Write An Essay On Alzheimer's Disease
Acid Maltase Deficiency: It is an autosomal recessive disorder, in which the defect is in the gene for the acid maltase enzyme, which leads to accumulation of glycogen stored in muscles. Glycogen build up, weakens the muscles of a patient suffering from this disorder. This may affect respiratory muscles resulting in respiratory failure. It is also known as the Pompe Disease. Although, in childhood and adolescence the symptoms show slow progress and are less severe, infantile forms cause death within first year, if not treated on time.
Albinism: Albinism is a congenital disorder in which there is little or completely no production of melanin in hair, skin and iris of the eyes. Hence albinos (people suffering from albinism) have light colored skin, hair and eyes. It is caused due to inheritance of recessive alleles from parents. This disorder can't be cured. However, the symptoms can be alleviated with the help of surgical treatment, vision aids and using device that provide protection from sun.
Alzheimer's Disease: Alzheimer's disease is the most common form of dementia which is …show more content…
characterized by gradual memory loss, irritability, mood swings, confusion and language breakdown. Although, scientists are not unequivocal about the cause of this disease, the most widely accepted reason is the amyloid cascade hypothesis, that suggests excess production of a small protein fragment called ABeta (Aβ). Also known as Senile Dementia of the Alzheimer Type (SDAT) or simply Alzheimer's, this is a degenerative disease and scientists are yet to find its cure. However, balanced diet, mental exercises and stimulation are often suggested for prevention and managing of the disease.
Angelman syndrome: It is a neurological disorder that was first described by a British pediatrician, Dr. Harry Angelman, in 1965. This disorder is marked by intellectual and developmental delays, severe speech impairment and problems in movement and balance, recurrent seizures and small heads. Children with Angelman syndrome typically have a happy demeanor. They are hyperactive with short attention span and show jerky hand movements. These children appear normal at birth. This genetic disorder in human is a classical case of genetic imprinting, in which the disorder is caused due to deletion or activation of the maternally inherited chromosome 15. Its sister syndrome is the Prader-Willi syndrome in which there is a similar loss or inactivation of the paternally inherited chromosome 15.
Bardet-Biedl Syndrome: It is a pleiotropic recessive genetic disorder that is characterized by obesity, polydactyly, deterioration of rod and cone cells, mental retardation and defect in the gonads and kidney disease.
It is difficult to diagnose Bardet-Biedl Syndrome, specially in the young. As no cure is yet known for the disorder, treatment is concentrated on specific organs and systems.
Barth Syndrome: A rare but serious sex linked genetic disorder, the Barth syndrome is caused due to mutations or alterations in the BTHS gene. The gene is located on the long arm of X chromosome. This disorder primarily affects the heart. Besides heart defects, Barth syndrome results in poor skeletal musculature, short stature, mitochondrial abnormalities and deficiency of white blood cells. There is no cure for this disorder. Treatment focuses on managing the symptoms and preventing
infections.
Bipolar Disorder: Also known as manic depressive disorder or bipolar affective disorder, individuals suffering from bipolar disorder suffer from highly elevated moods, referred to as mania or episodes of severe depression. Research shows that both genetic as well as environmental factors are responsible for this disorder. Medicines as well as psychotherapy is found to be useful in dealing with the severe mood swings associated with the disorder.
Jackson-Weiss Syndrome: It is an autosomal dominant genetic disorder in which there are foot abnormalities, and premature fusion of bones in the skull lead to deformations of the facial features (widely spaced eyes, bulging forehead) and the skull. In this syndrome, the great toes are short and wide and turn away from the rest of the toes. Some toes may be fused or have some other abnormalities. The mutation is caused in the FGFR2 gene which is located in chromosome 10. Treatment involves corrective surgery for deformed bones in face and foot.
Klinefelter Syndrome: It is the most common sex linked genetic disorder. In which males have an extra X chromosome. Hence ,this disorder is also known as 47, XXY or XXY syndrome. The most common symptom is infertility. Besides this, males with the XXY syndrome have impaired physical, language and social developments. As these individuals produce less testosterone than other males, such teenagers may be less muscular and have less facial hair than their peers. The presence of the extra X chromosome can't be undone. However, testosterone replacement therapy, a variety of therapeutic options like behavioral, speech and occupational therapy and educational treatments are the options available for those suffering from Klinefelter's syndrome.
