Amyotrophic Lateral Sclerosis
Superoxide Dismutase
Motor Neuron Disease
RNA-Binding Protein FUS
Multiple Sclerosis
Spinal Cord
DNA Repeat Expansion
Frontotemporal Dementia
Guam
Riluzole
Frontotemporal Lobar Degeneration
Inclusion Bodies
Mice, Transgenic
Nerve Degeneration
Disease Models, Animal
Neurodegenerative Diseases
Mutation
Fasciculation
TDP-43 Proteinopathies
Anterior Horn Cells
Sclerosis
Bulbar Palsy, Progressive
Neurofilament Proteins
Disease Progression
Rats, Transgenic
Brain
Age of Onset
Tuberous Sclerosis
Lithium Carbonate
Mutation, Missense
Cycas
Astrocytes
Neurons
Neuroprotective Agents
Excitatory Amino Acid Transporter 2
DNA-Binding Proteins
Microglia
Pyramidal Tracts
Pseudobulbar Palsy
Rotarod Performance Test
Noninvasive Ventilation
Amino Acid Substitution
Ribonuclease, Pancreatic
Axonal Transport
Neuromuscular Diseases
Case-Control Studies
Animals, Genetically Modified
Muscle Weakness
Mitochondria
Cell Death
Peripherins
Scleroderma, Systemic
Phenotype
Electromyography
Laughter
Magnetic Resonance Imaging
Dementia
Neuroglia
Central Nervous System
Parkinson Disease
Pedigree
Paralysis
Communication Aids for Disabled
Copper
Tracheostomy
Glial Fibrillary Acidic Protein
Gliosis
Muscle, Skeletal
Glutamic Acid
Chromosomes, Human, Pair 9
Ubiquitin
Immunohistochemistry
Atrophy
Motor Cortex
Genetic Predisposition to Disease
Pyrazolones
Respiratory Insufficiency
Muscular Atrophy, Spinal
Oxidative Stress
Nervous System Diseases
Glycine
Multiple Sclerosis, Chronic Progressive
Cell Survival
Proteins
Neuroimaging
A clinical study of motor evoked potentials using a triple stimulation technique. (1/1872)
Amplitudes of motor evoked potentials (MEPs) are usually much smaller than those of motor responses to maximal peripheral nerve stimulation, and show marked variation between normal subjects and from one stimulus to another. Consequently, amplitude measurements have low sensitivity to detect central motor conduction failures due to the broad range of normal values. Since these characteristics are mostly due to varying desynchronization of the descending action potentials, causing different degrees of phase cancellation, we applied the recently developed triple stimulation technique (TST) to study corticospinal conduction to 489 abductor digiti minimi muscles of 271 unselected patients referred for possible corticospinal dysfunction. The TST allows resynchronization of the MEP, and thereby a quantification of the proportion of motor units activated by the transcranial stimulus. TST results were compared with those of conventional MEPs. In 212 of 489 sides, abnormal TST responses suggested conduction failure of various degrees. By contrast, conventional MEPs detected conduction failures in only 77 of 489 sides. The TST was therefore 2.75 times more sensitive than conventional MEPs in disclosing corticospinal conduction failures. When the results of the TST and conventional MEPs were combined, 225 sides were abnormal: 145 sides showed central conduction failure, 13 sides central conduction slowing and 67 sides both conduction failure and slowing. It is concluded that the TST is a valuable addition to the study of MEPs, since it improves detection and gives quantitative information on central conduction failure, an abnormality which appears to be much more frequent than conduction slowing. This new technique will be useful in following the natural course and the benefit of treatments in disorders affecting central motor conduction. (+info)Nitric oxide, mitochondria and neurological disease. (2/1872)
Damage to the mitochondrial electron transport chain has been suggested to be an important factor in the pathogenesis of a range of neurological disorders, such as Parkinson's disease, Alzheimer's disease, multiple sclerosis, stroke and amyotrophic lateral sclerosis. There is also a growing body of evidence to implicate excessive or inappropriate generation of nitric oxide (NO) in these disorders. It is now well documented that NO and its toxic metabolite, peroxynitrite (ONOO-), can inhibit components of the mitochondrial respiratory chain leading, if damage is severe enough, to a cellular energy deficiency state. Within the brain, the susceptibility of different brain cell types to NO and ONOO- exposure may be dependent on factors such as the intracellular reduced glutathione (GSH) concentration and an ability to increase glycolytic flux in the face of mitochondrial damage. Thus neurones, in contrast to astrocytes, appear particularly vulnerable to the action of these molecules. Following cytokine exposure, astrocytes can increase NO generation, due to de novo synthesis of the inducible form of nitric oxide synthase (NOS). Whilst the NO/ONOO- so formed may not affect astrocyte survival, these molecules may diffuse out to cause mitochondrial damage, and possibly cell death, to other cells, such as neurones, in close proximity. Evidence is now available to support this scenario for neurological disorders, such as multiple sclerosis. In other conditions, such as ischaemia, increased availability of glutamate may lead to an activation of a calcium-dependent nitric oxide synthase associated with neurones. Such increased/inappropriate NO formation may contribute to energy depletion and neuronal cell death. The evidence available for NO/ONOO--mediated mitochondrial damage in various neurological disorders is considered and potential therapeutic strategies are proposed. (+info)The role of immunophilins in mutant superoxide dismutase-1linked familial amyotrophic lateral sclerosis. (3/1872)
It has been reported that expression of familial amyotrophic lateral sclerosis (FALS)-associated mutant Cu/Zn superoxide dismutase-1 (SOD) induces apoptosis of neuronal cells in culture associated with an increase in reactive oxygen species. SOD recently has been shown to prevent calcineurin inactivation, initiating the present investigations examining the role of calcineurin in mutant SOD-induced cell death. Wild-type or mutant SOD was expressed in neuronal cells by infection with replication-deficient adenoviruses. PC12 cells overexpressing human wild-type SOD exhibited higher calcineurin activity than cells expressing FALS-related mutant SOD (SODV148G); however, cells expressing SODV148G had calcineurin activity equal to mock-infected cells, suggesting that cell death induced by mutant SOD was not related to a decrease in calcineurin activity. Calcineurin antagonists such as cyclosporin A and FK506, as well as nonimmunosuppressant analogs of cyclosporin A, significantly enhanced SODV148G- and SODA4V-induced cell death. Because both groups of drugs inhibit the rotamase activity of cyclophilins (CyP), but only the immunosuppressant analogs inhibit calcineurin activity, these data suggest that rotamase inhibition underlies the enhanced cell death after SODV148G expression. The importance of rotamase activity in mutant SOD-mediated apoptosis was supported by experiments showing that overexpressed wild-type cyclophilin A (CyPA), but not CyPA with a rotamase active site point mutation, protected cells from death after SODV148G expression. These data suggest that mutant SOD produces a greater need for rotamase and, also, highlights possible new therapeutic strategies in FALS. (+info)Release of copper ions from the familial amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutants. (4/1872)
Point mutations of Cu,Zn-superoxide dismutase (SOD) have been linked to familial amyotrophic lateral sclerosis (FALS). We reported that the Swedish FALS Cu,Zn-SOD mutant, D90A, exhibited an enhanced hydroxyl radical-generating activity, while its dismutation activity was identical to that of the wild-type enzyme (Kim et al. 1998a; 1998b). Transgenic mice that express a mutant Cu,Zn-SOD, Gly93 --> Ala (G93A), have been shown to develop amyotrophic lateral sclerosis (ALS) symptoms. We cloned the cDNA for the FALS G93A mutant, overexpressed the protein in E. coli cells, purified the protein, and studied its enzymic activities. Our results showed that the G93A, the D90A, and the wild-type enzymes have identical dismutation activity. However, the hydroxyl radical-generating activity of the G93A mutant was enhanced relative to those of the D90A and the wild-type enzyme (wild-type < D90A < G93A). These higher free radical-generating activities of mutants facilitated the release of copper ions from their own molecules (wild-type < D90A < G93A). The released copper ions can enhance the Fenton-like reaction to produce hydroxyl radicals and play a major role in the oxidative damage of macromolecules. Thus, the FALS symptoms may be associated with the enhancements in both the free radical-generating activity and the releasing of copper ions from the mutant enzyme. (+info)Amyotrophic lateral sclerosis: Lou Gehrig's disease. (5/1872)
