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Transient Neonatal Myasthenia Gravis
Transient neonatal myasthenia gravis, i.e., TNMG (also termed neonatal myasthenia gravis), and its more severe form, fetal acetylcholine receptor inactivation syndrome (i.e., FARIS), is one of the various types of myasthenia gravis (i.e., MG). MG is an autoimmune disease in which individuals form antibodies that circulate in their blood, enter tissues, bind to certain proteins in the neuromuscular junctions of skeletal muscles, and thereby reduce the number or ability of these skeletal muscles to contract when appropriately stimulated by acetylcholine. The affected skeletal muscles are easily fatigable, i.e., weakened after relatively little use. There are at least 3 types of antibodies that are known to cause the non-FARIS form of TNMG: antibodies binding to the adult form of the nicotinic acetylcholine receptor, i.e., adult nAChR, are responsible for most cases of non-FARIS MG while antibodies binding to two proteins near these nAChRs, i.e., the MuSK protein and low-density lipop ...
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Pediatrics
Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, Adolescence, adolescents, and young adults. In the United Kingdom, pediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A physician, medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children", derived from the two Ancient Greek, Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires reso ...
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Agrin
Agrin is a large proteoglycan whose best-characterised role is in the development of the neuromuscular junction during embryogenesis. Agrin is named based on its involvement in the aggregation of acetylcholine receptors during synaptogenesis. In humans, this protein is encoded by the ''AGRN'' gene. This protein has nine domains homologous to protease inhibitors. It may also have functions in other tissues and during other stages of development. It is a major proteoglycan component in the glomerular basement membrane and may play a role in the renal filtration and cell-matrix interactions. Agrin functions by activating the MuSK protein (for Muscle-Specific Kinase), which is a receptor tyrosine kinase required for the formation and maintenance of the neuromuscular junction. Agrin is required to activate MuSK. Agrin is also required for neuromuscular junction formation. Discovery Agrin was first identified by the U.J. McMahan laboratory, Stanford University. Mechani ...
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Facial Nerve
The facial nerve, also known as the seventh cranial nerve, cranial nerve VII, or simply CN VII, is a cranial nerve that emerges from the pons of the brainstem, controls the muscles of facial expression, and functions in the conveyance of taste sensations from the anterior two-thirds of the tongue. The nerve typically travels from the pons through the facial canal in the temporal bone and exits the skull at the stylomastoid foramen. It arises from the brainstem from an area posterior to the cranial nerve VI (abducens nerve) and anterior to cranial nerve VIII (vestibulocochlear nerve). The facial nerve also supplies preganglionic parasympathetic fibers to several head and neck ganglia. The facial and intermediate nerves can be collectively referred to as the nervus intermediofacialis. The path of the facial nerve can be divided into six segments: # intracranial (cisternal) segment (from brainstem pons to internal auditory canal) # meatal (canalicular) segment (with ...
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Dysphonia
A hoarse voice, also known as dysphonia or hoarseness, is when the voice involuntarily sounds breathy, raspy, or strained, or is softer in volume or lower in pitch. A hoarse voice can be associated with a feeling of unease or scratchiness in the throat. Hoarseness is often a symptom of problems in the vocal folds of the larynx. It may be caused by laryngitis, which in turn may be caused by an upper respiratory infection, a cold, or allergies. Cheering at sporting events, speaking loudly in noisy environments, talking for too long without resting one's voice, singing loudly, or speaking with a voice that is too high or too low can also cause temporary hoarseness. A number of other causes for losing one's voice exist, and treatment is generally by resting the voice and treating the underlying cause. If the cause is misuse or overuse of the voice, drinking plenty of water may alleviate the problems. It appears to occur more commonly in females and the elderly. Furthermore, certain ...
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Dysphagia
Dysphagia is difficulty in swallowing. Although classified under " symptoms and signs" in ICD-10, in some contexts it is classified as a condition in its own right. It may be a sensation that suggests difficulty in the passage of solids or liquids from the mouth to the stomach, a lack of pharyngeal sensation or various other inadequacies of the swallowing mechanism. Dysphagia is distinguished from other symptoms including odynophagia, which is defined as painful swallowing, and globus, which is the sensation of a lump in the throat. A person can have dysphagia without odynophagia (dysfunction without pain), odynophagia without dysphagia (pain without dysfunction) or both together. A psychogenic dysphagia is known as phagophobia. Classification Dysphagia is classified into the following major types: # Oropharyngeal dysphagia # Esophageal and obstructive dysphagia # Neuromuscular symptom complexes # Functional dysphagia is defined in some patients as having no organic c ...
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Medulla Oblongata
The medulla oblongata or simply medulla is a long stem-like structure which makes up the lower part of the brainstem. It is anterior and partially inferior to the cerebellum. It is a cone-shaped neuronal mass responsible for autonomic (involuntary) functions, ranging from vomiting to sneezing. The medulla contains the cardiovascular center, the respiratory center, vomiting and vasomotor centers, responsible for the autonomic functions of breathing, heart rate and blood pressure as well as the sleep–wake cycle. "Medulla" is from Latin, ‘pith or marrow’. And "oblongata" is from Latin, ‘lengthened or longish or elongated'. During embryonic development, the medulla oblongata develops from the myelencephalon. The myelencephalon is a secondary brain vesicle which forms during the maturation of the rhombencephalon, also referred to as the hindbrain. The bulb is an archaic term for the medulla oblongata. In modern clinical usage, the word bulbar (as in bulbar palsy) is r ...
