Duchene’s muscular dystrophy
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Duchene's muscular dystrophy is an X-linked genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by the absence of dystrophin, a protein that provides structural support to muscle fibers. Boys are most commonly affected, with symptoms beginning in early childhood and progressing to an inability to walk in the early teen years, along with intellectual disabilities and learning difficulties. While there is no cure, treatment focuses on physical therapy, bracing, and corticosteroids to help maintain muscle strength and delay functional decline.
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Duchenne's Muscular Dystrophy
Duchenne's Muscular Dystrophy
Contents:
1. Introduction
2. Causes
3. Dystrophin
4. Inheritance
5. Symptoms
6. Treatment
7. Complications and Treatment
8. Conclusion
9. References
Muscular dystrophies
This document discusses Duchenne muscular dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by mutations in the dystrophin gene leading to absence of the dystrophin protein. The document outlines the clinical presentation and stages of DMD from early childhood to late stages requiring wheelchair use. It also discusses diagnostic testing, management including cardiac and nutritional support, genetic counseling and potential future treatments like exon skipping drugs.
DUCHENNE MUSCULAR DYSTROPHY
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness. It is caused by an absence of the protein dystrophin due to mutations in the dystrophin gene on the X chromosome. The disease mainly affects boys and results in the breakdown of skeletal muscles. While there is no cure, treatment aims to manage symptoms and improve quality of life through physical therapy, bracing, medication, and respiratory/nutritional support. Research continues on new therapies such as gene therapy to replace the missing dystrophin protein.
Muscular dystrophy
Muscular dystrophy is a genetic disorder characterized by progressive skeletal muscle weakness. The most common type is Duchenne muscular dystrophy, which is caused by a lack of the muscle protein dystrophin. Clinical features include muscle wasting, impaired balance and mobility, scoliosis, respiratory difficulties, and in late stages, weakness of upper limb muscles. Physiotherapy management focuses on maintaining strength and range of motion, preventing deformities, improving respiratory function, and assisting with activities of daily living through the different stages of the disease.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene leading to progressive muscle weakness. It mainly affects boys and symptoms start between ages 2-3. Affected children become wheelchair bound by age 12 and have life-threatening heart, respiratory, and orthopedic complications if not properly managed. Management involves monitoring for cardiomyopathy, respiratory support, orthopedic care, corticosteroids which can prolong ambulation, and future therapies like gene therapy aim to treat the underlying genetic cause.
Muscle Dystrophy
MD is painless & affects skeletal or voluntary
muscles WITHOUT involvement of
the nervous system.
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a genetic disorder caused by the absence of the dystrophin protein. It is characterized by progressive muscle degeneration and weakness. Symptoms begin in early childhood and worsen over time, often resulting in the need for a wheelchair in the early teens. While there is no cure, treatment focuses on managing symptoms and complications to improve quality of life. Research is ongoing to develop new treatments such as stem cell therapy and gene therapy.
Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by the absence of the protein dystrophin due to mutations in the DMD gene. Symptoms usually begin between ages 2-6 and include difficulty walking, climbing stairs, and rising from the floor. Affected individuals lose the ability to walk by age 12 and often die in their 20s from respiratory or cardiac failure. Diagnosis involves testing for elevated creatine kinase levels and detecting dystrophin abnormalities through muscle biopsy or genetic testing. Currently there is no cure, but treatment focuses on symptom management through bracing, steroids, respiratory support, and physical therapy
Recommended
Duchenne's Muscular Dystrophy
Duchenne's Muscular Dystrophy
Contents:
1. Introduction
2. Causes
3. Dystrophin
4. Inheritance
5. Symptoms
6. Treatment
7. Complications and Treatment
8. Conclusion
9. References
Muscular dystrophies
This document discusses Duchenne muscular dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by mutations in the dystrophin gene leading to absence of the dystrophin protein. The document outlines the clinical presentation and stages of DMD from early childhood to late stages requiring wheelchair use. It also discusses diagnostic testing, management including cardiac and nutritional support, genetic counseling and potential future treatments like exon skipping drugs.
