Primary Lateral Sclerosis
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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 Accident-proneness, clumsiness. Other common symptoms are spasticity (involuntary muscle contraction due to the stretching of muscle, ...
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Neuromuscular Disease
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, 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 500 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 weakness, muscle atrophy, myalgia (muscle pain), and fasciculations (muscle twitches). Causes Neuromuscular disease can be caused by autoimmune disorders, genetic/hereditary disorders and some forms of the collagen disorder Ehlers–Dan ...
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Neuropsychological Testing
Neuropsychological tests are specifically designed tasks that are used to measure a psychological function known to be linked to a particular brain structure or pathway. Tests are used for research into brain function and in a clinical setting for the diagnosis of deficits. They usually involve the systematic administration of clearly defined procedures in a formal environment. Neuropsychological tests are typically administered to a single person working with an examiner in a quiet office environment, free from distractions. As such, it can be argued that neuropsychological tests at times offer an estimate of a person's peak level of cognitive performance. Neuropsychological tests are a core component of the process of conducting neuropsychological assessment, along with personal, interpersonal and contextual factors. Most neuropsychological tests in current use are based on traditional psychometric theory. In this model, a person's raw score on a test is compared to a large gen ...
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Motor Neuron Diseases
Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. They include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS. Motor neuron diseases affect both children and adults. While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness. Most of these diseases seem to occur randomly without known causes, but some forms are inherited. Studies into these inherited forms have led to discoveries of various genes (e.g. ''SOD1'') that are thought to be important in understanding how the disease occurs. Symptoms of motor neuron diseases can be first seen at birth or can ...
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Assistive Cane
An assistive cane is a walking stick used as a crutch or mobility aid. A cane can help redistribute weight from a lower leg that is weak or painful, improve stability by increasing the base of support, and provide tactile information about the ground to improve balance. In the US, ten percent of adults older than 65 years use a cane, and 4.6 percent use walkers. In contrast to crutches, canes are generally lighter, but, because they transfer the load through the user's unsupported wrist, are unable to offload equal loads from the legs. Another type of crutch is the walker, a frame held in front of the user and which the user leans on during movement. Walkers are more stable due to their increased area of ground contact, but are larger and less wieldy and, like canes, pass the full load through the user's wrists in most cases. Parts of medical canes The basic cane has four parts. These parts vary depending on the design of the cane and the needs of the user. * Handle. The ...
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Wheelchairs
A wheelchair is a chair with wheels, used when walking is difficult or impossible due to illness, injury, problems related to old age, or disability. These can include spinal cord injuries ( paraplegia, hemiplegia, and quadriplegia), cerebral palsy, brain injury, osteogenesis imperfecta, motor neurone disease, multiple sclerosis, muscular dystrophy, spina bifida, and more. Wheelchairs come in a wide variety of formats to meet the specific needs of their users. They may include specialized seating adaptions, individualized controls, and may be specific to particular activities, as seen with sports wheelchairs and beach wheelchairs. The most widely recognized distinction is between motorized wheelchairs, where propulsion is provided by batteries and electric motors, and manual wheelchairs, where the propulsive force is provided either by the wheelchair user or occupant pushing the wheelchair by hand ("self-propelled"), by an attendant pushing from the rear using the handle(s), ...
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Cerebrospinal Fluid
Cerebrospinal fluid (CSF) is a clear, colorless body fluid found within the tissue that surrounds the brain and spinal cord of all vertebrates. CSF is produced by specialised ependymal cells in the choroid plexus of the ventricles of the brain, and absorbed in the arachnoid granulations. There is about 125 mL of CSF at any one time, and about 500 mL is generated every day. CSF acts as a shock absorber, cushion or buffer, providing basic mechanical and immunological protection to the brain inside the skull. CSF also serves a vital function in the cerebral autoregulation of cerebral blood flow. CSF occupies the subarachnoid space (between the arachnoid mater and the pia mater) and the ventricular system around and inside the brain and spinal cord. It fills the ventricles of the brain, cisterns, and sulci, as well as the central canal of the spinal cord. There is also a connection from the subarachnoid space to the bony labyrinth of the inner ear via the perilymphat ...
