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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 ...
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Glycogen Storage Disease Type II
Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and the nervous system. Signs and symptoms Newborn The infantile form usually comes to medical attention within the first few months of life. The usual presenting features are cardiomegaly (92%), hypotonia (88%), cardiomyopathy (88%), respiratory distress (78%), muscle weakness (63%), feeding difficulties (57%) and failure to thrive (50%). ...
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Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is a rare neurodegenerative disorders associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). The PDC is a multi-enzyme complex that plays a vital role as a key regulatory step in the central pathways of energy metabolism in the mitochondria. The disorder shows heterogeneous characteristics in both clinical presentation and biochemical abnormality. Signs and symptoms PDCD is generally presented in one of two forms. The metabolic form appears as lactic acidosis. The neurological form of PDCD contributes to hypotonia, poor feeding, lethargy and structural abnormalities in the brain. Patients may develop seizures and/or neuropathological spasms. These presentations of the disease usually progress to mental retardation, microcephaly, blindness, and spasticity. Females w ...
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Muscle Tone
In physiology, medicine, and anatomy, muscle tone (residual muscle tension or tonus) is the continuous and passive partial contraction of the muscles, or the muscle's resistance to passive stretch during resting state.O’Sullivan, S. B. (2007). Examination of motor function: Motor control and motor learning. In S. B. O’Sullivan, & T. J. Schmitz (Eds), Physical rehabilitation (5th ed.) (pp. 233-234). Philadelphia, Pennsylvania: F. A. Davis Company. It helps to maintain posture and declines during REM sleep. Purpose If a sudden pull or stretch occurs, the body responds by automatically increasing the muscle's tension, a reflex which helps guard against danger as well as helping maintain balance. Such near-continuous innervation can be thought of as a "default" or "steady state" condition for muscles. Both the extensor and flexor muscles are involved in the maintenance of a constant tone while at rest. In skeletal muscles, this helps maintain a normal posture. Resting muscle t ...
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Cerebellum
The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as or even larger. In humans, the cerebellum plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language as well as emotional control such as regulating fear and pleasure responses, but its movement-related functions are the most solidly established. The human cerebellum does not initiate movement, but contributes to coordination, precision, and accurate timing: it receives input from sensory systems of the spinal cord and from other parts of the brain, and integrates these inputs to fine-tune motor activity. Cerebellar damage produces disorders in fine movement, equilibrium, posture, and motor learning in humans. Anatomically, the human cerebellum has the appearance of a separate structure attached to th ...
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Motor Skills
A motor skill is a function that involves specific movements of the body's muscles to perform a certain task. These tasks could include walking, running, or riding a bike. In order to perform this skill, the body's nervous system, muscles, and brain have to all work together. The goal of motor skill is to optimize the ability to perform the skill at the rate of success, precision, and to reduce the energy consumption required for performance. Performance is an act of executing a motor skill or task. Continuous practice of a specific motor skill will result in a greatly improved performance, which leads to Motor Learning. Motor learning is a relatively permanent change in the ability to perform a skill as a result of continuous practice or experience. Types of motor skills Motor skills are movements and actions of the muscles. There are two major groups of motor skills: * Gross motor skills – require the use of large muscle groups in our legs, torso, and arms to perform tasks suc ...
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Inborn Errors Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others ( products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To this concept it's possible to include the new term of Enzymopathy. This term was created following the study of Biodynamic Enzymology, a science based on the study of the enzymes and their derivated products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one g ...
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Hypoxic Ischemic Encephalopathy
Cerebral hypoxia is a form of hypoxia (reduced supply of oxygen), specifically involving the brain; when the brain is completely deprived of oxygen, it is called ''cerebral anoxia''. There are four categories of cerebral hypoxia; they are, in order of increasing severity: diffuse cerebral hypoxia (DCH), focal cerebral ischemia, cerebral infarction, and global cerebral ischemia. Prolonged hypoxia induces neuronal cell death via apoptosis, resulting in a hypoxic brain injury. Cases of total oxygen deprivation are termed "anoxia", which can be hypoxic in origin (reduced oxygen availability) or ischemic in origin (oxygen deprivation due to a disruption in blood flow). Brain injury as a result of oxygen deprivation either due to hypoxic or anoxic mechanisms are generally termed hypoxic/anoxic injuries (HAI). Hypoxic ischemic encephalopathy (HIE) is a condition that occurs when the entire brain is deprived of an adequate oxygen supply, but the deprivation is not total. While HIE is ...