Amyotrophic lateral sclerosis (ALS), commonly called Lou Gehrig's disease, is a progressive neuromuscular condition characterized by weakness, muscle wasting, fasciculations and increased reflexes. Approximately 30,000 Americans currently have the disease. The annual incidence rate is one to two cases per 100,000. The disease is most commonly diagnosed in middle age and affects more men than women. It usually presents with problems in dexterity or gait resulting from muscle weakness. Difficulty in speaking or swallowing is the initial symptom in the bulbar form of the disease. Over a period of months or years, patients with ALS develop severe, progressive muscular weakness and other symptoms caused by loss of function in both upper and lower motor neurons. Sphincter control, sensory function, intellectual abilities and skin integrity are preserved. Patients become completely disabled, often requiring ventilatory support and gastrostomy. Death usually occurs within five years of diagnosis and is attributed to respiratory failure or cachexia. The etiology of the disease is unknown. Current research is focused on abnormalities of neuronal cell metabolism involving glutamate and the role of potential neurotoxins and neurotrophic factors. New drugs are being developed based on these theories. Current management involves aggressive, individualized alleviation of symptoms and complications. (+info)Atypical form of amyotrophic lateral sclerosis. (6/1872)
OBJECTIVE: To investigate patients with an unusual type of muscular atrophy confined to the upper limbs (proximally dominant) and the shoulder girdle, while sparing the face and the legs until the terminal stage. METHODS: Eight patients (six men and two women) were clinically examined. The age at onset ranged from 42 to 73 years, and the clinical course varied from 28 to 81 months. There was no family history of motor neuron disease in any of these patients. Necropsy was performed in two of them. RESULTS: All eight patients basically showed a similar distribution of muscular weakness and atrophy. Subluxation of the shoulder joints was found in all patients. Reflexes were absent in the upper limbs in all patients, but were almost normal in the face and legs in most patients. Pathological reflexes could be elicited in only one patient. Electromyography showed typical neurogenic changes in the limbs of all patients. Cervical MRI disclosed moderate spondylotic changes in seven patients. Antiganglioside antibodies were negative in six patients tested. Abnormal trinucleotide (CAG) repeat expansion of androgen receptor gene was not recognised in five patients examined. Bulbar involvement developed in three patients during the course of the disease. At necropsy, one patient showed degeneration of the pyramidal tracts and motor cortex including Betz cells as well as loss of spinal anterior horn cells and brainstem motor neurons, which is consistent with ALS; in another patient there was neuronal loss of anterior horn cells at the spinal cord accompanied by astrogliosis, whereas the motor cortex and brainstem motor nuclei were relatively well preserved. Intracytoplasmic inclusions such as Bunina bodies, skein-like inclusions, and Lewy body-like inclusions were found in both patients. CONCLUSION: These patients with their peculiar pattern of muscular atrophy seem to have ALS or a subtype of ALS. (+info)Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. (7/1872)
Mutations in superoxide dismutase 1 (SOD1) polypeptides cause a form of familial amyotrophic lateral sclerosis (FALS). In different kindreds, harboring different mutations, the duration of illness tends to be similar for a given mutation. For example, patients inheriting a substitution of valine for alanine at position four (A4V) average a 1.5 year life expectancy after the onset of symptoms, whereas patients harboring a substitution of arginine for histidine at position 46 (H46R) average an 18 year life expectancy after disease onset. Here, we examine a number of biochemical and biophysical properties of nine different FALS variants of SOD1 polypeptides, including enzymatic activity (which relates indirectly to the affinity of the enzyme for copper), polypeptide half-life, resistance to proteolytic degradation and solubility, in an effort to determine whether a specific property of these enzymes correlates with clinical progression. We find that although all the mutants tested appear to be soluble, the different mutants show a remarkable degree of variation with respect to activity, polypeptide half-life and resistance to proteolysis. However, these variables do not stratify in a manner that correlates with clinical progression. We conclude that the basis for the different life expectancies of patients in different kindreds of sod1-linked FALS may result from an as yet unidentified property of these mutant enzymes. (+info)Extrapyramidal involvement in amyotrophic lateral sclerosis: backward falls and retropulsion. (8/1872)
Three patients with sporadic amyotrophic lateral sclerosis (ALS) presented with a history of backward falls. Impaired postural reflexes and retropulsion accompanied clinical features of ALS. Hypokinesia, decreased arm swing, and a positive glabellar tap were noted in two of these three patients. Cognitive impairment, tremor, axial rigidity, sphincter dysfunction, nuchal dystonia, dysautonomia, and oculomotor dysfunction were absent. Brain MRI disclosed bilateral T2 weighted hyperintensities in the internal capsule and globus pallidus in one patient. Necropsy studies performed late in the course of ALS have shown degeneration in extrapyramidal sites-for example, the globus pallidus, thalamus, and substantia nigra. Clinically, backward falls and retropulsion may occur early in ALS. This may reflect extrapyramidal involvement. (+info)ALS is caused by a breakdown of the nerve cells responsible for controlling voluntary muscle movement, leading to muscle atrophy and loss of motor function. The disease can affect anyone, regardless of age or gender, but it is most common in people between the ages of 55 and 75.
The symptoms of ALS can vary from person to person, but they typically include:
* Muscle weakness or twitching
* Muscle wasting or atrophy
* Loss of motor function, such as difficulty walking, speaking, or swallowing
* Slurred speech or difficulty with language processing
* Weakness or paralysis of the limbs
* Difficulty with balance and coordination
* Fatigue and weakness
* Cognitive changes, such as memory loss and decision-making difficulties
There is currently no cure for ALS, but there are several treatments available to help manage the symptoms and slow the progression of the disease. These include:
* Riluzole, a medication that reduces the amount of glutamate in the brain, which can slow down the progression of ALS
* Physical therapy, to maintain muscle strength and function as long as possible
* Occupational therapy, to help with daily activities and assistive devices
* Speech therapy, to improve communication and swallowing difficulties
* Respiratory therapy, to manage breathing problems
* Nutritional support, to ensure adequate nutrition and hydration
The progression of ALS can vary greatly from person to person, but on average, people with the disease live for 2-5 years after diagnosis. However, some people may live for up to 10 years or more with the disease. The disease is usually diagnosed through a combination of medical history, physical examination, and diagnostic tests such as electromyography (EMG) and magnetic resonance imaging (MRI).
There is ongoing research into the causes of ALS and potential treatments for the disease. Some promising areas of research include:
* Gene therapy, to repair or replace the faulty genes that cause ALS
* Stem cell therapy, to promote the growth of healthy cells in the body
* Electrical stimulation, to improve muscle function and strength
* New medications, such as antioxidants and anti-inflammatory drugs, to slow down the progression of ALS
Overall, while there is currently no cure for ALS, there are several treatments available to help manage the symptoms and slow the progression of the disease. Ongoing research offers hope for new and more effective treatments in the future.
MND is often fatal, usually within 2-5 years of diagnosis. There is currently no cure for MND, although various treatments and therapies can help manage the symptoms and slow its progression.
The most common types of MND are amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). ALS is characterized by rapid degeneration of motor neurons in the brain and spinal cord, leading to muscle weakness and paralysis. PLS is a slower-progressing form of MND that affects only the lower motor neurons.
MND can be caused by a variety of factors, including genetics, age, and exposure to toxins. It is often diagnosed through a combination of medical history, physical examination, and diagnostic tests such as electromyography (EMG) and magnetic resonance imaging (MRI).
There is ongoing research into the causes and potential treatments for MND, including stem cell therapy, gene therapy, and drugs that target specific molecules involved in the disease process.