Krabbe Disease: Krabbe disease is a rare degenerative disorder of the nervous system. It occurs due to mutation in the GALC gene which results in deficiency of enzyme galactosylceramidase. Deficiency of this enzyme affects the development of the myelin sheath of nerve cells. This disorder is inherited in autosomal recessive pattern and manifests itself in babies of 6 months of age. However, it can occur during adolescence or adulthood as well. Bone marrow transplant has help some who suffer from mild form of this disorder. Treatment is usually symptomatic and supportive.
Langer-Giedion Syndrome: Langer-Giedion syndrome is a genetic disorder in human that is caused due to deletion or mutation of at least two genes on chromosome 8. This is not an inherited disorder. It is caused due to random events during formation of reproductive cells (sperms and eggs) in individuals. This is a rare disorder that causes bone abnormalities and typical facial features. Individuals suffering from Langer-Giedion syndrome have multiple non-cancerous tumors in their bones that cause pain, restrict joint movement and exerts pressure on nerves, blood vessels, spinal cord and the tissues surrounding the tumors. Some intellectual disability may be associated with this disorder. External fixators can be used for facial and limbic reconstructions.
Nail-Patella Syndrome: Nail-patella syndrome (NPS) is inherited via autosomal dominant pattern. It is a disorder that affects the joints, bones, fingernails and kidneys. It is most commonly characterized by lack of nail and knee caps. Bone deformations manifest in elbow and abnormally shaped hip bone. Research shows that individuals suffering from the NPS are susceptible to developing glaucoma and scoliosis. Other names for NPS are hereditary onychoostedysplasia,iliac horn syndrome, Fong disease orTurner-Kiser syndrome.
Neurofibromatosis: An autosomal dominant condition, neurofibromatosis (abbreviated NF) is a genetically inherited condition in which nerve tissue grow tumors, that may be benign or may cause medical complications by compressing nerves and tissues around them. Hence, in this disorder the bones, nervous system, the spine and the skin are affected. Tumors under the skin may appear as bumps and are associated with skin discoloration. Learning disabilities are also associated with this disorder. There are two types of this disorder. Neurofibromatosis type 1 is more common than neurofibromatosis type 2. While type 1 is caused due to mutation in chromosome 17, neurofibromatosis type 2 is the result of a mutation in chromosome 22. Due to lack of any cure, treatment is aimed at managing symptoms and complications. In case, the tumor becomes cancerous (as happens with 10% of the cases), chemotherapy may be required. Surgery is resorted to, when the tumor compresses any organ or specific tissue of the body.
Noonan Syndrome: It is an autosomal dominant genetic disorder that may be inherited or arise due to spontaneous mutation in genes KRAS, PTPN11, RAF1, and SOS1. Individuals suffer from developmental disabilities that result in heart malformations, short stature, characteristic facial features, impaired blood clotting and indentation of the chest. Speech, language and learning disabilities are also common.
Triple X Syndrome: As the name suggests, trisomy refers to the genetic disorder which results in an extra copy of the X chromosome in females. This disorder is variably known as the XXX syndrome, triplo-X, trisomy X, and 47,XXX aneuploidy. This genetic disorder is not inherited. It is caused due to non-disjunction during cell division, that results in an extra copy of chromosome in reproductive cells. In some cases, the extra copy of X chromosome may be caused during cell division in early embryonic development. Women with this disorder.
Osteogenesis Imperfecta: This is an autosomal dominant disorder of the connective tissue in which bones break easily and sometimes due to no apparent reason. Hence, it is also known as brittle bone syndrome or Lobstein disorder. Genetic mutation impairs synthesis of collagen - a protein that makes bones strong. Osteogenesis Imperfecta may also weaken muscles, cause brittle bones, curved spine and a impaired hearing. Exercise, physical therapy, medicines and orthopedic devices are the only treatment available for people suffering from this disorder, as cure hasn't yet been found.
