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Rigid Spine Syndrome
Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life. This condition is typically present from birth or early childhood and tends to worsen over time. Despite its rarity, rigid spine syndrome represents a significant challenge for those affected, as well as for their families and healthcare providers. Signs and symptoms Rigid spine syndrome is characterized by a range of symptoms that can vary in severity and presentation. Common symptoms of the condition include: Muscle stiffness and rigidity Individuals with rigid spine syndrome often experience tightness and inflexibility in their muscles, particularly in the spine. This rigidity can make movement difficult and may progress over time. Spinal deformities One of the ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuromuscular Disorder
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junctions, or skeletal muscles, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or genetic. Mutations of more than 650 genes have shown to be causes of neuromuscular diseases. Other causes include nerve or muscle degeneration, autoimmunity, toxins, medications, malnutrition, metabolic derangements, hormone imbalances, infection, nerve compression/entrapment, comprised blood supply, and trauma. Signs and symptoms Symptoms of neuromuscular disease may include numbness, paresthesia, muscle atrophy, a pseudoathletic appearance, exercise intolerance, myalgia (muscle pain), fasciculations (muscle twitches), myotonia (delayed muscle relaxation), hypotonia (lack of resistance to passive movement), fixed muscle weakness (a static sy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-ray
An X-ray (also known in many languages as Röntgen radiation) is a form of high-energy electromagnetic radiation with a wavelength shorter than those of ultraviolet rays and longer than those of gamma rays. Roughly, X-rays have a wavelength ranging from 10 Nanometre, nanometers to 10 Picometre, picometers, corresponding to frequency, frequencies in the range of 30 Hertz, petahertz to 30 Hertz, exahertz ( to ) and photon energies in the range of 100 electronvolt, eV to 100 keV, respectively. X-rays were discovered in 1895 in science, 1895 by the German scientist Wilhelm Röntgen, Wilhelm Conrad Röntgen, who named it ''X-radiation'' to signify an unknown type of radiation.Novelline, Robert (1997). ''Squire's Fundamentals of Radiology''. Harvard University Press. 5th edition. . X-rays can penetrate many solid substances such as construction materials and living tissue, so X-ray radiography is widely used in medical diagnostics (e.g., checking for Bo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infant
In common terminology, a baby is the very young offspring of adult human beings, while infant (from the Latin word ''infans'', meaning 'baby' or 'child') is a formal or specialised synonym. The terms may also be used to refer to juveniles of other organisms. A newborn is, in colloquial use, a baby who is only hours, days, or weeks old; while in medical contexts, a newborn or neonate (from Latin, ''neonatus'', newborn) is an infant in the first 28 days after birth (the term applies to premature, full term, and postmature infants). Infants born prior to 37 weeks of gestation are called "premature", those born between 39 and 40 weeks are "full term", those born through 41 weeks are "late term", and anything beyond 42 weeks is considered "post term". Before birth, the offspring is called a fetus. The term ''infant'' is typically applied to very young children under one year of age; however, definitions may vary and may include children up to two years of age. When a human chi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prognosis
Prognosis ( Greek: πρόγνωσις "fore-knowing, foreseeing"; : prognoses) is a medical term for predicting the likelihood or expected development of a disease, including whether the signs and symptoms will improve or worsen (and how quickly) or remain stable over time; expectations of quality of life, such as the ability to carry out daily activities; the potential for complications and associated health issues; and the likelihood of survival (including life expectancy). A prognosis is made on the basis of the normal course of the diagnosed disease, the individual's physical and mental condition, the available treatments, and additional factors. A complete prognosis includes the expected duration, function, and description of the course of the disease, such as progressive decline, intermittent crisis, or sudden, unpredictable crisis. When applied to large statistical populations, prognostic estimates can be very accurate: for example the statement "45% of patients with sever ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nerve
A nerve is an enclosed, cable-like bundle of nerve fibers (called axons). Nerves have historically been considered the basic units of the peripheral nervous system. A nerve provides a common pathway for the Electrochemistry, electrochemical nerve impulses called action potentials that are transmitted along each of the axons to peripheral organs or, in the case of sensory nerves, from the periphery back to the central nervous system. Each axon is an extension of an individual neuron, along with other supportive cells such as some Schwann cells that coat the axons in myelin. Each axon is surrounded by a layer of connective tissue called the endoneurium. The axons are bundled together into groups called Nerve fascicle, fascicles, and each fascicle is wrapped in a layer of connective tissue called the perineurium. The entire nerve is wrapped in a layer of connective tissue called the epineurium. Nerve cells (often called neurons) are further classified as either Sensory neuron, sens ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electromyography