The symptoms of MS can vary widely depending on the location and severity of the damage to the CNS. Common symptoms include:
* Weakness, numbness, or tingling in the limbs
* Fatigue
* Vision problems, such as blurred vision, double vision, or loss of vision
* Difficulty with balance and coordination
* Tremors or spasticity
* Memory and concentration problems
* Mood changes, such as depression or mood swings
* Bladder and bowel problems
There is no cure for MS, but various treatments can help manage the symptoms and slow the progression of the disease. These treatments include:
* Disease-modifying therapies (DMTs) - These medications are designed to reduce the frequency and severity of relapses, and they can also slow the progression of disability. Examples of DMTs include interferons, glatiramer acetate, natalizumab, fingolimod, dimethyl fumarate, teriflunomide, and alemtuzumab.
* Steroids - Corticosteroids can help reduce inflammation during relapses, but they are not a long-term solution.
* Pain management medications - Pain relievers, such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs), can help manage pain caused by MS.
* Muscle relaxants - These medications can help reduce spasticity and tremors.
* Physical therapy - Physical therapy can help improve mobility, balance, and strength.
* Occupational therapy - Occupational therapy can help with daily activities and assistive devices.
* Speech therapy - Speech therapy can help improve communication and swallowing difficulties.
* Psychological counseling - Counseling can help manage the emotional and psychological aspects of MS.
It's important to note that each person with MS is unique, and the best treatment plan will depend on the individual's specific symptoms, needs, and preferences. It's essential to work closely with a healthcare provider to find the most effective treatment plan.
There are several subtypes of FTD, each with distinct clinical features and rates of progression. The most common subtypes include:
1. Behavioral variant FTD (bvFTD): This subtype is characterized by changes in personality, behavior, and social conduct, such as a lack of empathy, impulsivity, and aggression.
2. Language variant FTD (lvFTD): This subtype is characterized by progressive language decline, including difficulty with word-finding, syntax, and comprehension.
3. Primary progressive agrammatic alexia (PPA): This subtype is characterized by progressive loss of language abilities, including grammar and word retrieval.
4. Progressive supranuclear palsy (PSP): This subtype is characterized by slow movement, rigidity, and dementia, with a higher risk of developing parkinsonism.
The exact cause of FTD is not yet fully understood, but it is believed to be linked to abnormal protein accumulation in the brain, including tau and TDP-43 proteins. There is currently no cure for FTD, but various medications and therapies can help manage its symptoms and slow its progression.
FTD can be challenging to diagnose, as it can resemble other conditions such as Alzheimer's disease or frontal lobe lesions. A definitive diagnosis is typically made through a combination of clinical evaluation, neuroimaging, and pathological analysis of brain tissue after death.
FTD has a significant impact on patients and their families, affecting not only cognitive function but also behavior, mood, and social relationships. It can also place a significant burden on caregivers, who may need to provide around-the-clock support and assistance.
Overall, FTD is a complex and heterogeneous disorder that requires further research to better understand its causes, improve diagnostic accuracy, and develop effective treatments.
There are several subtypes of FTLD, including:
1. Behavioral variant FTLD (bvFTD): This is the most common subtype, accounting for about 70% of all cases. It is characterized by changes in personality, behavior, and language, as well as a decline in executive functions such as planning and decision-making.
2. Linguistic variant FTLD (lvFTD): This subtype is characterized by progressive difficulty with language, including agrammatism (difficulty producing grammatically correct sentences), anomia (word-finding difficulties), and semantic decline.
3. Progressive supranuclear palsy (PSP): This subtype is characterized by progressive damage to the brainstem and cerebellum, leading to difficulty with movement, balance, and eye movements.
4. Pick's disease: This is a rare subtype of FTLD that is characterized by atrophy of the frontal and temporal lobes, leading to memory loss, confusion, and changes in personality.
FTLD is caused by the degeneration of neurons in the frontal and temporal lobes, which can be due to various factors such as genetics, environmental factors, or a combination of both. The exact cause of FTLD is not yet fully understood, but research suggests that it may be related to the accumulation of abnormal protein aggregates in the brain.
There is currently no cure for FTLD, and treatment is primarily focused on managing symptoms and improving quality of life. Medications such as cholinesterase inhibitors and memantine may be used to manage cognitive and behavioral symptoms, while speech and language therapy may be helpful for individuals with linguistic variant FTLD.
FTLD is a relatively rare disorder, and the prevalence is not well established. However, it is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals worldwide. FTLD can affect anyone, regardless of age or gender, but it is more common in older adults.
The prognosis for FTLD is generally poor, with a median survival time of approximately 3-5 years after onset of symptoms. However, the course of the disease can vary widely, and some individuals may survive for many years with relatively mild symptoms, while others may experience rapid decline and death within a few years.
FTLD is often misdiagnosed or underdiagnosed, as it can resemble other conditions such as Alzheimer's disease or frontotemporal dementia. A definitive diagnosis of FTLD requires an autopsy after death, but there are several clinical and imaging markers that can help support a diagnosis during life. These include:
1. Clinical features: FTLD is characterized by a distinct set of cognitive and behavioral symptoms, including changes in personality, language, and social behavior.
2. Imaging markers: FTLD is associated with atrophy of the frontal and temporal lobes, which can be visualized on MRI scans.
3. Genetic testing: Many cases of FTLD are caused by mutations in genes that are involved in the formation and maintenance of synapses, such as the progranulin gene.
4. Electrophysiological markers: FTLD can be associated with abnormalities in brain activity, such as changes in electroencephalography (EEG) or magnetoencephalography (MEG).
There is currently no cure for FTLD, but there are several medications and therapies that can help manage its symptoms and slow its progression. These include:
1. Cholinesterase inhibitors: These drugs, such as donepezil and rivastigmine, can improve cognitive function and slow decline in some individuals with FTLD.
2. Memantine: This medication can help manage neuropsychiatric symptoms, such as agitation and aggression, and may also have a small beneficial effect on cognition.
3. Physical therapy and occupational therapy: These interventions can help individuals with FTLD maintain their physical abilities and perform daily activities.
4. Speech therapy: This can help improve communication and address swallowing difficulties.
5. Psychotherapy: Cognitive-behavioral therapy (CBT) and other forms of psychotherapy can help individuals with FTLD cope with the emotional and behavioral changes associated with the disease.
It is important to note that these treatments may not be effective for all individuals with FTLD, and their effectiveness can vary depending on the specific type of FTLD and the individual's overall health. Research into new and more effective treatments for FTLD is ongoing.
There are many different types of nerve degeneration that can occur in various parts of the body, including:
1. Alzheimer's disease: A progressive neurological disorder that affects memory and cognitive function, leading to degeneration of brain cells.
2. Parkinson's disease: A neurodegenerative disorder that affects movement and balance, caused by the loss of dopamine-producing neurons in the brain.
3. Amyotrophic lateral sclerosis (ALS): A progressive neurological disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death.
4. Multiple sclerosis: An autoimmune disease that affects the central nervous system, causing inflammation and damage to nerve fibers.
5. Diabetic neuropathy: A complication of diabetes that can cause damage to nerves in the hands and feet, leading to pain, numbness, and weakness.
6. Guillain-Barré syndrome: An autoimmune disorder that can cause inflammation and damage to nerve fibers, leading to muscle weakness and paralysis.
7. Chronic inflammatory demyelinating polyneuropathy (CIDP): An autoimmune disorder that can cause inflammation and damage to nerve fibers, leading to muscle weakness and numbness.
The causes of nerve degeneration are not always known or fully understood, but some possible causes include:
1. Genetics: Some types of nerve degeneration may be inherited from one's parents.
2. Aging: As we age, our nerve cells can become damaged or degenerate, leading to a decline in cognitive and physical function.
3. Injury or trauma: Physical injury or trauma to the nervous system can cause nerve damage and degeneration.
4. Infections: Certain infections, such as viral or bacterial infections, can cause nerve damage and degeneration.
5. Autoimmune disorders: Conditions such as Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy (CIDP) are caused by the immune system attacking and damaging nerve cells.
6. Toxins: Exposure to certain toxins, such as heavy metals or pesticides, can damage and degenerate nerve cells.
7. Poor nutrition: A diet that is deficient in essential nutrients, such as vitamin B12 or other B vitamins, can lead to nerve damage and degeneration.
8. Alcoholism: Long-term alcohol abuse can cause nerve damage and degeneration due to the toxic effects of alcohol on nerve cells.