Patau Syndrome: Also known as trisomy D or trisomy 13, Patau syndrome is caused due to non-disjunction of chromosome 13 during meiosis, due to which, an affected individual inherits an extra copy of the chromosome. Robertsonian translocation can be another cause of this disorder. Like other genetic disorders in human that originate due to non-disjunction of chromosomes, the incidence of Patu syndrome increases with maternal age. The extra copy of chromosome results in kidney and heart defects, neurological problems, facial defects, polydactyly (having extra fingers) and deformed feet. Features of this disorder are present from birth and may be confused with Edward's syndrome. Hence, genetic testing is important to confirm diagnosis. While certain infants may be able to survive only for a couple of days, depending upon the severity of the conditions, those who survive with milder symptoms undergo treatment, focusing the particular disability that each individual suffers from.
Retinoblastoma: Retinoblastoma is a cancer of the retina, that affects children younger than 5 years. It can be genetic as well as non genetic. The genetic form, which is the cause in almost half of the cases of retinoblastoma, is the result of mutation in chromosome 13. Retinoblastoma usually affects one eye. Characteristic physical feature is whiteness of the retina, which is referred to as "cat's eye reflex" or leukocoria. Other symptoms include, deterioration in vision, eye pain, redness and irritation in the eye. Retiblastoma is curable if treated at an early stage. However, if not treated on time, cancer may spread out from the eye to other parts of the body.
Rett Syndrome: Rett syndrome is a neurological and developmental disorder that is inherited through X-linked dominant pattern. It occurs almost exclusively in females. For about a year of normal growth, girls with Rett syndrome show clinical features that include decreased rate of head growth, small hands and feet, disabilities related to learning communication, coordination and speech. Affected girls lose control over purposeful use of hands and show repetitive movements like wringing of the hands and clapping.
Usher Syndrome: Inherited in autosomal recessive pattern, Usher syndrome or Usher's syndrome is the result of mutation in chromosome 10, that results in deafness and progressive loss of vision. Vision loss is caused due to an eye disease called retinitis pigmentosa (RP), whereas hearing loss is associated with a defective inner ear. There are three clinical varieties of this disorder, designated as I, II and III in decreasing order of severity. Currently, no cure for this disease is available. However, gene therapy is being progressively investigated to find a possible cure. Till then, educational programs to facilitate communication, use of hearing aids or cochlear implants are some options to minimize the symptoms of this disorder.
Von Hippel-Lindau Syndrome: Von Hippel-Lindau syndrome is a rare autosomal dominant genetic disorder in human, that is characterized by the formation of tumors and fluid-filled sacs (cysts) in different parts of the body. The tumors are called hemangioblastomas that are typical of this disorder and consist of newly formed blood vessels and are typically noncancerous. The tumors when formed in brain or spinal cord cause headaches, vomiting and loss of muscle coordination. People suffering from this disorder are prone to developing cygsts in the kidney, pancreas and the male genital tracts. The Von Hippel-Lindau syndrome is of two types. Type I is associated with low risk of developing tumors as opposed to the type II variety in which this risk is quite high.
Waardenburg Syndrome: Waardenburg Syndrome is an autosomal dominant genetic disorder that is characterized by varying degrees of deafness and changes in hair and skin pigmentation. One of the most commonly observed features is, eyes of different colors or brilliantly colored blue eyes. Cleft lip and/or cleft palate is also associated with this syndrome. Deafness arising due to the genetic defect is treated as any irreversible deafness would be. Other disabilities - physical or neurological are treated symptomatically.
More Genetic Disorders in Humans * * Aceruloplasminemia * Aicardi Syndrome * Alexander Disease * Alkaptonuria * Best's Disease * Canavan Syndrome * Carnitine Deficiencies * Celiac Disease * Charcot-Marie-Tooth Disease * Coffin Lowry Syndrome * Cooley's Anemia or Beta Thalassemia * Cowden Syndrome * Crouzon Syndrome * Cystinosis * Epidermolysis Bullosa * Fabry Disease * Fibrodysplasia Ossificans Progressiva * Gaucher's Disease * Gilbert's Syndrome * Hurler Syndrome * Hypophosphatasia * Hypophosphatasia * Joubert Syndrome * Leukodystrophy * Menkes Sndrome * Mowat-Wilson Syndrome * Mucopolysaccharidosis (MPS) * Muenke Syndrome * Niemann-Pick Disease * Pfeiffer Syndrome * Prader-Willi Syndrome * Rubinstein-Taybi Syndrome * Shwachman Syndrome * Smith-Magenis Syndrome * Stickler Syndrome * Variegate Porphyria * Wolf-Hirschhorn Syndrome
Albinism: Albinism is a congenital disorder in which there is little or completely no production of melanin in hair, skin and iris of the eyes. Hence albinos (people suffering from albinism) have light colored skin, hair and eyes. It is caused due to inheritance of recessive alleles from parents. This disorder can't be cured. However, the symptoms can be alleviated with the help of surgical treatment, vision aids and using device that provide protection from sun.