DUCHENNE MUSCULAR DYSTROPHY
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness. It is caused by an absence of the protein dystrophin due to mutations in the dystrophin gene on the X chromosome. The disease mainly affects boys and results in the breakdown of skeletal muscles. While there is no cure, treatment aims to manage symptoms and improve quality of life through physical therapy, bracing, medication, and respiratory/nutritional support. Research continues on new therapies such as gene therapy to replace the missing dystrophin protein.
Muscular dystrophy
Muscular dystrophy is a genetic disorder characterized by progressive skeletal muscle weakness. The most common type is Duchenne muscular dystrophy, which is caused by a lack of the muscle protein dystrophin. Clinical features include muscle wasting, impaired balance and mobility, scoliosis, respiratory difficulties, and in late stages, weakness of upper limb muscles. Physiotherapy management focuses on maintaining strength and range of motion, preventing deformities, improving respiratory function, and assisting with activities of daily living through the different stages of the disease.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene leading to progressive muscle weakness. It mainly affects boys and symptoms start between ages 2-3. Affected children become wheelchair bound by age 12 and have life-threatening heart, respiratory, and orthopedic complications if not properly managed. Management involves monitoring for cardiomyopathy, respiratory support, orthopedic care, corticosteroids which can prolong ambulation, and future therapies like gene therapy aim to treat the underlying genetic cause.
Muscle Dystrophy
MD is painless & affects skeletal or voluntary
muscles WITHOUT involvement of
the nervous system.
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a genetic disorder caused by the absence of the dystrophin protein. It is characterized by progressive muscle degeneration and weakness. Symptoms begin in early childhood and worsen over time, often resulting in the need for a wheelchair in the early teens. While there is no cure, treatment focuses on managing symptoms and complications to improve quality of life. Research is ongoing to develop new treatments such as stem cell therapy and gene therapy.
Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by the absence of the protein dystrophin due to mutations in the DMD gene. Symptoms usually begin between ages 2-6 and include difficulty walking, climbing stairs, and rising from the floor. Affected individuals lose the ability to walk by age 12 and often die in their 20s from respiratory or cardiac failure. Diagnosis involves testing for elevated creatine kinase levels and detecting dystrophin abnormalities through muscle biopsy or genetic testing. Currently there is no cure, but treatment focuses on symptom management through bracing, steroids, respiratory support, and physical therapy
SPINAL MUSCULAR ATROPHY
This document discusses spinal muscular atrophy (SMA), including its causes, types, signs and symptoms, diagnosis, and treatment. SMA is caused by a mutation in the SMN1 gene that results in a lack of survival motor neuron protein and the degeneration of alpha motor neurons in the spinal cord. It is classified into five types based on age of onset and severity. There is currently no cure for SMA, but treatment focuses on managing symptoms through rehabilitation, assistive devices, ventilation support, and gene therapy research shows promise for slowing disease progression.
Muscular dystrophy
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. The word dystrophy is derived from the Greek dys, which means "difficult" or "faulty," and troph, or "nourish." These disorders vary in age of onset, severity, and pattern of affected muscles. All forms of MD grow worse as muscles progressively degenerate and weaken. Many patients eventually lose the ability to walk.
Some types of MD also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. Respiratory and cardiac diseases may occur, and some patients may develop a swallowing disorder. MD is not contagious and cannot be brought on by injury or activity.
Muscular Dystrophy.ppt
Muscular dystrophy is a group of inherited muscle diseases that cause progressive muscle weakness. The most common type is Duchenne muscular dystrophy, which affects boys and causes muscle degeneration and weakness starting in early childhood. Signs include difficulty walking and muscle loss. While there is no cure, medications can slow disease progression. The document discusses various types of muscular dystrophy in detail, including their signs, symptoms, causes, inheritance patterns, and how the conditions progress over time.