9. Drug use: Certain drugs, such as chemotherapy drugs and antiviral medications, can damage and degenerate nerve cells.
10. Aging: As we age, our nerve cells can deteriorate and become less functional, leading to a range of cognitive and motor symptoms.
It's important to note that in some cases, nerve damage and degeneration may be irreversible, but there are often strategies that can help manage symptoms and improve quality of life. If you suspect you have nerve damage or degeneration, it's important to seek medical attention as soon as possible to receive an accurate diagnosis and appropriate treatment.
1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.
2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.
3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.
4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.
5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.
6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.
7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.
8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.
9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.
10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.
Some common examples of neurodegenerative diseases include:
1. Alzheimer's disease: A progressive loss of cognitive function, memory, and thinking skills that is the most common form of dementia.
2. Parkinson's disease: A disorder that affects movement, balance, and coordination, causing tremors, rigidity, and difficulty with walking.
3. Huntington's disease: An inherited condition that causes progressive loss of cognitive, motor, and psychiatric functions.
4. Amyotrophic lateral sclerosis (ALS): A disease that affects the nerve cells responsible for controlling voluntary muscle movement, leading to muscle weakness, paralysis, and eventually death.
5. Prion diseases: A group of rare and fatal disorders caused by misfolded proteins in the brain, leading to neurodegeneration and death.
6. Creutzfeldt-Jakob disease: A rare, degenerative, and fatal brain disorder caused by an abnormal form of a protein called a prion.
7. Frontotemporal dementia: A group of diseases that affect the front and temporal lobes of the brain, leading to changes in personality, behavior, and language.
Neurodegenerative diseases can be caused by a variety of factors, including genetics, age, lifestyle, and environmental factors. They are typically diagnosed through a combination of medical history, physical examination, laboratory tests, and imaging studies. Treatment options for neurodegenerative diseases vary depending on the specific condition and its underlying causes, but may include medications, therapy, and lifestyle changes.
Preventing or slowing the progression of neurodegenerative diseases is a major focus of current research, with various potential therapeutic strategies being explored, such as:
1. Stem cell therapies: Using stem cells to replace damaged neurons and restore brain function.
2. Gene therapies: Replacing or editing genes that are linked to neurodegenerative diseases.
3. Small molecule therapies: Developing small molecules that can slow or prevent the progression of neurodegenerative diseases.
4. Immunotherapies: Harnessing the immune system to combat neurodegenerative diseases.
5. Lifestyle interventions: Promoting healthy lifestyle choices, such as regular exercise and a balanced diet, to reduce the risk of developing neurodegenerative diseases.
In conclusion, neurodegenerative diseases are a complex and diverse group of disorders that can have a profound impact on individuals and society. While there is currently no cure for these conditions, research is providing new insights into their causes and potential treatments. By continuing to invest in research and developing innovative therapeutic strategies, we can work towards improving the lives of those affected by neurodegenerative diseases and ultimately finding a cure.
Fasciculations can be caused by a variety of factors, including:
1. Neuronal hyperexcitability: This is the most common cause of fasciculations. It occurs when there is an imbalance in the activity of neurons in the motor unit, leading to increased excitability and muscle twitching.
2. Muscle damage: Fasciculations can occur as a result of muscle injury or strain.
3. Nutritional deficiencies: Deficiencies in vitamins such as B12 and vitamin D can cause fasciculations.
4. Medication side effects: Certain medications, such as anesthetics and anticonvulsants, can cause muscle twitching as a side effect.
5. Medical conditions: Fasciculations can be a symptom of various medical conditions, including ALS, multiple sclerosis, and peripheral neuropathy.
Fasciculations can affect any part of the body, but are most commonly seen in the eyelids, face, arms, and legs. They can be benign and temporary, or they can be a symptom of an underlying medical condition that requires treatment. If you are experiencing muscle twitching or fasciculations, it is important to speak with a healthcare professional to determine the cause and appropriate course of action.
In summary, fasciculation is a term used in neurology to describe small, localized muscle twitches that can occur in any part of the body. It can be caused by a variety of factors, including neuronal hyperexcitability, muscle damage, nutritional deficiencies, medication side effects, and medical conditions such as ALS. If you are experiencing muscle twitching or fasciculations, it is important to speak with a healthcare professional to determine the cause and appropriate course of action.
TDP-43 is a protein that plays a critical role in regulating gene expression and protecting against oxidative stress. In people with TDP-43 proteinopathies, the normal functioning of this protein is disrupted, leading to the accumulation of abnormal TDP-43 aggregates in the brain. These aggregates are thought to be toxic to brain cells and contribute to the progression of the disease.
There are several different types of TDP-43 proteinopathies, including:
1. Frontotemporal dementia (FTD): This is a group of neurodegenerative disorders that affects the front and temporal lobes of the brain, leading to changes in personality, behavior, and cognitive function.
2. Amyotrophic lateral sclerosis (ALS): This is a progressive neurological disorder that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and death.
3. Progressive supranuclear palsy (PSP): This is a rare brain disorder that affects movement, balance, and eye movements, as well as cognitive function.
4. Corticobasal degeneration (CBD): This is a rare brain disorder that affects the cortex and basal ganglia, leading to a range of symptoms including movement problems, cognitive decline, and behavioral changes.
TDP-43 proteinopathies are typically diagnosed through a combination of clinical evaluation, imaging studies (such as MRI or CT scans), and laboratory tests (such as electrophysiology studies or genetic testing). There is currently no cure for these diseases, but researchers are actively working to develop new treatments to slow or stop their progression.
Some common types of sclerosis include:
1. Multiple sclerosis (MS): This is an autoimmune disease that affects the central nervous system (CNS), causing inflammation and damage to the protective covering of nerve fibers, leading to communication problems between the brain and the rest of the body.
2. Systemic sclerosis (SSc): Also known as scleroderma, this is a chronic autoimmune disease that affects the skin and internal organs, causing hardening and tightening of the skin and scar tissue formation in the affected areas.
3. Progressive supranuclear palsy (PSP): This is a rare brain disorder that affects movement, balance, and eye movements, caused by degeneration of certain cells in the brainstem.
4. Primary lateral sclerosis (PLS): This is a rare neurodegenerative disorder that affects the motor neurons in the spinal cord, leading to weakness in the muscles of the legs, feet, and hands.
5. Tuberous sclerosis complex (TSC): This is a rare genetic disorder that causes non-cancerous tumors to grow in organs such as the brain, heart, kidneys, and lungs.
Symptoms of sclerosis vary depending on the type and location of the condition. Common symptoms include muscle weakness or stiffness, difficulty with movement and coordination, numbness or tingling sensations, and changes in sensation or perception. Treatment options for sclerosis depend on the specific type and severity of the condition, and may include medications, physical therapy, and lifestyle modifications.
Bulbar palsy, progressive refers to a condition where there is a gradual loss of muscle function in the face, tongue, and throat due to damage to the brainstem. This condition is also known as progressive bulbar palsy (PBP).
The brainstem is responsible for controlling many of the body's automatic functions, including breathing, heart rate, and swallowing. When the brainstem is damaged, it can lead to a range of symptoms, including weakness or paralysis of the muscles in the face, tongue, and throat.
The symptoms of progressive bulbar palsy may include:
* Difficulty speaking or slurred speech
* Weakness or paralysis of the facial muscles
* Difficulty swallowing (dysphagia)
* Weight loss due to difficulty eating and drinking
* Fatigue and weakness
* Decreased reflexes
Progressive bulbar palsy can be caused by a variety of conditions, including:
* Brainstem stroke or bleeding
* Brain tumors
* Multiple sclerosis
* Amyotrophic lateral sclerosis (ALS)
* Other neurodegenerative disorders
There is no cure for progressive bulbar palsy, but treatment may include:
* Speech therapy to improve communication skills
* Swallowing therapy to reduce the risk of choking or pneumonia
* Physical therapy to maintain muscle strength and function
* Medications to manage symptoms such as pain, weakness, or fatigue
The prognosis for progressive bulbar palsy is generally poor, with many individuals experiencing significant decline in their quality of life and eventually succumbing to the disease. However, the rate of progression can vary greatly depending on the underlying cause of the condition.