Alzheimer's Disease: Alzheimer's disease is the most common form of dementia which is …show more content…
characterized by gradual memory loss, irritability, mood swings, confusion and language breakdown. Although, scientists are not unequivocal about the cause of this disease, the most widely accepted reason is the amyloid cascade hypothesis, that suggests excess production of a small protein fragment called ABeta (Aβ). Also known as Senile Dementia of the Alzheimer Type (SDAT) or simply Alzheimer's, this is a degenerative disease and scientists are yet to find its cure. However, balanced diet, mental exercises and stimulation are often suggested for prevention and managing of the disease.
Angelman syndrome: It is a neurological disorder that was first described by a British pediatrician, Dr. Harry Angelman, in 1965. This disorder is marked by intellectual and developmental delays, severe speech impairment and problems in movement and balance, recurrent seizures and small heads. Children with Angelman syndrome typically have a happy demeanor. They are hyperactive with short attention span and show jerky hand movements. These children appear normal at birth. This genetic disorder in human is a classical case of genetic imprinting, in which the disorder is caused due to deletion or activation of the maternally inherited chromosome 15. Its sister syndrome is the Prader-Willi syndrome in which there is a similar loss or inactivation of the paternally inherited chromosome 15.
Bardet-Biedl Syndrome: It is a pleiotropic recessive genetic disorder that is characterized by obesity, polydactyly, deterioration of rod and cone cells, mental retardation and defect in the gonads and kidney disease.
It is difficult to diagnose Bardet-Biedl Syndrome, specially in the young. As no cure is yet known for the disorder, treatment is concentrated on specific organs and systems.
Barth Syndrome: A rare but serious sex linked genetic disorder, the Barth syndrome is caused due to mutations or alterations in the BTHS gene. The gene is located on the long arm of X chromosome. This disorder primarily affects the heart. Besides heart defects, Barth syndrome results in poor skeletal musculature, short stature, mitochondrial abnormalities and deficiency of white blood cells. There is no cure for this disorder. Treatment focuses on managing the symptoms and preventing
infections.
Bipolar Disorder: Also known as manic depressive disorder or bipolar affective disorder, individuals suffering from bipolar disorder suffer from highly elevated moods, referred to as mania or episodes of severe depression. Research shows that both genetic as well as environmental factors are responsible for this disorder. Medicines as well as psychotherapy is found to be useful in dealing with the severe mood swings associated with the disorder.
Jackson-Weiss Syndrome: It is an autosomal dominant genetic disorder in which there are foot abnormalities, and premature fusion of bones in the skull lead to deformations of the facial features (widely spaced eyes, bulging forehead) and the skull. In this syndrome, the great toes are short and wide and turn away from the rest of the toes. Some toes may be fused or have some other abnormalities. The mutation is caused in the FGFR2 gene which is located in chromosome 10. Treatment involves corrective surgery for deformed bones in face and foot.
Klinefelter Syndrome: It is the most common sex linked genetic disorder. In which males have an extra X chromosome. Hence ,this disorder is also known as 47, XXY or XXY syndrome. The most common symptom is infertility. Besides this, males with the XXY syndrome have impaired physical, language and social developments. As these individuals produce less testosterone than other males, such teenagers may be less muscular and have less facial hair than their peers. The presence of the extra X chromosome can't be undone. However, testosterone replacement therapy, a variety of therapeutic options like behavioral, speech and occupational therapy and educational treatments are the options available for those suffering from Klinefelter's syndrome.
