of the patients and nationwide organization. (autoportal.ru)
- The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. (medscape.com)
- However, the long-term outcomes were extremely poor in the patients with defined electro-clinical epilepsy syndromes, including severe motor and intellectual developmental deficits (follow-up of 4.94 ± 1.56 years), despite early diagnosis and treatment. (frontiersin.org)
- Clinical data revision focused particularly on age and signs/symptoms at onset and clinical picture at the age at genetic analysis. (biomedcentral.com)
- Individuals with clinical signs and symptoms of parkinsonism may benefit from diagnostic genetic testing to confirm the diagnosis, direct medical treatment, and help predict outcome. (invitae.com)
- Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. (invitae.com)
- however, disease duration varies depending on the causative gene, clinical subtype, and age of onset. (invitae.com)
- It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. (symptoma.com)
- Lack of clinical improvement in autistic teenagers and adults indicates that the observed increase in neuron nucleus and cytoplasm volume close to control level does not normalize brain function. (biomedcentral.com)
- The improvement in daily living skills during adolescence and in the early 20s and the plateau in skills during the late 20s [ 7 ] indicate that the clinical phenotype is formed during early childhood but undergoes further modifications during adolescence and adulthood. (biomedcentral.com)
- Smooth and reliable diagnosis is the first step in the good clinical management of patients with ALS. (biomedcentral.com)
- This work will be largely pre-clinical, but will always be mindful of the clinical problem in managing late stage human disease through rationale design of combination therapies with companion diagnostic tests. (europa.eu)
- Clinical findings and molecular genetic testing establish the diagnosis of specific types. (bloodgenetics.com)
- Clinical findings include myoclonus, visual disturbances and cerebellar, pyramidal and extrapyramidal signs in addition to rapidly progressive cognitive and functional impairment. (51digg.info)
- The diagnosis relies on clinical signs and the peculiar metabolic triad of hyperammonemia, hyperornithinemia, and urinary excretion of homocitrulline. (biomedcentral.com)
- Lethargy and coma are frequent at disease onset, whereas pyramidal dysfunction and cognitive/behavioural abnormalities represent the most common clinical features in late-onset cases or during the disease course. (biomedcentral.com)
- Often presenting at birth or in early childhood, Complex I deficiency is usually a progressive neuro-degenerative disorder and is responsible for a variety of clinical symptoms, particularly in organs and tissues that require high energy levels, such as brain, heart, liver, and skeletal muscles. (umdf.org)
- The clinical manifestations of types C1 (257220) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006). (findzebra.com)
- Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. (edu.au)
- The clinical phenotype of this patient was atypical for INAD, occurred during late disease onset, and prolonged the disease course. (biomedcentral.com)
- Diseases of mitochondria, the powerplants of the cell, are a large and clinically heterogeneous group of disorders, encompassing a wide diversity of etiologies, ages of onset, involved organ systems, and clinical presentations. (biomedcentral.com)
- Comparative Features Following the first clinical description of a human gangliosidosis (Tay-Sachs disease) in 1881, more than 86 years elapsed before a reasonably complete understanding of the basic biochemical defect in these diseases emerged and additional clinical forms of gangliosidoses were recognized. (docme.su)
- Clinical diagnosis relies on the results of neuroimaging studies ( MRI and CT scans revealing atrophy of the upper cerebellar vermis and cervical spinal cord) and neurophysiological data (signs of both axonal and demyelinating neuropathy, with nerve conduction studies revealing loss of sensory nerve conduction and reduced motor conduction velocities). (cdc.gov)
- Our findings establish VWA1 as a new disease gene confidently implicated in this autosomal recessive neuromyopathic condition presenting with child-/adult-onset muscle weakness as a key clinical feature. (bvsalud.org)
- ABSTRACT Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. (bvsalud.org)
- The classical application of VEP measurements for clinical purposes is its contribution to the diagnosis of multiple sclerosis (MS). The main characteristic of this disease is the patchy demyelination of afferent and efferent nerve fibers distributed all over the nervous system, and the patients have neurological symptoms that cannot be explained by a single lesion. (mitchmedical.us)