Muscular dystrophy
Muscular dystrophy is a heterogeneous group of inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The document discusses several types of muscular dystrophy including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, fascioscapulohumeral muscular dystrophy, distal muscular dystrophy, congenital muscular dystrophy, and myotonic muscular dystrophy. For each type, the document outlines causes, epidemiology, clinical manifestations, diagnosis, natural history, and treatment.
Dystonia: Causes, Types, Symptoms, and Treatments
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
Duchenne muscular dystrophy
Duchenne muscular dystrophy is a genetic disorder caused by mutations in the dystrophin gene located on the X chromosome. It is characterized by progressive muscle weakness starting in early childhood. Clinical features include difficulty walking, cardiac complications like dilated cardiomyopathy, respiratory issues like sleep apnea and hypoventilation, intellectual disabilities in 30% of patients, and orthopedic problems like fractures and scoliosis. Diagnosis involves elevated creatine kinase levels, muscle biopsy, and genetic testing. Management focuses on cardiac, respiratory, orthopedic care as well as corticosteroid therapy to prolong ambulation and improve lung function. Emerging treatments include gene therapy using viral vectors and exon skipping to restore dystrophin production.
Myopathies
This document discusses various types of myopathies (disorders affecting muscle). It defines myopathies and distinguishes them from other causes of muscle weakness. It then describes different categories of myopathies including inflammatory myopathies (such as polymyositis and dermatomyositis), muscular dystrophies (such as Duchenne, Becker, limb-girdle, facioscapulohumeral), congenital myopathies, metabolic myopathies, and others. For each type, it discusses inheritance, clinical features, diagnostic criteria, and treatment when available.
Down syndrome ppt for UGs
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by mild to moderate intellectual disability and distinctive facial features. The document discusses the history, genetics, clinical features, health issues, diagnosis and management of Down syndrome. Key points include that the risk increases with maternal age, common physical signs include a flat facial profile and hypotonia, associated conditions affect the heart, GI tract and thyroid, and treatment involves screening and early intervention.
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
Muscular dystrophy
What is Muscular Dystrophy?
Types of Muscular Dystrophy
What is Duchenne muscular dystrophy (DMD), pathophysiology, clinical presentation, Gowers sign, DMD and Becker's muscular dystrophy and functional grades
Tabes dorsalis
Tabes dorsalis is a progressive degeneration of nerve cells and fibers in the spinal cord that carry sensory information to the brain, caused by untreated syphilis. It is characterized by sensory deficits, loss of coordination, and diminished reflexes. The disease progresses through preataxic, ataxic, and paralysis stages. Clinical features include loss of sensation, Argyll Robertson pupils, dementia, hypotonicity, loss of coordination, and trophic ulcers. Treatment involves antibiotics, steroids, pain medications, exercises, and splinting to manage symptoms.
Muscular Dystrophy : Duchenne and Becker's
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness. It is caused by mutations in the gene encoding dystrophin, and mainly affects boys. Clinical features include difficulty walking, calf pseudohypertrophy, loss of ambulation by age 12, wheelchair dependence, scoliosis, and death often by age 18 from respiratory or cardiac failure. Diagnosis involves elevated creatine kinase levels, muscle biopsy showing dystrophin deficiency, and genetic testing. There is no cure, but management focuses on maintaining mobility and function.
Turner syndrome
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Rickets
Rickets is caused by a lack of vitamin D, calcium, or phosphate which leads to softening and weakening of the bones due to defective mineralization of bone matrix. It results from vitamin D deficiency which prevents proper absorption of calcium and phosphate from the diet. Symptoms include bone pain, skeletal deformities, increased fractures, and impaired growth. Treatment involves addressing the underlying cause by increasing vitamin D, calcium, and phosphate intake.