Disease progression can be classified into several types based on the pattern of worsening:
1. Chronic progressive disease: In this type, the disease worsens steadily over time, with a gradual increase in symptoms and decline in function. Examples include rheumatoid arthritis, osteoarthritis, and Parkinson's disease.
2. Acute progressive disease: This type of disease worsens rapidly over a short period, often followed by periods of stability. Examples include sepsis, acute myocardial infarction (heart attack), and stroke.
3. Cyclical disease: In this type, the disease follows a cycle of worsening and improvement, with periodic exacerbations and remissions. Examples include multiple sclerosis, lupus, and rheumatoid arthritis.
4. Recurrent disease: This type is characterized by episodes of worsening followed by periods of recovery. Examples include migraine headaches, asthma, and appendicitis.
5. Catastrophic disease: In this type, the disease progresses rapidly and unpredictably, with a poor prognosis. Examples include cancer, AIDS, and organ failure.
Disease progression can be influenced by various factors, including:
1. Genetics: Some diseases are inherited and may have a predetermined course of progression.
2. Lifestyle: Factors such as smoking, lack of exercise, and poor diet can contribute to disease progression.
3. Environmental factors: Exposure to toxins, allergens, and other environmental stressors can influence disease progression.
4. Medical treatment: The effectiveness of medical treatment can impact disease progression, either by slowing or halting the disease process or by causing unintended side effects.
5. Co-morbidities: The presence of multiple diseases or conditions can interact and affect each other's progression.
Understanding the type and factors influencing disease progression is essential for developing effective treatment plans and improving patient outcomes.
The symptoms of tuberous sclerosis can vary widely depending on the location and size of the affected organs. Some common symptoms include:
* Seizures
* Developmental delays
* Intellectual disability
* Vision problems
* Skin abnormalities, such as patches of thickened skin or pits in the skin
* Cardiac problems, such as arrhythmias or heart failure
* Kidney problems, such as kidney cysts or kidney failure
* Respiratory problems, such as shortness of breath or difficulty breathing
Tuberous sclerosis is caused by mutations in the TSC1 or TSC2 genes. These genes play a critical role in regulating cell growth and division, and mutations in these genes can lead to uncontrolled cell growth and the development of hamartomas.
There is no cure for tuberous sclerosis, but various treatments can help manage the symptoms and prevent complications. These may include:
* Medications to control seizures, such as anticonvulsants
* Surgery to remove hamartomas in the brain or other organs
* Radiation therapy to shrink tumors
* Chemotherapy to kill cancer cells
* Diet and nutrition counseling to manage feeding tubes and malnutrition
The prognosis for individuals with tuberous sclerosis varies depending on the severity of the disease and the presence of complications. Some individuals may have a mild form of the disease with few symptoms, while others may experience severe symptoms and have a shorter life expectancy. With appropriate medical care and management, however, many individuals with tuberous sclerosis can lead active and fulfilling lives.
Pseudobulbar palsy is typically caused by damage to the brain or spinal cord, such as a stroke, traumatic injury, or neurodegenerative disease. The condition can also be a complication of certain medical procedures or surgeries.
Symptoms of pseudobulbar palsy can vary in severity and may include:
* Weakness or paralysis of the muscles used for speech, swallowing, and breathing
* Slurred or distorted speech
* Difficulty articulating words or forming coherent sentences
* Difficulty with swallowing, leading to coughing or choking during eating or drinking
* Fatigue or weakness in the face, arms, or legs
* Loss of reflexes in the face, arms, or legs
Pseudobulbar palsy can be diagnosed through a combination of physical examination, medical history, and diagnostic tests such as electromyography (EMG) or imaging studies. Treatment options for pseudobulbar palsy depend on the underlying cause of the condition and may include physical therapy, speech therapy, medications to manage symptoms, or surgery.
The prognosis for pseudobulbar palsy varies depending on the underlying cause of the condition and the severity of the symptoms. In some cases, pseudobulbar palsy may be a temporary condition that resolves with treatment, while in other cases it may be a chronic condition that requires ongoing management.
Symptoms of sialorrhea may include:
* Excessive drooling or spitting up saliva
* Difficulty swallowing
* Frequent dry mouth
* Bad breath
* Gum disease or tooth decay
* Difficulty speaking or eating
There are several medical conditions that can cause sialorrhea, including:
* Diabetes
* Hypothyroidism (underactive thyroid)
* Hyperthyroidism (overactive thyroid)
* Parkinson's disease
* Alzheimer's disease
* Stroke
* Brain injury
* Multiple sclerosis
* Cerebral palsy
Treatment for sialorrhea depends on the underlying cause and may include:
* Medications to reduce saliva production or dry mouth
* Changes to diet and hydration habits
* Speech therapy to improve swallowing and communication skills
* Treatment of underlying medical conditions
* Sialostomy, a surgical procedure to drain excess saliva from the mouth.
It is important to seek medical attention if you experience persistent or severe sialorrhea, as it can lead to complications such as dehydration, malnutrition, and infection. A healthcare professional can diagnose the underlying cause and recommend appropriate treatment.
1. Muscular dystrophy: A group of genetic disorders that cause progressive muscle weakness and degeneration.
2. Amyotrophic lateral sclerosis (ALS): A progressive neurological disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and eventually death.
3. Spinal muscular atrophy: A genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement.
4. Peripheral neuropathy: A condition that causes damage to the peripheral nerves, leading to weakness, numbness, and pain in the hands and feet.
5. Myasthenia gravis: An autoimmune disorder that affects the nerve-muscle connection, causing muscle weakness and fatigue.
6. Neuropathy: A term used to describe damage to the nerves, which can cause a range of symptoms including numbness, tingling, and pain in the hands and feet.
7. Charcot-Marie-Tooth disease: A group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and wasting.
8. Guillain-Barré syndrome: An autoimmune disorder that causes inflammation and damage to the nerves, leading to muscle weakness and paralysis.
9. Botulism: A bacterial infection that can cause muscle weakness and paralysis by blocking the release of the neurotransmitter acetylcholine.
10. Myotonia congenita: A genetic disorder that affects the nerve-muscle connection, causing muscle stiffness and rigidity.
These are just a few examples of neuromuscular diseases, and there are many more conditions that can cause muscle weakness and fatigue. It's important to see a doctor if you experience persistent or severe symptoms to receive an accurate diagnosis and appropriate treatment.
There are several causes of muscle weakness, including:
1. Neuromuscular diseases: These are disorders that affect the nerves that control voluntary muscle movement, such as amyotrophic lateral sclerosis (ALS) and polio.
2. Musculoskeletal disorders: These are conditions that affect the muscles, bones, and joints, such as arthritis and fibromyalgia.
3. Metabolic disorders: These are conditions that affect the body's ability to produce energy, such as hypoglycemia and hypothyroidism.
4. Injuries: Muscle weakness can occur due to injuries such as muscle strains and tears.
5. Infections: Certain infections such as botulism and Lyme disease can cause muscle weakness.
6. Nutritional deficiencies: Deficiencies in vitamins and minerals such as vitamin D and B12 can cause muscle weakness.
7. Medications: Certain medications such as steroids and anticonvulsants can cause muscle weakness as a side effect.
The symptoms of muscle weakness can vary depending on the underlying cause, but may include:
1. Fatigue: Feeling tired or weak after performing simple tasks.
2. Lack of strength: Difficulty lifting objects or performing physical activities.
3. Muscle cramps: Spasms or twitches in the muscles.
4. Muscle wasting: Loss of muscle mass and tone.
5. Difficulty speaking or swallowing: In cases where the muscle weakness affects the face, tongue, or throat.
6. Difficulty walking or standing: In cases where the muscle weakness affects the legs or lower back.
7. Droopy facial features: In cases where the muscle weakness affects the facial muscles.
If you are experiencing muscle weakness, it is important to seek medical attention to determine the underlying cause and receive proper treatment. A healthcare professional will perform a physical examination and may order diagnostic tests such as blood tests or imaging studies to help diagnose the cause of the muscle weakness. Treatment will depend on the underlying cause, but may include medication, physical therapy, or lifestyle changes. In some cases, muscle weakness may be a sign of a serious underlying condition that requires prompt medical attention.