Krabbe Disease: Krabbe disease is a rare degenerative disorder of the nervous system. It occurs due to mutation in the GALC gene which results in deficiency of enzyme galactosylceramidase. Deficiency of this enzyme affects the development of the myelin sheath of nerve cells. This disorder is inherited in autosomal recessive pattern and manifests itself in babies of 6 months of age. However, it can occur during adolescence or adulthood as well. Bone marrow transplant has help some who suffer from mild form of this disorder. Treatment is usually symptomatic and supportive.
Langer-Giedion Syndrome: Langer-Giedion syndrome is a genetic disorder in human that is caused due to deletion or mutation of at least two genes on chromosome 8. This is not an inherited disorder. It is caused due to random events during formation of reproductive cells (sperms and eggs) in individuals. This is a rare disorder that causes bone abnormalities and typical facial features. Individuals suffering from Langer-Giedion syndrome have multiple non-cancerous tumors in their bones that cause pain, restrict joint movement and exerts pressure on nerves, blood vessels, spinal cord and the tissues surrounding the tumors. Some intellectual disability may be associated with this disorder. External fixators can be used for facial and limbic reconstructions.
Nail-Patella Syndrome: Nail-patella syndrome (NPS) is inherited via autosomal dominant pattern. It is a disorder that affects the joints, bones, fingernails and kidneys. It is most commonly characterized by lack of nail and knee caps. Bone deformations manifest in elbow and abnormally shaped hip bone. Research shows that individuals suffering from the NPS are susceptible to developing glaucoma and scoliosis. Other names for NPS are hereditary onychoostedysplasia,iliac horn syndrome, Fong disease orTurner-Kiser syndrome.
Neurofibromatosis: An autosomal dominant condition, neurofibromatosis (abbreviated NF) is a genetically inherited condition in which nerve tissue grow tumors, that may be benign or may cause medical complications by compressing nerves and tissues around them. Hence, in this disorder the bones, nervous system, the spine and the skin are affected. Tumors under the skin may appear as bumps and are associated with skin discoloration. Learning disabilities are also associated with this disorder. There are two types of this disorder. Neurofibromatosis type 1 is more common than neurofibromatosis type 2. While type 1 is caused due to mutation in chromosome 17, neurofibromatosis type 2 is the result of a mutation in chromosome 22. Due to lack of any cure, treatment is aimed at managing symptoms and complications. In case, the tumor becomes cancerous (as happens with 10% of the cases), chemotherapy may be required. Surgery is resorted to, when the tumor compresses any organ or specific tissue of the body.
Noonan Syndrome: It is an autosomal dominant genetic disorder that may be inherited or arise due to spontaneous mutation in genes KRAS, PTPN11, RAF1, and SOS1. Individuals suffer from developmental disabilities that result in heart malformations, short stature, characteristic facial features, impaired blood clotting and indentation of the chest. Speech, language and learning disabilities are also common.
Triple X Syndrome: As the name suggests, trisomy refers to the genetic disorder which results in an extra copy of the X chromosome in females. This disorder is variably known as the XXX syndrome, triplo-X, trisomy X, and 47,XXX aneuploidy. This genetic disorder is not inherited. It is caused due to non-disjunction during cell division, that results in an extra copy of chromosome in reproductive cells. In some cases, the extra copy of X chromosome may be caused during cell division in early embryonic development. Women with this disorder.
Osteogenesis Imperfecta: This is an autosomal dominant disorder of the connective tissue in which bones break easily and sometimes due to no apparent reason. Hence, it is also known as brittle bone syndrome or Lobstein disorder. Genetic mutation impairs synthesis of collagen - a protein that makes bones strong. Osteogenesis Imperfecta may also weaken muscles, cause brittle bones, curved spine and a impaired hearing. Exercise, physical therapy, medicines and orthopedic devices are the only treatment available for people suffering from this disorder, as cure hasn't yet been found.
Patau Syndrome: Also known as trisomy D or trisomy 13, Patau syndrome is caused due to non-disjunction of chromosome 13 during meiosis, due to which, an affected individual inherits an extra copy of the chromosome. Robertsonian translocation can be another cause of this disorder. Like other genetic disorders in human that originate due to non-disjunction of chromosomes, the incidence of Patu syndrome increases with maternal age. The extra copy of chromosome results in kidney and heart defects, neurological problems, facial defects, polydactyly (having extra fingers) and deformed feet. Features of this disorder are present from birth and may be confused with Edward's syndrome. Hence, genetic testing is important to confirm diagnosis. While certain infants may be able to survive only for a couple of days, depending upon the severity of the conditions, those who survive with milder symptoms undergo treatment, focusing the particular disability that each individual suffers from.