Quadriplegia & Paraplegia
Quadriplegia is paralysis of both arms and legs caused by injury to the cervical spinal cord. Paraplegia is paralysis of the lower half of the body caused by injury to the thoracic, lumbar, or sacral spinal cord. Management of spinal cord injuries involves immobilization, medications like methylprednisolone, and surgery to stabilize the spine. Physical therapy focuses on range of motion, strengthening, pain management, and retraining bladder and bowel function to prevent complications like pressure sores. Functional electrical stimulation has also been used to facilitate walking.
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease, is the most common inherited neuromuscular disorder. It is characterized by slowly progressive distal weakness and muscle atrophy in the legs and later in the hands. There are two major types - one with slow nerve conduction velocities associated with demyelinating neuropathy, and one with relatively normal nerve conduction velocities associated with axonal degeneration. Most families demonstrate autosomal dominant inheritance with a 50% chance of offspring being affected if a parent has the disease.
Muscular dystrophy presentation
Muscular dystrophy is a group of inherited diseases that cause the voluntary muscles to progressively weaken over time. There are nine main types of muscular dystrophy that can affect any age or gender. Symptoms include muscle weakness, spasms, and difficulty with mobility. While there is no cure, treatment aims to relieve symptoms and slow progression through medications, therapy, exercise, and assistive devices. Researchers are working to develop new treatments like gene therapy.
Achondroplasia
Achondroplasia is a genetic disorder characterized by disproportionate short stature and limb abnormalities. It results from a mutation on chromosome 4 that causes a defect in bone growth by disrupting endochondral ossification. Individuals with achondroplasia have short stature, an enlarged head, midface hypoplasia, spinal abnormalities, and shortened limbs disproportionately affecting the arms and thighs. Complications can include neurological problems, respiratory issues, and spinal stenosis. While there is no cure, treatment focuses on supportive care, surgery to address orthopedic issues, and in some cases growth hormone therapy.
Genetic & ;Development Disorders Down's syndrome.
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.
Metabolic bone diseases
Metabolic bone disease (MBD) encompasses disorders of calcium and phosphorus homeostasis that are often silent until fractures occur. The document discusses several MBDs including osteoporosis, osteomalacia, rickets, and hyperparathyroidism. It provides details on osteoporosis including definitions, classifications, etiology, clinical manifestations, diagnosis through bone densitometry and radiography, assessment methods, and prevention through exercise, nutrition, and drugs.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is a genetic disorder caused by the absence of the dystrophin protein, which helps keep muscle cells functioning properly. It is characterized by progressive muscle degeneration and weakness. Symptoms begin in early childhood and worsen over time, usually resulting in death in the mid-20s due to heart failure. While there is no cure, treatment focuses on symptom management through physical therapy, bracing, medications, and assistive devices to preserve mobility and function. Research continues on new therapies such as stem cell transplants to potentially slow or stop disease progression.
-MUSCULAR-DYSTROPHY- as a disease(focus on DEV BIO).pptx
Muscular dystrophy is a genetic disease that causes progressive muscle weakness and degeneration. There are over 30 types of muscular dystrophy that differ in severity, onset, and muscles affected. Common symptoms include progressive muscle weakness, loss of mobility, and damage to heart, lungs and other organs in some cases. The document discusses several specific types of muscular dystrophy like Duchenne MD, Becker MD, limb girdle MD and myotonic MD. It covers their causes, inheritance patterns, symptoms and management options.
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SPINAL MUSCULAR ATROPHY
This document discusses spinal muscular atrophy (SMA), including its causes, types, signs and symptoms, diagnosis, and treatment. SMA is caused by a mutation in the SMN1 gene that results in a lack of survival motor neuron protein and the degeneration of alpha motor neurons in the spinal cord. It is classified into five types based on age of onset and severity. There is currently no cure for SMA, but treatment focuses on managing symptoms through rehabilitation, assistive devices, ventilation support, and gene therapy research shows promise for slowing disease progression.
Muscular dystrophy
Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. The word dystrophy is derived from the Greek dys, which means "difficult" or "faulty," and troph, or "nourish." These disorders vary in age of onset, severity, and pattern of affected muscles. All forms of MD grow worse as muscles progressively degenerate and weaken. Many patients eventually lose the ability to walk.