- George Schumacher was the head of a National Institutes of Health committee that was charged with the responsibility of coming up with simple standardized minimal criteria that were to be used in making a diagnosis of MS in patients entering clinical trials in MS. The criteria reiterated the need to establish that the lesions (plaques) were disseminated in both time and space. (vertigoexercises.us)
- Overall, 96 % of patients in the adult-onset group presented with signs of pyramidal tracts dysfunction. (springer.com)
- Two years later he started presenting sphincter dysfunction. (ommegaonline.org)
- Although both the brisks reflexes and the ankle clonus exhibited in several RDP cases, scarce articles have discussed the pyramidal tract dysfunction in RDP. (biomedcentral.com)
- We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis. (bvsalud.org)
- The more common phenotype, known as Type A, is characterized by progressive myoclonic epilepsy often diagnosed as a benign form of adult onset generalized epilepsy until features of cognitive decline progressing to dementia appear years later. (upmc.edu)
- Later there is progressive dementia often associated with movement disorder including Parkinsonism or facial dyskinesias (1). (upmc.edu)
- Carter HR, Sukavajana C. Familial cerebello-olivary degeneration with late development of rigidity and dementia. (medscape.com)
- In addition, mutations of the PLA2G6 gene cause early onset dystonia-parkinsonism (PARK-14), which is clinically distinguished from NAD by good L-dopa responsiveness, L-dopa-induced dyskinesia, and dementia. (biomedcentral.com)
- Dementia in Alzheimer's disease with onset before the age of 65, with a relatively rapid deteriorating course and with marked multiple disorders of the higher cortical functions. (78stepshealth.us)
- Alzheimer's disease, type 2 Presenile dementia, Alzheimer's type Primary degenerative dementia of the Alzheimer's type, presenile onset F00.1* Dementia in Alzheimer's disease with late onset ( G30.1+ ) Dementia in Alzheimer's disease with onset after the age of 65, usually in the late 70s or thereafter, with a slow progression, and with memory impairment as the principal feature. (78stepshealth.us)
- Subacute onset of dystonia-parkinsonism occurs in late adolescence/early adulthood. (bloodgenetics.com)
- Less frequently, onset occurs later in childhood (the juvenile form) or adulthood. (cdc.gov)
- Using video-EEG monitoring, we assessed spectral power and epileptiform activity early postnatally through adulthood. (bvsalud.org)
- Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. (springer.com)
- X-linked Adrenoleukody (X-ALD), a genetic disorder in which the correct oxidation of very long chain fatty acids(VLCFA) is blocked, may present with a late onset and slow progression before the patient shows severe cognitive impairment [1-. (ommegaonline.org)
- A 24-year-old Chinese female with severe speech and swallowing difficulties, prominent lower lip concavity, and walking difficulties was admitted to our institution in July 2015. (biomedcentral.com)
- In addition to the severe infantile forms of GM2 gangliosidosis , later onset forms are known. (78stepshealth.us)
- In addition to elevated phenylalanine levels, levels of several neurotransmitters are reduced, which, when untreated, results in neurologic abnormalities that are typically severe, but can sometimes be milder and of later onset. (genpathdiagnostics.com)
- The most severe deficit of both neuronal nucleus and cytoplasm volume in 4-to 8-year-old autistic children appears to be a reflection of early developmental alterations that may have a major contribution to the autistic phenotype. (biomedcentral.com)
- May also be caused by severe malnutrition or anoxia in early infancy. (scribd.com)
- Neonatal form - Leads to severe disability or death within two years. (cdc.gov)
- Interestingly, two female siblings with adult onset NCL were reported to be compound heterozygotes for mutations of the CLN1 gene (12). (upmc.edu)
- Bernardini GL, Herrera DG, Carson D et al (1997) Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. (springer.com)
- Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. (biomedcentral.com)
- Current study uncovered two rare novel mutations in PANK2 and PLA2G6 genes in patients with NBIA disorder and such studies may help to conduct genetic counseling and prenatal diagnosis more accurately for individuals at the high risk of these types of disorders. (beds.ac.uk)
- However, mutation detection is a gold standard to confirm diagnosis in a patient even if the radiologic findings show the typical eye-of-the-tiger sign since there is no a strong correlation between this sign and PANK2 mutations. (beds.ac.uk)
- Diagnosis can be confirmed by detection of SACS mutations. (cdc.gov)
- A molecular diagnosis is reached in up to 95%, the vast majority of which are accounted for by three mutations within mitochondrial complex I (CI) subunit encoding genes in the mtDNA (mtLHON). (bvsalud.org)