There are two main types of systemic scleroderma: diffuse cutaneous systemic sclerosis (DCSS) and limited cutaneous systemic sclerosis (LCSS). DCSS is characterized by skin thickening and scar formation over the trunk, arms, and legs, while LCSS is characterized by skin tightening and patches of scaly skin on the hands and face.
The symptoms of systemic scleroderma can include:
* Skin hardening and tightening
* Fatigue
* Joint pain and stiffness
* Muscle weakness
* Swallowing difficulties
* Heartburn and acid reflux
* Shortness of breath
* Raynaud's phenomenon (pale or blue-colored fingers and toes in response to cold temperatures or stress)
The exact cause of systemic scleroderma is not known, but it is believed to involve a combination of genetic and environmental factors. Treatment options for systemic scleroderma include medications to manage symptoms such as pain, stiffness, and swallowing difficulties, as well as physical therapy and lifestyle modifications to improve quality of life.
In summary, systemic scleroderma is a chronic autoimmune disease that affects multiple systems in the body, causing skin hardening and thickening, fatigue, joint pain, and other symptoms. While there is no cure for systemic scleroderma, treatment options are available to manage symptoms and improve quality of life.
There are several types of dementia, each with its own set of symptoms and characteristics. Some common types of dementia include:
* Alzheimer's disease: This is the most common form of dementia, accounting for 50-70% of all cases. It is a progressive disease that causes the death of brain cells, leading to memory loss and cognitive decline.
* Vascular dementia: This type of dementia is caused by problems with blood flow to the brain, often as a result of a stroke or small vessel disease. It can cause difficulty with communication, language, and visual-spatial skills.
* Lewy body dementia: This type of dementia is characterized by the presence of abnormal protein deposits called Lewy bodies in the brain. It can cause a range of symptoms, including memory loss, confusion, hallucinations, and difficulty with movement.
* Frontotemporal dementia: This is a group of diseases that affect the front and temporal lobes of the brain, leading to changes in personality, behavior, and language.
The symptoms of dementia can vary depending on the underlying cause, but common symptoms include:
* Memory loss: Difficulty remembering recent events or learning new information.
* Communication and language difficulties: Struggling to find the right words or understand what others are saying.
* Disorientation: Getting lost in familiar places or having difficulty understanding the time and date.
* Difficulty with problem-solving: Trouble with planning, organizing, and decision-making.
* Mood changes: Depression, anxiety, agitation, or aggression.
* Personality changes: Becoming passive, suspicious, or withdrawn.
* Difficulty with movement: Trouble with coordination, balance, or using utensils.
* Hallucinations: Seeing or hearing things that are not there.
* Sleep disturbances: Having trouble falling asleep or staying asleep.
The symptoms of dementia can be subtle at first and may progress slowly over time. In the early stages, they may be barely noticeable, but as the disease progresses, they can become more pronounced and interfere with daily life. It is important to seek medical advice if you or a loved one is experiencing any of these symptoms, as early diagnosis and treatment can help improve outcomes.
Parkinson's disease is the second most common neurodegenerative disorder after Alzheimer's disease, affecting approximately 1% of the population over the age of 60. It is more common in men than women and has a higher incidence in Caucasians than in other ethnic groups.
The primary symptoms of Parkinson's disease are:
* Tremors or trembling, typically starting on one side of the body
* Rigidity or stiffness, causing difficulty with movement
* Bradykinesia or slowness of movement, including a decrease in spontaneous movements such as blinking or smiling
* Postural instability, leading to falls or difficulty with balance
As the disease progresses, symptoms can include:
* Difficulty with walking, gait changes, and freezing episodes
* Dry mouth, constipation, and other non-motor symptoms
* Cognitive changes, such as dementia, memory loss, and confusion
* Sleep disturbances, including REM sleep behavior disorder
* Depression, anxiety, and other psychiatric symptoms
The exact cause of Parkinson's disease is not known, but it is believed to involve a combination of genetic and environmental factors. The disease is associated with the degradation of dopamine-producing neurons in the substantia nigra, leading to a deficiency of dopamine in the brain. This deficiency disrupts the normal functioning of the basal ganglia, a group of structures involved in movement control, leading to the characteristic symptoms of the disease.
There is no cure for Parkinson's disease, but various treatments are available to manage its symptoms. These include:
* Medications such as dopaminergic agents (e.g., levodopa) and dopamine agonists to replace lost dopamine and improve motor function
* Deep brain stimulation, a surgical procedure that involves implanting an electrode in the brain to deliver electrical impulses to specific areas of the brain
* Physical therapy to improve mobility and balance
* Speech therapy to improve communication and swallowing difficulties
* Occupational therapy to improve daily functioning
It is important for individuals with Parkinson's disease to work closely with their healthcare team to develop a personalized treatment plan that addresses their specific needs and improves their quality of life. With appropriate treatment and support, many people with Parkinson's disease are able to manage their symptoms and maintain a good level of independence for several years after diagnosis.
1. Complete paralysis: When there is no movement or sensation in a particular area of the body.
2. Incomplete paralysis: When there is some movement or sensation in a particular area of the body.
3. Localized paralysis: When paralysis affects only a specific part of the body, such as a limb or a facial muscle.
4. Generalized paralysis: When paralysis affects multiple parts of the body.
5. Flaccid paralysis: When there is a loss of muscle tone and the affected limbs feel floppy.
6. Spastic paralysis: When there is an increase in muscle tone and the affected limbs feel stiff and rigid.
7. Paralysis due to nerve damage: This can be caused by injuries, diseases such as multiple sclerosis, or birth defects such as spina bifida.
8. Paralysis due to muscle damage: This can be caused by injuries, such as muscular dystrophy, or diseases such as muscular sarcopenia.
9. Paralysis due to brain damage: This can be caused by head injuries, stroke, or other conditions that affect the brain such as cerebral palsy.
10. Paralysis due to spinal cord injury: This can be caused by trauma, such as a car accident, or diseases such as polio.
Paralysis can have a significant impact on an individual's quality of life, affecting their ability to perform daily activities, work, and participate in social and recreational activities. Treatment options for paralysis depend on the underlying cause and may include physical therapy, medications, surgery, or assistive technologies such as wheelchairs or prosthetic devices.
Gliosis is made up of glial cells, which are non-neuronal cells that provide support and protection to neurons. When neural tissue is damaged, glial cells proliferate and form a scar-like tissue to fill in the gap and repair the damage. This scar tissue can be made up of astrocytes, oligodendrocytes, or microglia, depending on the type of injury and the location of the damage.
Gliosis can have both beneficial and harmful effects on the brain. On one hand, it can help to prevent further damage by providing a physical barrier against invading substances and protecting the surrounding neural tissue. It can also promote healing by bringing in immune cells and growth factors that aid in the repair process.
On the other hand, gliosis can also have negative effects on brain function. The scar tissue can disrupt normal communication between neurons, leading to impaired cognitive and motor function. In addition, if the scar tissue is too extensive or severe, it can compress or displaces surrounding neural tissue, leading to long-term neurological deficits or even death.
There are several ways to diagnose gliosis, including magnetic resonance imaging (MRI), positron emission tomography (PET), and histopathology. Treatment options for gliosis depend on the underlying cause of the condition and can include medications, surgery, or a combination of both.
In summary, gliosis is a type of scar tissue that forms in the brain and spinal cord as a result of damage to neural tissue. It can have both beneficial and harmful effects on brain function, and diagnosis and treatment options vary depending on the underlying cause of the condition.
There are several types of atrophy that can occur in different parts of the body. For example:
1. Muscular atrophy: This occurs when muscles weaken and shrink due to disuse or injury.
2. Neuronal atrophy: This occurs when nerve cells degenerate, leading to a loss of cognitive function and memory.
3. Cardiac atrophy: This occurs when the heart muscle weakens and becomes less efficient, leading to decreased cardiac output.