Some types of MD also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. Respiratory and cardiac diseases may occur, and some patients may develop a swallowing disorder. MD is not contagious and cannot be brought on by injury or activity.
Muscular Dystrophy.ppt
Muscular dystrophy is a group of inherited muscle diseases that cause progressive muscle weakness. The most common type is Duchenne muscular dystrophy, which affects boys and causes muscle degeneration and weakness starting in early childhood. Signs include difficulty walking and muscle loss. While there is no cure, medications can slow disease progression. The document discusses various types of muscular dystrophy in detail, including their signs, symptoms, causes, inheritance patterns, and how the conditions progress over time.
Muscular dystrophy
Muscular dystrophy is a heterogeneous group of inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The document discusses several types of muscular dystrophy including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, fascioscapulohumeral muscular dystrophy, distal muscular dystrophy, congenital muscular dystrophy, and myotonic muscular dystrophy. For each type, the document outlines causes, epidemiology, clinical manifestations, diagnosis, natural history, and treatment.
Dystonia: Causes, Types, Symptoms, and Treatments
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
Duchenne muscular dystrophy
Duchenne muscular dystrophy is a genetic disorder caused by mutations in the dystrophin gene located on the X chromosome. It is characterized by progressive muscle weakness starting in early childhood. Clinical features include difficulty walking, cardiac complications like dilated cardiomyopathy, respiratory issues like sleep apnea and hypoventilation, intellectual disabilities in 30% of patients, and orthopedic problems like fractures and scoliosis. Diagnosis involves elevated creatine kinase levels, muscle biopsy, and genetic testing. Management focuses on cardiac, respiratory, orthopedic care as well as corticosteroid therapy to prolong ambulation and improve lung function. Emerging treatments include gene therapy using viral vectors and exon skipping to restore dystrophin production.
Myopathies
This document discusses various types of myopathies (disorders affecting muscle). It defines myopathies and distinguishes them from other causes of muscle weakness. It then describes different categories of myopathies including inflammatory myopathies (such as polymyositis and dermatomyositis), muscular dystrophies (such as Duchenne, Becker, limb-girdle, facioscapulohumeral), congenital myopathies, metabolic myopathies, and others. For each type, it discusses inheritance, clinical features, diagnostic criteria, and treatment when available.
Down syndrome ppt for UGs
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by mild to moderate intellectual disability and distinctive facial features. The document discusses the history, genetics, clinical features, health issues, diagnosis and management of Down syndrome. Key points include that the risk increases with maternal age, common physical signs include a flat facial profile and hypotonia, associated conditions affect the heart, GI tract and thyroid, and treatment involves screening and early intervention.
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
Muscular dystrophy
What is Muscular Dystrophy?
Types of Muscular Dystrophy
What is Duchenne muscular dystrophy (DMD), pathophysiology, clinical presentation, Gowers sign, DMD and Becker's muscular dystrophy and functional grades
Tabes dorsalis
Tabes dorsalis is a progressive degeneration of nerve cells and fibers in the spinal cord that carry sensory information to the brain, caused by untreated syphilis. It is characterized by sensory deficits, loss of coordination, and diminished reflexes. The disease progresses through preataxic, ataxic, and paralysis stages. Clinical features include loss of sensation, Argyll Robertson pupils, dementia, hypotonicity, loss of coordination, and trophic ulcers. Treatment involves antibiotics, steroids, pain medications, exercises, and splinting to manage symptoms.
Muscular Dystrophy : Duchenne and Becker's
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness. It is caused by mutations in the gene encoding dystrophin, and mainly affects boys. Clinical features include difficulty walking, calf pseudohypertrophy, loss of ambulation by age 12, wheelchair dependence, scoliosis, and death often by age 18 from respiratory or cardiac failure. Diagnosis involves elevated creatine kinase levels, muscle biopsy showing dystrophin deficiency, and genetic testing. There is no cure, but management focuses on maintaining mobility and function.