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Muscle Contraction
Muscle contraction is the activation of tension-generating sites within muscle cells. In physiology, muscle contraction does not necessarily mean muscle shortening because muscle tension can be produced without changes in muscle length, such as when holding something heavy in the same position. The termination of muscle contraction is followed by muscle relaxation, which is a return of the muscle fibers to their low tension-generating state. For the contractions to happen, the muscle cells must rely on the interaction of two types of filaments which are the thin and thick filaments. Thin filaments are two strands of actin coiled around each, and thick filaments consist of mostly elongated proteins called myosin. Together, these two filaments form myofibrils which are important organelles in the skeletal muscle system. Muscle contraction can also be described based on two variables: length and tension. A muscle contraction is described as isometric if the muscle tension changes ...
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Biceps
The biceps or biceps brachii ( la, musculus biceps brachii, "two-headed muscle of the arm") is a large muscle that lies on the front of the upper arm between the shoulder and the elbow. Both heads of the muscle arise on the scapula and join to form a single muscle belly which is attached to the upper forearm. While the biceps crosses both the shoulder and elbow joints, its main function is at the elbow where it flexes the forearm and supinates the forearm. Both these movements are used when opening a bottle with a corkscrew: first biceps screws in the cork (supination), then it pulls the cork out ( flexion). Structure The biceps is one of three muscles in the anterior compartment of the upper arm, along with the brachialis muscle and the coracobrachialis muscle, with which the biceps shares a nerve supply. The biceps muscle has two heads, the short head and the long head, distinguished according to their origin at the coracoid process and supraglenoid tubercle of t ...
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Stretching
Stretching is a form of physical exercise in which a specific muscle or tendon (or muscle group) is deliberately flexed or stretched in order to improve the muscle's felt elasticity and achieve comfortable muscle tone. The result is a feeling of increased muscle control, flexibility, and range of motion. Stretching is also used therapeutically to alleviate cramps and to improve function in daily activities by increasing range of motion. In its most basic form, stretching is a natural and instinctive activity; it is performed by humans and many other animals. It can be accompanied by yawning. Stretching often occurs instinctively after waking from sleep, after long periods of inactivity, or after exiting confined spaces and areas. Not only vertebrates (mammals and birds), but also spiders were found to exhibit stretching in 2021. Increasing flexibility through stretching is one of the basic tenets of physical fitness. It is common for athletes to stretch before (for warmin ...
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Neurology
Neurology (from el, νεῦρον (neûron), "string, nerve" and the suffix -logia, "study of") is the branch of medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the brain, the spinal cord and the peripheral nerves. Neurological practice relies heavily on the field of neuroscience, the scientific study of the nervous system. A neurologist is a physician specializing in neurology and trained to investigate, diagnose and treat neurological disorders. Neurologists treat a myriad of neurologic conditions, including stroke, seizures, movement disorders such as Parkinson's disease, autoimmune neurologic disorders such as multiple sclerosis, headache disorders like migraine and dementias such as Alzheimer's disease. Neurologists may also be involved in clinical research, clinical trials, and basic or translational research. While neurology is a nonsurgical specialty, its corresponding surgical specialty is neurosurgery ...
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Bodybuilding
Bodybuilding is the use of progressive resistance exercise to control and develop one's muscles (muscle building) by muscle hypertrophy for aesthetic purposes. It is distinct from similar activities such as powerlifting because it focuses on physical appearance instead of strength. An individual who engages in this activity is referred to as a bodybuilder. In professional bodybuilding, competitors appear in lineups and perform specified poses (and later individual posing routines) for a panel of judges who rank them based on symmetry, muscularity, size, conditioning, posing, and stage presentation. Bodybuilders prepare for competitions through the elimination of nonessential body fat, enhanced at the last stage by a combination of extracellular dehydration and carbo-loading, to achieve maximum muscular definition and vascularity; they also tan and shave to accentuate the contrast of their skin under the spotlights. Bodybuilding takes a great amount of effort and time to r ...
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