4. Atrophic gastritis: This is a type of stomach inflammation that can lead to the wasting away of the stomach lining.
5. Atrophy of the testes: This occurs when the testes shrink due to a lack of use or disorder, leading to decreased fertility.
Atrophy can be diagnosed through various medical tests and imaging studies, such as MRI or CT scans. Treatment for atrophy depends on the underlying cause and may involve physical therapy, medication, or surgery. In some cases, atrophy can be prevented or reversed with proper treatment and care.
In summary, atrophy is a degenerative process that can occur in various parts of the body due to injury, disease, or disuse. It can lead to a loss of function and decreased quality of life, but with proper diagnosis and treatment, it may be possible to prevent or reverse some forms of atrophy.
Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.
The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.
Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.
Examples of diseases with a known genetic predisposition:
1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.
Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."
There are several types of respiratory insufficiency, including:
1. Hypoxemic respiratory failure: This occurs when the lungs do not take in enough oxygen, resulting in low levels of oxygen in the bloodstream.
2. Hypercapnic respiratory failure: This occurs when the lungs are unable to remove enough carbon dioxide from the bloodstream, leading to high levels of carbon dioxide in the bloodstream.
3. Mixed respiratory failure: This occurs when both hypoxemic and hypercapnic respiratory failure occur simultaneously.
Treatment for respiratory insufficiency depends on the underlying cause and may include medications, oxygen therapy, mechanical ventilation, and other supportive care measures. In severe cases, lung transplantation may be necessary. It is important to seek medical attention if symptoms of respiratory insufficiency are present, as early intervention can improve outcomes and prevent complications.
There are different types of SMA, ranging from mild to severe, with varying degrees of muscle wasting and weakness. The condition typically becomes apparent during infancy or childhood and can progress rapidly or slowly over time. Symptoms may include muscle weakness, spinal curvature (scoliosis), respiratory problems, and difficulty swallowing.
SMA is caused by a defect in the Survival Motor Neuron 1 (SMN1) gene, which is responsible for producing a protein that protects motor neurons from degeneration. The disorder is usually inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene - one from each parent - to develop the condition.
There is currently no cure for SMA, but various treatments are available to manage its symptoms and slow its progression. These may include physical therapy, occupational therapy, bracing, and medications to improve muscle strength and function. In some cases, stem cell therapy or gene therapy may be considered as potential treatment options.
Prognosis for SMA varies depending on the type and severity of the condition, but it is generally poor for those with the most severe forms of the disorder. However, with appropriate management and support, many individuals with SMA can lead fulfilling lives and achieve their goals despite physical limitations.
Examples of Nervous System Diseases include:
1. Alzheimer's disease: A progressive neurological disorder that affects memory and cognitive function.
2. Parkinson's disease: A degenerative disorder that affects movement, balance and coordination.
3. Multiple sclerosis: An autoimmune disease that affects the protective covering of nerve fibers.
4. Stroke: A condition where blood flow to the brain is interrupted, leading to brain cell death.
5. Brain tumors: Abnormal growth of tissue in the brain.
6. Neuropathy: Damage to peripheral nerves that can cause pain, numbness and weakness in hands and feet.
7. Epilepsy: A disorder characterized by recurrent seizures.
8. Motor neuron disease: Diseases that affect the nerve cells responsible for controlling voluntary muscle movement.
9. Chronic pain syndrome: Persistent pain that lasts more than 3 months.
10. Neurodevelopmental disorders: Conditions such as autism, ADHD and learning disabilities that affect the development of the brain and nervous system.
These diseases can be caused by a variety of factors such as genetics, infections, injuries, toxins and ageing. Treatment options for Nervous System Diseases range from medications, surgery, rehabilitation therapy to lifestyle changes.
In contrast to relapsing-remitting MS, which is the most common form of the disease and is marked by acute relapses followed by periods of recovery, CPMS is characterized by a gradual and persistent worsening of symptoms. This can include difficulties with walking, balance, and coordination, as well as cognitive impairment, fatigue, and other neurological problems.
The cause of CPMS is not fully understood, but it is believed to involve a combination of genetic and environmental factors that trigger an abnormal immune response against the protective covering of nerve fibers in the CNS. This leads to inflammation, demyelination (loss of the fatty insulation around nerve fibers), and axonal damage, which can result in a range of neurological symptoms.
There is currently no cure for CPMS, but various treatments are available that can help manage symptoms and slow disease progression. These may include medications to reduce inflammation and modulate the immune system, as well as physical therapy, occupational therapy, and other forms of supportive care.
The prognosis for CPMS is generally poorer than for relapsing-remitting MS, with a more rapid decline in neurological function over time. However, the rate of progression can vary widely between individuals, and some people with CPMS may experience a relatively slow decline, while others may experience a more rapid decline.
Overall, chronic progressive multiple sclerosis is a debilitating and challenging condition that requires careful management and supportive care to help improve quality of life and slow disease progression.
There are several types of muscular atrophy, including:
1. Disuse atrophy: This type of atrophy occurs when a muscle is not used for a long period, leading to its degeneration.
2. Neurogenic atrophy: This type of atrophy occurs due to damage to the nerves that control muscles.
3. Dystrophic atrophy: This type of atrophy occurs due to inherited genetic disorders that affect muscle fibers.
4. Atrophy due to aging: As people age, their muscles can degenerate and lose mass and strength.
5. Atrophy due to disease: Certain diseases such as cancer, HIV/AIDS, and muscular dystrophy can cause muscular atrophy.
6. Atrophy due to infection: Infections such as polio and tetanus can cause muscular atrophy.
7. Atrophy due to trauma: Traumatic injuries can cause muscular atrophy, especially if the injury is severe and leads to prolonged immobilization.
Muscular atrophy can lead to a range of symptoms depending on the type and severity of the condition. Some common symptoms include muscle weakness, loss of motor function, muscle wasting, and difficulty performing everyday activities. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, medication, and lifestyle changes such as exercise and dietary modifications. In severe cases, surgery may be necessary to restore muscle function.
Amyotrophic lateral sclerosis
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Amyotrophic Lateral Sclerosis (ALS) Patient and Caregiver Information | CDC
Amyotrophic Lateral Sclerosis (ALS) | National Institute of Neurological Disorders and Stroke
Amyotrophic Lateral Sclerosis | ALS | Lou Gehrig's disease | MedlinePlus
Amyotrophic lateral sclerosis - About the Disease - Genetic and Rare Diseases Information Center
amyotrophic-lateral-sclerosis
CDC - Amyotrophic Lateral Sclerosis: Login
Amyotrophic lateral sclerosis: MedlinePlus Genetics
Amyotrophic Lateral Sclerosis | ALS | Lou Gehrig's disease | MedlinePlus
A human cellular model of amyotrophic lateral sclerosis | Nature Medicine
NIH Guide: AMYOTROPHIC LATERAL SCLEROSIS
Amyotrophic lateral sclerosis: MedlinePlus Genetics
Volunteer Story: John (amyotrophic lateral sclerosis (ALS)) | National Institutes of Health (NIH)
FDA approves treatment of amyotrophic lateral sclerosis associated with a mutation in the SOD1 gene | FDA
Amyotrophic Lateral Sclerosis in Physical Medicine and Rehabilitation: Overview, Physical Therapy, Occupational Therapy
Amyotrophic lateral sclerosis (ALS)
The administration of guanidine in amyotrophic lateral sclerosis | Neurology
Riluzole for amyotrophic lateral sclerosis : reports on individual drugs
Pesticide exposure and amyotrophic lateral sclerosis - PubMed
A neurodegeneration-specific gene-expression signature of acutely isolated microglia from an amyotrophic lateral sclerosis...
Disease-modifying treatment of amyotrophic lateral sclerosis - PubMed
A Study to Assess the Safety, Tolerability, and Effect on Disease Progression of BIIB105 in Participants With Amyotrophic...
Deciphering Amyotrophic Lateral Sclerosis: What Phenotype, Neuropathology and Genetics Are Telling Us about Pathogenesis
Compositions and methods for inhibiting NF-κB and SOD-1 to treat amyotrophic lateral sclerosis (U.S. Patent Number 9,725,719) -...