Turner syndrome
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Rickets
Rickets is caused by a lack of vitamin D, calcium, or phosphate which leads to softening and weakening of the bones due to defective mineralization of bone matrix. It results from vitamin D deficiency which prevents proper absorption of calcium and phosphate from the diet. Symptoms include bone pain, skeletal deformities, increased fractures, and impaired growth. Treatment involves addressing the underlying cause by increasing vitamin D, calcium, and phosphate intake.
Quadriplegia & Paraplegia
Quadriplegia is paralysis of both arms and legs caused by injury to the cervical spinal cord. Paraplegia is paralysis of the lower half of the body caused by injury to the thoracic, lumbar, or sacral spinal cord. Management of spinal cord injuries involves immobilization, medications like methylprednisolone, and surgery to stabilize the spine. Physical therapy focuses on range of motion, strengthening, pain management, and retraining bladder and bowel function to prevent complications like pressure sores. Functional electrical stimulation has also been used to facilitate walking.
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease, is the most common inherited neuromuscular disorder. It is characterized by slowly progressive distal weakness and muscle atrophy in the legs and later in the hands. There are two major types - one with slow nerve conduction velocities associated with demyelinating neuropathy, and one with relatively normal nerve conduction velocities associated with axonal degeneration. Most families demonstrate autosomal dominant inheritance with a 50% chance of offspring being affected if a parent has the disease.
Muscular dystrophy presentation
Muscular dystrophy is a group of inherited diseases that cause the voluntary muscles to progressively weaken over time. There are nine main types of muscular dystrophy that can affect any age or gender. Symptoms include muscle weakness, spasms, and difficulty with mobility. While there is no cure, treatment aims to relieve symptoms and slow progression through medications, therapy, exercise, and assistive devices. Researchers are working to develop new treatments like gene therapy.
Achondroplasia
Achondroplasia is a genetic disorder characterized by disproportionate short stature and limb abnormalities. It results from a mutation on chromosome 4 that causes a defect in bone growth by disrupting endochondral ossification. Individuals with achondroplasia have short stature, an enlarged head, midface hypoplasia, spinal abnormalities, and shortened limbs disproportionately affecting the arms and thighs. Complications can include neurological problems, respiratory issues, and spinal stenosis. While there is no cure, treatment focuses on supportive care, surgery to address orthopedic issues, and in some cases growth hormone therapy.
Genetic & ;Development Disorders Down's syndrome.
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.
Metabolic bone diseases
Metabolic bone disease (MBD) encompasses disorders of calcium and phosphorus homeostasis that are often silent until fractures occur. The document discusses several MBDs including osteoporosis, osteomalacia, rickets, and hyperparathyroidism. It provides details on osteoporosis including definitions, classifications, etiology, clinical manifestations, diagnosis through bone densitometry and radiography, assessment methods, and prevention through exercise, nutrition, and drugs.
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Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is a genetic disorder caused by the absence of the dystrophin protein, which helps keep muscle cells functioning properly. It is characterized by progressive muscle degeneration and weakness. Symptoms begin in early childhood and worsen over time, usually resulting in death in the mid-20s due to heart failure. While there is no cure, treatment focuses on symptom management through physical therapy, bracing, medications, and assistive devices to preserve mobility and function. Research continues on new therapies such as stem cell transplants to potentially slow or stop disease progression.
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Dear Readers
Its ppt of Musculoskeletal disorder as mentioned in Bsc Nursing 2nd year curriculum. i hope it will help all nursing students for knowledge seek.
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Duchenne muscular dystrophy (DMD) is a genetic condition that causes progressive muscle weakness. It is caused by a mutation in the gene that encodes the dystrophin protein, which is important for muscle fiber integrity. Boys are most commonly affected as it is inherited through the X chromosome. Symptoms usually appear between ages 1-3 and include difficulty walking, running and climbing stairs. As the condition progresses, it affects trunk and shoulder muscles and can lead to an enlarged heart. There is no cure, but treatment focuses on managing symptoms and delaying effects through steroid injections and mobility aids.