Retinoblastoma: Retinoblastoma is a cancer of the retina, that affects children younger than 5 years. It can be genetic as well as non genetic. The genetic form, which is the cause in almost half of the cases of retinoblastoma, is the result of mutation in chromosome 13. Retinoblastoma usually affects one eye. Characteristic physical feature is whiteness of the retina, which is referred to as "cat's eye reflex" or leukocoria. Other symptoms include, deterioration in vision, eye pain, redness and irritation in the eye. Retiblastoma is curable if treated at an early stage. However, if not treated on time, cancer may spread out from the eye to other parts of the body.
Rett Syndrome: Rett syndrome is a neurological and developmental disorder that is inherited through X-linked dominant pattern. It occurs almost exclusively in females. For about a year of normal growth, girls with Rett syndrome show clinical features that include decreased rate of head growth, small hands and feet, disabilities related to learning communication, coordination and speech. Affected girls lose control over purposeful use of hands and show repetitive movements like wringing of the hands and clapping.
Usher Syndrome: Inherited in autosomal recessive pattern, Usher syndrome or Usher's syndrome is the result of mutation in chromosome 10, that results in deafness and progressive loss of vision. Vision loss is caused due to an eye disease called retinitis pigmentosa (RP), whereas hearing loss is associated with a defective inner ear. There are three clinical varieties of this disorder, designated as I, II and III in decreasing order of severity. Currently, no cure for this disease is available. However, gene therapy is being progressively investigated to find a possible cure. Till then, educational programs to facilitate communication, use of hearing aids or cochlear implants are some options to minimize the symptoms of this disorder.
Von Hippel-Lindau Syndrome: Von Hippel-Lindau syndrome is a rare autosomal dominant genetic disorder in human, that is characterized by the formation of tumors and fluid-filled sacs (cysts) in different parts of the body. The tumors are called hemangioblastomas that are typical of this disorder and consist of newly formed blood vessels and are typically noncancerous. The tumors when formed in brain or spinal cord cause headaches, vomiting and loss of muscle coordination. People suffering from this disorder are prone to developing cygsts in the kidney, pancreas and the male genital tracts. The Von Hippel-Lindau syndrome is of two types. Type I is associated with low risk of developing tumors as opposed to the type II variety in which this risk is quite high.
Waardenburg Syndrome: Waardenburg Syndrome is an autosomal dominant genetic disorder that is characterized by varying degrees of deafness and changes in hair and skin pigmentation. One of the most commonly observed features is, eyes of different colors or brilliantly colored blue eyes. Cleft lip and/or cleft palate is also associated with this syndrome. Deafness arising due to the genetic defect is treated as any irreversible deafness would be. Other disabilities - physical or neurological are treated symptomatically.
More Genetic Disorders in Humans * * Aceruloplasminemia * Aicardi Syndrome * Alexander Disease * Alkaptonuria * Best's Disease * Canavan Syndrome * Carnitine Deficiencies * Celiac Disease * Charcot-Marie-Tooth Disease * Coffin Lowry Syndrome * Cooley's Anemia or Beta Thalassemia * Cowden Syndrome * Crouzon Syndrome * Cystinosis * Epidermolysis Bullosa * Fabry Disease * Fibrodysplasia Ossificans Progressiva * Gaucher's Disease * Gilbert's Syndrome * Hurler Syndrome * Hypophosphatasia * Hypophosphatasia * Joubert Syndrome * Leukodystrophy * Menkes Sndrome * Mowat-Wilson Syndrome * Mucopolysaccharidosis (MPS) * Muenke Syndrome * Niemann-Pick Disease * Pfeiffer Syndrome * Prader-Willi Syndrome * Rubinstein-Taybi Syndrome * Shwachman Syndrome * Smith-Magenis Syndrome * Stickler Syndrome * Variegate Porphyria * Wolf-Hirschhorn Syndrome