Florida state-based Amyotrophic Lateral Sclerosis (ALS) surveillance project summary
Amyotrophic Lateral Sclerosis (ALS) - Resources in Connexions Social Justice Library
Amyotrophic Lateral Sclerosis (ALS) | National Institute of Neurological Disorders and Stroke
Relation of automatically extracted formant trajectories with intelligibility loss and speaking rate decline in amyotrophic...
NIH VideoCast - CC Grand Rounds: Amyotrophic Lateral Sclerosis (ALS) in the Genomics Age: Facts, Uncertainties and the Way...
Survival in amyotrophic lateral s1
- Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. (ox.ac.uk)
Neurodegenerative disease2
- Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons. (whiterose.ac.uk)
- Project Summary Amyotrophic lateral sclerosis is an adult onset neurodegenerative disease characterized by loss of motor neurons resulting in stiffness, weakness, muscle atrophy and death from failure of respiratory muscle 3-5 years after diagnosis. (neurodegenerationresearch.eu)
Spinal muscula1
- Subtypes of the disease are defined by location of damage, as in progressive bulbar palsy, or preferential involvement of upper or lower motor neuron, as in primary lateral sclerosis or spinal muscular atrophy. (nih.gov)
Progression2
- Effective monitoring of bulbar disease progression in persons with amyotrophic lateral sclerosis (ALS) requires rapid, objective, automatic assessment of speech loss. (mit.edu)
- Autosomal recessive familial amyotrophic lateral sclerosis (RFALS) is a rare form of ALS that usually presents at an early age with slow progression of symptoms. (duke.edu)
Degeneration1
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14(Suppl 1): 5-18. (harvard.edu)
Genetic3
- Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms underlying the disease. (nih.gov)
- The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. (uni-koeln.de)
- Our objective was to identify whether rare genetic variation in amyotrophic lateral sclerosis (ALS) candidate survival genes modifies ALS survival. (ox.ac.uk)
Neurology1
- Objective - to identify risk factors in patients diagnosed with Amyotrophic Lateral Sclerosis in Georgia directed to The First University Clinic of TSMU and P. Sarajishvili Institute of Neurology . (bvsalud.org)
Adult-onset1
- Amyotrophic lateral sclerosis ( ALS ) is the most common type of adult-onset motor neuron disease (MND). (medscape.com)
Superoxide dismutase2
- FDA approved Qalsody (tofersen) to treat patients with amyotrophic lateral sclerosis (ALS) associated with a mutation in the superoxide dismutase 1 (SOD1) gene (SOD1-ALS). (fda.gov)
- Project Narrative Novel therapies are being developed for Amyotrophic Lateral Sclerosis (ALS) caused by changes in the gene superoxide dismutase 1 (SOD1). (neurodegenerationresearch.eu)
Progressive4
- Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. (nih.gov)
- Amyotrophic lateral sclerosis (a-my-o-TROE-fik LAT-ur-ul skluh-ROE-sis), or ALS, is a progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control. (augustahealth.com)
- Amyotrophic lateral sclerosis (ALS) is a rare neurological disease resulting in progressive loss of voluntary muscle control. (unb.ca)
- Amyotrophic lateral sclerosis (ALS) is characterized phenotypically by progressive weakness and neuropathologically by loss of motor neurons. (harvard.edu)
Primary1
- Primary lateral sclerosis has predominant UMN involvement. (harvard.edu)
Surveillance1
- Title : Florida state-based Amyotrophic Lateral Sclerosis (ALS) surveillance project summary Corporate Authors(s) : McKing Consulting Corporation. (cdc.gov)
Disabling diseases1
- This program announcement, Amyotrophic Lateral Sclerosis, is related to the priority area of chronic disabling diseases. (nih.gov)
Patients3
- Empirical treatment of patients with amyotrophic lateral sclerosis suggested that some modification of the classical downhill course occurred in nonfamilial cases during administration of guanidine hydrochloride in dosages of at least 10 mg per kilogram per day for three months or more. (neurology.org)
- A proportion of patients with frontotemporal dementia (FTD) also develop amyotrophic lateral sclerosis (ALS). (edu.au)
- Totally 53 patients , aged 24 to 82 years, were investigated with Amyotrophic Lateral Sclerosis (ALS), defined by " Gold Coast " criteria. (bvsalud.org)
Spectrum2
- AMYOTROPHIC LATERAL SCLEROSIS NIH GUIDE, Volume 22, Number 7, February 19, 1993 PA NUMBER: PA-93-54 P.T. 34 Keywords: Neuromuscular Disorders Biology, Cellular Epidemiology Etiology Cell Lines Disease Model National Institute of Neurological Disorders and Stroke PURPOSE The National Institute of Neurological Disorders and Stroke (NINDS) invites research grant applications seeking support of a wide spectrum of research directed at generating improved knowledge concerning amyotrophic lateral sclerosis (ALS). (nih.gov)
- Purpose: The current study investigated whether articulatory kinematic patterns can be extrapolated across the spectrum of dysarthria severity in individuals with amyotrophic lateral sclerosis (ALS). (elsevier.com)
Treatment1
- The invention relates to the pharmaceutical compositions, kits, methods, and uses for the treatment of amyotrophic lateral sclerosis. (nih.gov)
Mechanisms1
- Stem cell-derived human motor neurons were used to investigate the cellular mechanisms underlying C9ORF72 -related amyotrophic lateral sclerosis. (nature.com)
Disease4
- Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease, is a rare neurological disease that affects motor neurons-those nerve cells in the brain and spinal cord that control voluntary muscle movement. (nih.gov)
- Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. (medlineplus.gov)
- Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a motor neuron disease which leads to problems with muscle control and movement. (nih.gov)
- Amyotrophic lateral sclerosis (ALS) was once commonly known as Lou Gehrig's disease, after the famous ballplayer in the 1940s who retired because of the disease. (nih.gov)
Research1
- Dr. Nath and his research team are conducting an NIH study to better understand amyotrophic lateral sclerosis or ALS. (nih.gov)
Study1
- Any condition or situation which, in the PI's opinion, could confound the biomarker data or may interfere significantly with the individual's participation and compliance with the study protocol, including but not limited to neurological, psychological and/or medical conditions (e.g., multiple sclerosis, neuropathy, myelopathy). (clinicaltrials.gov)
Form1
- Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. (duke.edu)
Trial2
- Respiratory Strength Training in Amyotrophic Lateral Sclerosis: A Double-Blind, Randomized, Multicenter, Sham-Controlled Trial. (nih.gov)
- Trial of Sodium Phenylbutyrate-Taurursodiol for Amyotrophic Lateral Sclerosis. (alzforum.org)
Gehrig's3
- Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's Disease, is a rare neurological disease that affects motor neurons-those nerve cells in the brain and spinal cord that control voluntary muscle movement. (nih.gov)
- Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a motor neuron disease which leads to problems with muscle control and movement. (nih.gov)
- Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease or Charcot disease, is a fatal neurodegenerative disease that affects motor neurons (MNs) and leads to death within 2-5 years of diagnosis, without any effective therapy available. (nih.gov)
Neurodegenerative2
- The protocol for non-autoimmune neurodegenerative diseases such as amyotrophic lateral sclerosis, remains to be established by future studies. (medscape.com)
- Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease involving both the brain and spinal cord. (nih.gov)
Exposures1
- In response to concerns about occupational and environmental exposures, and a perceived cluster of amyotrophic lateral sclerosis (ALS) in the community, the mortality experience among 31,811 civilian employees who worked for at least 1 year between 1981 and 2000 at Kelly Air Force Base, Texas was ascertained. (medscape.com)
Symptoms2
- When Do Symptoms of Amyotrophic lateral sclerosis Begin? (nih.gov)
- Kanouchi T, Ohkubo T, Yokota T. Can regional spreading of amyotrophic lateral sclerosis motor symptoms be explained by prion-like propagation? (medscape.com)
Diagnosis2
- El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. (medscape.com)
- Clinical diagnosis and management of amyotrophic lateral sclerosis. (medscape.com)
Chronic1
- This program announcement, Amyotrophic Lateral Sclerosis, is related to the priority area of chronic disabling diseases. (nih.gov)