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Muscular dystrophy is a group of inherited disorders that cause progressive muscle weakness and loss of muscle tissue from childhood onwards. It affects skeletal muscles and can limit abilities like walking or maintaining posture. There are several types depending on the genes involved and symptoms, such as Duchenne muscular dystrophy which is the most common type affecting young boys and causing muscle degeneration and weakness starting in early childhood. It is caused by an absence of the dystrophin protein and leads to an inability to walk by the early teens and often death in the 20s from heart or lung complications.
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This document discusses Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy. DMD is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene. This results in progressive muscle degeneration and weakness. The document outlines the characteristic features and stages of DMD as well as methods of genetic testing, management, and potential exon skipping treatments that are being investigated.
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Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness due to alterations in the dystrophin protein. Dystrophin links the muscle cell's internal cytoskeleton to the extracellular matrix. Without dystrophin, the dystrophin-associated protein complex is destabilized, which leads to muscle fiber damage and membrane leakage over time. Boys with Duchenne muscular dystrophy are usually wheelchair-bound by age 12 and die in their late teens or early twenties due to respiratory or cardiac failure. The prognosis is generally poor, with patients becoming wheelchair-dependent by age 12 and dying in their teens or 20s.
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Muscular dystrophy is a genetic disorder characterized by the progressive degeneration of skeletal muscles. The main types are Duchenne MD, which affects boys and causes loss of walking ability by age 12, Becker MD which is similar but less severe, and facioscapulohumeral MD which begins in teens and causes weakness in the face, arms, shoulders and chest. Treatment focuses on physical, respiratory, and occupational therapy as well as drug therapy to slow muscle degeneration, but there is no cure. The prognosis depends on the type and severity but can range from mild symptoms and slow progression to severe disability or death in infancy.
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This document summarizes several skeletal muscle diseases or myopathies. It describes the clinical features of proximal limb weakness seen in many myopathies. It then discusses different patterns of muscle weakness including intermittent weakness seen in conditions like myasthenia gravis and persistent weakness seen in muscular dystrophies. Several specific muscular dystrophies are then described in detail including Duchenne muscular dystrophy, Becker muscular dystrophy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and congenital muscular dystrophies. For each, the document outlines epidemiology, etiology, symptoms, laboratory/diagnostic findings, treatment, and complications.
myopthies.pptx
This document discusses various types of myopathies, including muscular dystrophies, inflammatory myopathies, and channelopathies. It provides details on inherited conditions like Duchenne muscular dystrophy, myotonic dystrophy, and limb girdle muscular dystrophy. It also covers acquired myopathies such as those caused by drugs, endocrine disorders, inflammation, and malignancy. Clinical features, investigations, and management are outlined for different myopathies.
Muscular Dustropy
Muscular Dystrophy is a genetic disorder that causes muscle weakness and wasting. It refers to a group of genetic disorders that destroy muscles over time. The most common type is Duchenne Muscular Dystrophy, which affects boys starting between ages 2-6 and causes progressive muscle degeneration and weakness. Eventually, people with DMD may need wheelchairs and ventilators and usually do not survive past their late teens or early adulthood due to heart and respiratory failure. While there is no cure for MD, research is ongoing to help manage symptoms and prolong life.
Muscular Dystrophies
It is the group of incurable muscle disorders characterized by progressive weakening and wasting of the skeletal or voluntary muscles.
The pathologic features include degeneration and loss of muscle fibers, variation in muscles fibers size, phagocytosis and regeneration and replacement of muscle tissue by connective tissue.
The common characteristics of MD elevation of muscles enzyme.
Muscular dystrophy
Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
Similar to Duchene’s muscular dystrophy (20)
-MUSCULAR-DYSTROPHY- as a disease(focus on DEV BIO).pptx
-MUSCULAR-DYSTROPHY- as a disease(focus on DEV BIO).pptx
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