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Phenytoin
Phenytoin (PHT), sold under the brand name Dilantin among others, is an anti-seizure medication. It is useful for the prevention of tonic-clonic seizures (also known as grand mal seizures) and focal seizures, but not absence seizures. The intravenous form, fosphenytoin, is used for status epilepticus that does not improve with benzodiazepines. It may also be used for certain heart arrhythmias or neuropathic pain. It can be taken intravenously or by mouth. The intravenous form generally begins working within 30 minutes and is effective for roughly 24 hours. Blood levels can be measured to determine the proper dose. Common side effects include nausea, stomach pain, loss of appetite, poor coordination, increased hair growth, and enlargement of the gums. Potentially serious side effects include sleepiness, self harm, liver problems, bone marrow suppression, low blood pressure, and toxic epidermal necrolysis. There is evidence that use during pregnancy results in abnormalities ...
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Quinine
Quinine is a medication used to treat malaria and babesiosis. This includes the treatment of malaria due to ''Plasmodium falciparum'' that is resistant to chloroquine when artesunate is not available. While sometimes used for nocturnal leg cramps, quinine is not recommended for this purpose due to the risk of serious side effects. It can be taken by mouth or intravenously. Malaria resistance to quinine occurs in certain areas of the world. Quinine is also used as an ingredient in tonic water to impart a bitter taste. Common side effects include headache, ringing in the ears, vision issues, and sweating. More severe side effects include deafness, low blood platelets, and an irregular heartbeat. Use can make one more prone to sunburn. While it is unclear if use during pregnancy causes harm to the baby, treating malaria during pregnancy with quinine when appropriate is still recommended. Quinine is an alkaloid, a naturally occurring chemical compound. How it works as a medicin ...
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Tizanidine
Tizanidine, sold under the brand name Zanaflex among others, is a medication that is used to treat muscle spasticity due to spinal cord injury or multiple sclerosis as well as spastic cerebral palsy. Effectiveness appears similar to baclofen or diazepam. It is taken by mouth. Common side effects of Tizanidine include dry mouth, sleepiness, weakness, and dizziness. Serious side effects may include low blood pressure, liver problems, psychosis, and QT prolongation. It is unclear if use in pregnancy and breastfeeding is safe. It is an α2-adrenergic agonist and how it works is not entirely clear. Tizanidine was approved for medical use in the United States in 1996. It is available as a generic medication. In 2020, it was the 84th most commonly prescribed medication in the United States, with more than 8million prescriptions. Medical uses Tizanidine has been found to be as effective as other antispasmodic drugs and is more tolerable than baclofen and diazepam. Side effects ...
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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 ...
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Mayo Clinic
The Mayo Clinic () is a nonprofit American academic medical center focused on integrated health care, education, and research. It employs over 4,500 physicians and scientists, along with another 58,400 administrative and allied health staff, across three major campuses: Rochester, Minnesota; Jacksonville, Florida; and Phoenix/Scottsdale, Arizona. The practice specializes in treating difficult cases through tertiary care and destination medicine. It is home to the top-15 ranked Mayo Clinic Alix School of Medicine in addition to many of the highest regarded residency education programs in the United States. It spends over $660 million a year on research and has more than 3,000 full-time research personnel. William Worrall Mayo settled his family in Rochester in 1864 and opened a sole proprietorship medical practice that evolved under his sons, Will and Charlie Mayo, along with practice partners Stinchfield, Graham, Plummer, Millet, Judd, and Balfour, into Mayo Clinic. Toda ...
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ALS2
Alsin is a protein that in humans is encoded by the ''ALS2'' gene. ''ALS2'' orthologs have been identified in all mammals for which complete genome data are available. See also * Juvenile primary lateral sclerosis * 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 comm ... References Further reading * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders OMIM entries on ALS2-Related Disorders Genetics Home Reference- US National Library of Medicine®
* {{gene-2-stub ...
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