- 51 Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. (malacards.org)
- An important gene associated with Infantile Neuroaxonal Dystrophy 1 is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis . (malacards.org)
- 50 neuroaxonal dystrophy, infantile is a type of lipid storage disorder that primarily affects the nervous system. (malacards.org)
- The patient presented with global developmental delay since early childhood and exhibited no preceding illness or drug use. (biomedcentral.com)
- 3.Fatal infantile multisystem disorder - characterized by poor muscle tone, developmental delay, heart disease, lactic acidosis, and respiratory failure. (umdf.org)
- Abnormal lysosomes have been demonstrated in eccrine sweat gland, lymphocytes, muscles, liver, kidney, thyroid, pancreas and rectum in cases of childhood NCL but description of the abnormal lysosomes outside the central nervous system in adult cases are poorly characterized (4, 11, 15). (upmc.edu)
- The diagnosis is usually first suspected when brain MRI findings suggest abnormal brain iron accumulation. (bloodgenetics.com)
- Our hypothesis was that, in the mouse models of RTT as in patients, early neurodevelopment might be abnormal, but in a subtle manner, given the first descriptions of these models as initially normal. (wiley.com)
- A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. (beds.ac.uk)
- The main systems affected in the juvenile and adult variants are the cerebellum, the pyramidal cells, the lower motor neurons and, less frequently, the basal ganglia . (78stepshealth.us)
- The aim of this stereological study of neurons in 16 brain structures of 14 autistic and 14 control subjects from 4 to 64 years of age was to establish the course of neuronal nuclear and cytoplasmic volume changes throughout the lifespan of individuals with autism. (biomedcentral.com)
- It is characterized by neuronal loss and degeneration of the upper motor neurons (UMNs) and lower motor neurons (LMNs), and is usually fatal due to respiratory failure within 3-5 years of onset. (biomedcentral.com)
- The demise of motor neurons causes the central nervous system (CNS) to lose the ability to control voluntary muscle movement, eventually resulting in death due to respiratory failure in the later stages of the disease. (biomedcentral.com)
- Lpd depletion reveals that SRF specifies radial versus tangential migration of pyramidal neurons. (saladgaffe.tk)
- However, the age of onset is difficult to determine because of the very slow progression of the disease. (78stepshealth.us)
- Classic PKAN (early onset and rapid progression) and atypical PKAN (later onset and slower progression). (bloodgenetics.com)
- The disease patterns emerging for these leukodystrophies are distinct in terms of the age of onset, nature of disease progression, and predominance of involved white matter tracts. (biomedcentral.com)
- Kufs' Disease (Adult Neuronal Ceroid Lipofuscinosis). (upmc.edu)
- The adult form (Adult neuronal ceroid lipofuscinosis) is extremely rare with less than 100 confirmed cases since it was first reported by Hugo Friedrich Kufs in 1925 (1,4,5). (upmc.edu)
- Development of the autistic phenotype typically takes three years and consists of several steps, suggesting a progressive involvement of brain structures and neuronal networks. (biomedcentral.com)
- An epilepsy syndrome involves a specific seizure type(s) plus other features such as age of onset, electroencephalographic (EEG) findings, genetics/natural history, and responsiveness to particular drugs. (frontiersin.org)
- Adult-onset subtype showed isolated involvement of corticospinal tract, posterior periventricular white matter, and callosal splenium with the absence of other supra- and infra-tentorial findings. (clinicalimagingscience.org)
- Schrag sj prevention of deep veins, trauma, and myotonic dystrophy ii proximal myotonic myopathy promm late childhood and adolescence is to find and seal off a perforated viscus or contain a nucleus and a safety profile similar to electroencephalography, but is also fairly common rhythm disturbance in consciousness. (nrha.org)
- The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. (mendelian.co)
- The adult form has provisionally been assigned the gene CLN4. (upmc.edu)
- The CLN 4 gene or genes and the associated metabolic defect responsible for Adult NCL are still largely unknown (3, 4,6,7, 14). (upmc.edu)
- Adult-onset autosomal dominant leukodystrophy results from tandem duplication of the LMNB1 gene, which encodes the nuclear lamina protein lamin B1. (rarediseases.org)
- The first description of the Reeler mutation in mouse dates to more than fifty years ago, and later, its causative gene ( reln ) was discovered in mouse, and its human orthologue ( RELN ) was demonstrated to be causative of lissencephaly 2 (LIS2) and about 20% of the cases of autosomal-dominant lateral temporal epilepsy (ADLTE). (mdpi.com)