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Brain Stem
The brainstem (or brain stem) is the posterior stalk-like part of the brain that connects the cerebrum with the spinal cord. In the human brain the brainstem is composed of the midbrain, the pons, and the medulla oblongata. The midbrain is continuous with the thalamus of the diencephalon through the tentorial notch, and sometimes the diencephalon is included in the brainstem. The brainstem is very small, making up around only 2.6 percent of the brain's total weight. It has the critical roles of regulating heart and respiratory function, helping to control heart rate and breathing rate. It also provides the main motor and sensory nerve supply to the face and neck via the cranial nerves. Ten pairs of cranial nerves come from the brainstem. Other roles include the regulation of the central nervous system and the body's sleep cycle. It is also of prime importance in the conveyance of motor and sensory pathways from the rest of the brain to the body, and from the body back ...
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Wrist Drop
Wrist drop is a medical condition in which the wrist and the fingers cannot extend at the metacarpophalangeal joints. The wrist remains partially flexed due to an opposing action of flexor muscles of the forearm. As a result, the extensor muscles in the posterior compartment remain paralyzed. Forearm anatomy The forearm is the part of the body that extends from the elbow to the wrist and is not to be confused with the arm, which extends from the shoulder to the elbow. The extensor muscles in the forearm are the extensor carpi ulnaris, extensor digiti minimi, extensor digitorum, extensor indicis, extensor carpi radialis brevis, and extensor carpi radialis longus. These extensor muscles are supplied by the posterior interosseous nerve, a branch of the radial nerve. Other muscles in the forearm that are innervated by this nerve are the supinator, extensor pollicis brevis, extensor pollicis longus and abductor pollicis longus. All of these muscles are situated in the posterior ...
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Eye Movements
Eye movement includes the voluntary or involuntary movement of the eyes. Eye movements are used by a number of organisms (e.g. primates, rodents, flies, birds, fish, cats, crabs, octopus) to fixate, inspect and track visual objects of interests. A special type of eye movement, rapid eye movement, occurs during REM sleep. The eyes are the visual organs of the human body, and move using a system of six muscles. The retina, a specialised type of tissue containing photoreceptors, senses light. These specialised cells convert light into electrochemical signals. These signals travel along the optic nerve fibers to the brain, where they are interpreted as vision in the visual cortex. Primates and many other vertebrates use three types of voluntary eye movement to track objects of interest: smooth pursuit, vergence shifts and saccades. These types of movements appear to be initiated by a small cortical region in the brain's frontal lobe. This is corroborated by removal of ...
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Extraocular Muscles
The extraocular muscles, or extrinsic ocular muscles, are the seven extrinsic muscles of the eye in human eye, humans and other animals. Six of the extraocular muscles, the four recti muscles, and the superior oblique muscle, superior and inferior oblique muscles, control Eye movement, movement of the eye. The other muscle, the Levator palpebrae superioris muscle, levator palpebrae superioris, controls eyelid elevation and depression, elevation. The actions of the six muscles responsible for eye movement depend on the position of the eye at the time of muscle contraction. The ciliary muscle, pupillary sphincter muscle and pupillary dilator muscle sometimes are called intrinsic ocular muscles or intraocular muscles. Structure Since only a small part of the eye called the Fovea centralis, fovea provides sharp vision, the eye must move to follow a target. Eye movements must be precise and fast. This is seen in scenarios like reading, where the reader must shift gaze constantly. Alt ...
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Ophthalmoparesis
Ophthalmoparesis refers to weakness (-paresis) or paralysis (-plegia) of one or more extraocular muscles which are responsible for eye movements. It is a physical finding in certain neurologic, ophthalmologic, and endocrine disease. Internal ophthalmoplegia means involvement limited to the pupillary sphincter and ciliary muscle. External ophthalmoplegia refers to involvement of only the extraocular muscles. Complete ophthalmoplegia indicates involvement of both. Presentation Causes Ophthalmoparesis can result from disorders of various parts of the eye and nervous system: * Infection around the eye. Ophthalmoplegia is an important finding in orbital cellulitis. * The orbit of the eye, including mechanical restrictions of eye movement, as in Graves' disease. * The muscle, as in progressive external ophthalmoplegia or Kearns–Sayre syndrome. * The neuromuscular junction, as in myasthenia gravis. * The relevant cranial nerves (specifically the oculomotor, trochlear, and ...
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Diplopia
Diplopia is the simultaneous perception of two images of a single object that may be displaced in relation to each other. Also called double vision, it is a loss of visual focus under regular conditions, and is often voluntary. However, when occurring involuntarily, it results from impaired function of the extraocular muscles, where both eyes are still functional, but they cannot turn to target the desired object. Problems with these muscles may be due to mechanical problems, disorders of the neuromuscular junction, disorders of the cranial nerves ( III, IV, and VI) that innervate the muscles, and occasionally disorders involving the supranuclear oculomotor pathways or ingestion of toxins. Diplopia can be one of the first signs of a systemic disease, particularly to a muscular or neurological process, and it may disrupt a person's balance, movement, or reading abilities. Causes Diplopia has a diverse range of ophthalmologic, infectious, autoimmune, neurological, and neoplasti ...
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