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Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills. Cause This condition is inherited in an autosomal recessive pattern, which means two copies of the gene (''PLA2G6'') in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder. Pathophysiology Mutations in the ''PLA2G6'' gene have been identified in most individuals with infantile neuroaxonal dystrophy. The ''PLA2G6'' gene provides instructions for making an enzyme called an A2 phospholipase. This enzyme family is involved i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pervasive Developmental Disorder
The diagnostic category pervasive developmental disorders (PDD), as opposed to specific developmental disorders (SDD), is a group of disorders characterized by delays in the development of multiple basic functions including socialization and communication. The pervasive developmental disorders include autism, Asperger syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS, i.e., all autism spectrum disorders SD, childhood disintegrative disorder (CDD), overactive disorder associated with mental retardation and stereotyped movements, and Rett syndrome. The first four of these disorders are commonly called the autism spectrum disorders; the last disorder is much rarer, and is sometimes placed in the autism spectrum and sometimes not. The terminology PDD and ASD is often used interchangeably and varies depending on location. The two have overlapping definitions but are defined differently by the Diagnostic and Statistical Manual of Mental Disorders, 5t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schindler Disease
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, which leads to excessive lysosomal accumulation of glycoproteins. A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease. Types There are three main types of the disease each with its own distinctive symptoms. ''Type I'' infantile form, infants will develop normally until about a year old. At this time, the affected infant will begin to lose previously acquired skills involving the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RT001
Di-deuterated ethyl linoleate (also known as RT001, di-deuterated linoleic acid ethyl ester, 11,11-''d2''-ethyl linoleate, or ethyl 11,11-''d2''-linoleate) is an experimental, orally-bioavailable synthetic deuterated polyunsaturated fatty acid (PUFA), a part of reinforced lipids. It is an isotopologue of linoleic acid, an essential omega-6 PUFA. The deuterated compound, while identical to natural linoleic acid except for the presence of deuterium, is resistant to lipid peroxidation which makes studies of its cell-protective properties worthwhile. Mechanism of action Di-deuterated linoleic acid is recognized by cells as identical to the natural linoleic acid. But when taken up, it is converted into 13,13-''d2''-arachidonic acid, a heavy isotope version of arachidonic acid, that gets incorporated into lipid membranes. The deuterated compound resists the non-enzymatic lipid peroxidation (LPO) through isotope effect — a non-antioxidant based mechanism that protects mitochond ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physiotherapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient education, physical intervention, rehabilitation, disease prevention, and health promotion. Physical therapists are known as physiotherapists in many countries. In addition to clinical practice, other aspects of physical therapist practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kingdom, physical therapists have the authority to prescribe medication. Overview Physical therapy addresses the illnesses or injuries that limit a person's abilities to move and perform functional activities in their daily lives. PTs use an individual's history and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Baclofen
Baclofen, sold under the brand name Lioresal among others, is a medication used to treat muscle spasticity such as from a spinal cord injury or multiple sclerosis. It may also be used for hiccups and muscle spasms near the end of life. It is taken by mouth or by delivery into the spinal canal. Common side effects include sleepiness, weakness, and dizziness. Serious side effects may occur if baclofen is rapidly stopped including seizures and rhabdomyolysis. Use in pregnancy is of unclear safety while use during breastfeeding is probably safe. It is believed to work by decreasing levels of certain neurotransmitters. Baclofen was approved for medical use in the United States in 1977. It is available as a generic medication. In 2020, it was the 108th most commonly prescribed medication in the United States, with more than 6million prescriptions. Medical uses Baclofen is primarily used for the treatment of spastic movement disorders, especially in instances of spinal cord inju ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dementia
Dementia is a disorder which manifests as a set of related symptoms, which usually surfaces when the brain is damaged by injury or disease. The symptoms involve progressive impairments in memory, thinking, and behavior, which negatively affects a person's ability to function and carry out everyday activities. Aside from memory impairment and a disruption in thought patterns, the most common symptoms include emotional problems, difficulties with language, and decreased motivation. The symptoms may be described as occurring in a continuum over several stages. Consciousness is not affected. Dementia ultimately has a significant effect on the individual, caregivers, and on social relationships in general. A diagnosis of dementia requires the observation of a change from a person's usual mental functioning, and a greater cognitive decline than what is caused by normal aging. Several diseases and injuries to the brain, such as a stroke, can give rise to dementia. However, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pathologic Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the involuntary movement of the eye, it has been called "dancing eyes". In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key forms of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spasticity
Spasticity () is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual "tightness", stiffness, or "pull" of muscles. Clinically, spasticity results from the loss of inhibition of motor neurons, causing excessive velocity-dependent muscle contraction. This ultimately leads to hyperreflexia, an exaggerated deep tendon reflex. Spasticity is often treated with the drug baclofen, which acts as an agonist at GABA receptors, which are inhibitory. Spastic cerebral palsy is the most common form of cerebral palsy, which is a group of permanent movement problems that do not get worse over time. GABA's inhibitory actions contribute to baclofen's efficacy as an anti-spasticity agent. Cause Spasticity mostly occurs in disorders of the central nervous system (CNS) affecting the upper motor neurons in the form of a lesion, such as spastic diplegia, or upper mo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha-N-acetylgalactosaminidase
α-N-acetylgalactosaminidaseEC 3.2.1.49 is a glycoside hydrolase from bacteria and animals, also known as nagalase. The human gene that codes for this enzyme is NAGA. Mutations in this gene and the deficiency in alpha-N-acetylgalactosaminidase activity have been identified as the cause of Schindler disease. Enzymes with this activity is useful for converting type A blood to type O, giving it the name of A-zyme. Bacterial enzymes in the GH109 family, including the A-zyme from ''Elizabethkingia meningoseptica ''Elizabethkingia meningoseptica'' is a Gram-negative, rod-shaped bacterium widely distributed in nature (e.g. fresh water, salt water, or soil). It may be normally present in fish and frogs; it may be isolated from chronic infectious states, ...'', runs this reaction efficiently. Nagalase catalyzes the deglycosylation of the Gc protein also known as vitamin D3 binding protein (VDBP) rendering it incapable of being converted to the regulatory protein, Gc Macrophage Act ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nervous System
In biology, the nervous system is the highly complex part of an animal that coordinates its actions and sensory information by transmitting signals to and from different parts of its body. The nervous system detects environmental changes that impact the body, then works in tandem with the endocrine system to respond to such events. Nervous tissue first arose in wormlike organisms about 550 to 600 million years ago. In vertebrates it consists of two main parts, the central nervous system (CNS) and the peripheral nervous system (PNS). The CNS consists of the brain and spinal cord. The PNS consists mainly of nerves, which are enclosed bundles of the long fibers or axons, that connect the CNS to every other part of the body. Nerves that transmit signals from the brain are called motor nerves or '' efferent'' nerves, while those nerves that transmit information from the body to the CNS are called sensory nerves or '' afferent''. Spinal nerves are mixed nerves that serve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