- However, medical trials consisting of allogeneic hematopoietic stem cell transplantation (HCT) and gene therapy present opportunities for presymptomatic or very early symptomatic individuals [6, 9, (bioentryplus.com)
- Juvenile subgroup showed heterogeneous mixed pattern with 78% showing adult subtype pattern and 22% showing patchy involvement of deep cerebral white matter with dentate hilum signal changes. (clinicalimagingscience.org)
- The scientific spectral range of metachromatic leukodystrophy The scientific display of MLD is normally heterogeneous with regards to the age group of onset, the quickness of development and the current presence of peripheral neuropathy, also within families occasionally. (bioentryplus.com)
- Mitochondrial diseases are a large, clinically heterogeneous group of disorders with diverse etiologies, ages of onset, and involved organ systems. (biomedcentral.com)
- We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses. (biomedcentral.com)
- In this study, we focused on a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology. (biomedcentral.com)
- Epileptic spasms can be the main seizure type of some primary epilepsy syndromes ( 7 , 8 ), such as infantile spasms, Ohtahara Syndrome, and West Syndrome. (frontiersin.org)
- Her work together with Professor Sam Berkovic and molecular geneticists at the Women's and Children's Hospital in Adelaide, has led the field of epilepsy genetics research over the last 21 years. (edu.au)
- Very recently, Professor Scheffer was awarded the 2013 GlaxoSmithKline Award for Research Excellence for helping to transform the diagnosis of epilepsy. (edu.au)
- An explosion of the number of scientific studies on the relation between autoimmunity and epilepsy has occurred since the early 1990s. (aappublications.org)
- It is helpful to consider the morphological classification of pediatric cataracts to understand the age of onset, etiology, and visual prognosis. (aao.org)
- Early intervention allows almost normal life span but the prognosis is variable, suggesting the need for a better understanding of the still unsolved pathophysiology of the disease. (biomedcentral.com)
- Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. (bmj.com)
- In this review, we provide a structured approach to the diagnosis of inherited disorders of white matter in adults. (bmj.com)
- While the following list includes many disorders that have recently been described, it is not complete as there are new leukodystrophies identified each year. (rarediseases.org)
- In our series, a molecular diagnosis was achieved in 32% of cases, suggesting that the molecular bases of a large number of disorders are still to be elucidated. (biomedcentral.com)
- The diseases predominantly affect children, but adult-onset disorders are being recognized with increasing frequency. (rarediseasesnetwork.org)
- Here, we describe a Chinese RDP case with the Babinski sign, which indicates significant pyramidal tract impairment. (biomedcentral.com)
- Factors such as the age of the subject at the time of injury were seen to play a part, and indeed one of Lashley's students (Tsang, 1937) had provided evidence that proportionately equivalent lesions in adult and juvenile rats produced less impairment in the younger animals. (edu.au)
- These are often lost later, especially the ankle jerks, as part of a concomitant peripheral neuropathy. (medscape.com)
- Onset of the peripheral neuropathy generally occurs later and leads to absence of the Achilles tendon reflex, distal amyotrophy and deep sensory disturbances (impaired vibration sense). (cdc.gov)
- Death usually occurs between 2 and 3 years of age, survival after the age of 4 being rare. (78stepshealth.us)
- Some studies report that their use remains controversial and usually occurs within hours of age, suggests a large hordeolum or if it is important in the late postoperative period. (nrha.org)
- It occurs when the upper end of the neural tube fails to close in early uterine life. (scribd.com)
- death usually occurs in the late second or third decade from aspiration pneumonia. (findzebra.com)
- The age of onset in non-Quebec patients is variable (ranging from late infantile, juvenile to early-adult onset) but in individuals from Quebec, onset occurs between 12 and 18 months of age with gait disturbance and walking difficulties. (cdc.gov)
- Hence, PV-IN activity remains intact interictally in Scn1a +/− mice, yet exhibits decreased synchrony immediately before seizure onset. (jneurosci.org)
- Behavioral seizure scoring following PTZ induction revealed no difference in seizure threshold in AS rats, however behavioral recovery from the PTZ-induced seizure was longer in the adult group with significantly increased hippocampal epileptiform activity during this phase. (bvsalud.org)