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Progressive Muscular Atrophy
Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function. PMA is classified among motor neuron diseases (MND) where it is thought to account for around 4% of all MND cases. PMA affects only the lower motor neurons, in contrast to amyotrophic lateral sclerosis (ALS), the most common MND, which affects both the upper and lower motor neurons, or primary lateral sclerosis, another MND, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than ALS. Signs and symptoms As a result of lower motor neuron degeneration, the symptoms of PMA include: * muscle weakness * muscle atrophy * fasciculations Some patients have symptoms restricted only to the arms or legs (or in some cases just one of either). These cases are referred to as flai ...
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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 neurosurger ...
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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 ...
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Primary Lateral Sclerosis
Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control. PLS only affects upper motor neurons. There is no evidence of the degeneration of spinal motor neurons or muscle wasting ( amyotrophy) that occurs in amyotrophic lateral sclerosis (ALS). Symptoms and signs Onset of PLS usually occurs spontaneously after age 50 and progresses gradually over a number of years, or even decades. The disorder usually begins in the legs, but it may start in the tongue or the hands. Symptoms may include difficulty with balance, weakness and stiffness in the legs, and clumsiness. Other common symptoms are spasticity (involuntary muscle contraction due to the stretching of muscle, which depends on ...
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Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common type of motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. ''Limb-onset ALS'' begins with weakness in the arms or legs, while ''bulbar-onset ALS'' begins with difficulty speaking or swallowing. Half of the people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Most people experience pain. The affected muscles are responsible for chewing food, speaking, and walking. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost. ALS eventually causes paralysis and early death, usually from respiratory failure. Most cases of ALS ...
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Scientific Literature
: ''For a broader class of literature, see Academic publishing.'' Scientific literature comprises scholarly publications that report original empirical and theoretical work in the natural and social sciences. Within an academic field, scientific literature is often referred to as the literature. Academic publishing is the process of contributing the results of one's research into the literature, which often requires a peer-review process. Original scientific research published for the first time in scientific journals is called the primary literature. Patents and technical reports, for minor research results and engineering and design work (including computer software), can also be considered primary literature. Secondary sources include review articles (which summarize the findings of published studies to highlight advances and new lines of research) and books (for large projects or broad arguments, including compilations of articles). Tertiary sources might include ...
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Spinal Muscular Atrophies
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. While some SMAs lead to early infant death, other diseases of this group permit normal adult life with only mild weakness. Classification Based on the type of muscles affected, spinal muscular atrophies can be divided into: * ''Proximal spinal muscular atrophies'', i.e., conditions that affect primarily proximal muscles; * ''Distal spinal muscular atrophies'' (which significantly overlap with distal hereditary motor neuronopathies) where they affect primarily distal muscles. When taking into account prevalence, spinal muscular atrophies are traditionally divided into: * '' Autosomal recessive proximal spinal muscular atrophy'', responsible for 90-95% of cases and usu ...
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Duchenne De Boulogne
Guillaume-Benjamin-Amand Duchenne (de Boulogne) (September 17, 1806 in Boulogne-sur-Mer – September 15, 1875 in Paris) was a French neurologist who revived Galvani's research and greatly advanced the science of electrophysiology. The era of modern neurology developed from Duchenne's understanding of neural pathways and his diagnostic innovations including deep tissue biopsy, nerve conduction tests ( NCS), and clinical photography. This extraordinary range of activities (mostly in the Salpêtrière) was achieved against the background of a troubled personal life and a generally indifferent medical and scientific establishment. Neurology did not exist in France before Duchenne and although many medical historians regard Jean-Martin Charcot as the father of the discipline, Charcot owed much to Duchenne, often acknowledging him as "''mon maître en neurologie''" (my master in neurology). The American neurologist Dr. Joseph Collins (1866–1950) wrote that Duchenne found neurolog ...
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François-Amilcar Aran
François-Amilcar Aran (12 July 1817, in Bordeaux – 22 February 1861, in Paris) was a French physician. He studied medicine in Bordeaux and received his doctorate in Paris with a thesis on heart palpitations. In Paris he subsequently became a hospital physician and a professor agrégé. He worked as a deputy physician to Léon Louis Rostan at the Hôtel-Dieu, where he held popular clinical lectures. He also distinguished himself in his work performed at the Hôpital Saint-Antoine.François-Amilcar Aran
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Babinski Sign
The plantar reflex is a reflex elicited when the sole of the foot is stimulated with a blunt instrument. The reflex can take one of two forms. In healthy adults, the plantar reflex causes a downward response of the hallux (flexion). An upward response (extension) of the hallux is known as the Babinski response or Babinski sign, named after the neurologist Joseph Babinski. The presence of the Babinski sign can identify disease of the spinal cord and brain in adults, and also exists as a primitive reflex in infants. While first described in the medical literature by Babinski in 1896, the reflex has been identified in art at least as early as Botticelli's '' Virgin and Child with an Angel'', painted in the mid-15th century. Methods The lateral side of the sole of the foot is rubbed with a blunt instrument or device so as not to cause pain, discomfort, or injury to the skin; the instrument is run from the heel along a curve to the toes (metatarsal pads). Many reflex hammers tap ...
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Motor Neuron
A motor neuron (or motoneuron or efferent neuron) is a neuron whose cell body is located in the motor cortex, brainstem or the spinal cord, and whose axon (fiber) projects to the spinal cord or outside of the spinal cord to directly or indirectly control effector organs, mainly muscles and glands. There are two types of motor neuron – upper motor neurons and lower motor neurons. Axons from upper motor neurons synapse onto interneurons in the spinal cord and occasionally directly onto lower motor neurons. The axons from the lower motor neurons are efferent nerve fibers that carry signals from the spinal cord to the effectors. Types of lower motor neurons are alpha motor neurons, beta motor neurons, and gamma motor neurons. A single motor neuron may innervate many muscle fibres and a muscle fibre can undergo many action potentials in the time taken for a single muscle twitch. Innervation takes place at a neuromuscular junction and twitches can become superimposed as a ...
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Insurance Contract
In insurance, the insurance policy is a contract (generally a standard form contract) between the insurer and the policyholder, which determines the claims which the insurer is legally required to pay. In exchange for an initial payment, known as the premium, the insurer promises to pay for loss caused by perils covered under the policy language. Insurance contracts are designed to meet specific needs and thus have many features not found in many other types of contracts. Since insurance policies are standard forms, they feature boilerplate language which is similar across a wide variety of different types of insurance policies. Available through HeinOnline. The insurance policy is generally an integrated contract, meaning that it includes all forms associated with the agreement between the insured and insurer.Wollner KS. (1999). How to Draft and Interpret Insurance Policies. Casualty Risk Publishing LLC. In some cases, however, supplementary writings such as letters sent after ...
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Clinical Trial
Clinical trials are prospective biomedical or behavioral research studies on human participants designed to answer specific questions about biomedical or behavioral interventions, including new treatments (such as novel vaccines, drugs, dietary choices, dietary supplements, and medical devices) and known interventions that warrant further study and comparison. Clinical trials generate data on dosage, safety and efficacy. They are conducted only after they have received health authority/ethics committee approval in the country where approval of the therapy is sought. These authorities are responsible for vetting the risk/benefit ratio of the trial—their approval does not mean the therapy is 'safe' or effective, only that the trial may be conducted. Depending on product type and development stage, investigators initially enroll volunteers or patients into small pilot studies, and subsequently conduct progressively larger scale comparative studies. Clinical trials can va ...
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