Electromyography (EMG) is a technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph to produce a record called an electromyogram. An electromyograph detects the electric potential generated by muscle cells when these cells are electrically or neurologically activated. The signals can be analyzed to detect abnormalities, activation level, or recruitment order, or to analyze the biomechanics of human or animal movement. Needle EMG is an electrodiagnostic medicine technique commonly used by neurologists. Surface EMG is a non-medical procedure used to assess muscle activation by several professionals, including physiotherapists, kinesiologists and biomedical engineers. In computer science, EMG is also used as middleware in gesture recognition towards allowing the input of physical action to a computer as a form of human-computer interaction. Clinical uses EMG testing has a varie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Biopsy
In medicine, a muscle biopsy is a procedure in which a piece of muscle tissue is removed from an organism and examined microscopically. A muscle biopsy can lead to the discovery of problems with the nervous system, connective tissue, vascular system, or musculoskeletal system. Indications In humans with weakness and low muscle tone, a muscle biopsy can help distinguish between myopathies (where the pathology is in the muscle tissue itself) and neuropathies (where the pathology is at the nerves innervating those muscles). Muscle biopsies can also help to distinguish among various types of myopathies, by microscopic analysis for differing characteristics when exposed to a variety of chemical reactions and stains. However, in some cases the muscle biopsy alone is inadequate to distinguish between certain myopathies. For example, a muscle biopsy showing the nucleus pathologically located in the center of the muscle cell would indicate " centronuclear myopathy", but research has sho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MRI Scans
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves to form images of the organs in the body. MRI does not involve X-rays or the use of ionizing radiation, which distinguishes it from computed tomography (CT) and positron emission tomography (PET) scans. MRI is a medical application of nuclear magnetic resonance (NMR) which can also be used for imaging in other NMR applications, such as NMR spectroscopy. MRI is widely used in hospitals and clinics for medical diagnosis, staging and follow-up of disease. Compared to CT, MRI provides better contrast in images of soft tissues, e.g. in the brain or abdomen. However, it may be perceived as less comfortable by patients, due to the usually longer and louder measurements with the subject in a long, confining tube, although "open" MR ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CT Scan
A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or radiology technologists. CT scanners use a rotating X-ray tube and a row of detectors placed in a gantry (medical), gantry to measure X-ray Attenuation#Radiography, attenuations by different tissues inside the body. The multiple X-ray measurements taken from different angles are then processed on a computer using tomographic reconstruction algorithms to produce Tomography, tomographic (cross-sectional) images (virtual "slices") of a body. CT scans can be used in patients with metallic implants or pacemakers, for whom magnetic resonance imaging (MRI) is Contraindication, contraindicated. Since its development in the 1970s, CT scanning has proven to be a versatile imaging technique. While CT is most prominently used in medical diagnosis, i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle Stiffness
Delayed onset muscle soreness (DOMS) is the pain and stiffness felt in muscles after unaccustomed or strenuous exercise. The soreness is felt most strongly 24 to 72 hours after the exercise. It is thought to be caused by eccentric (lengthening) exercise, which causes small-scale damage ( microtrauma) to the muscle fibers. After such exercise, the muscle adapts rapidly to prevent muscle damage, and thereby soreness, if the exercise is repeated. Delayed onset muscle soreness is one symptom of exercise-induced muscle damage. The other is acute muscle soreness, which appears during and immediately after exercise. Signs and symptoms The soreness is perceived as a dull, aching pain in the affected muscle, often combined with tenderness and stiffness. The pain is typically felt only when the muscle is stretched, contracted or put under pressure, not when it is at rest. This tenderness, a characteristic symptom of DOMS, is also referred to as "muscular mechanical hyperalgesia". Althou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SEPN1 (gene)
Selenoprotein N is a protein that in humans is encoded by the ''SEPN1'' gene. Function This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Pathogenic Mutations in SEPN1 gene (SELENON) can cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome known as SEPN1-related congenital muscular dystrophy or rigid spine syndrome Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
