...Spinocerebellar Ataxia (SCA) Last updated November 2010 Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive in-coordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms. The symptoms of the condition vary with the specific type (there are several), and with the individual patient. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control. Treatment and prognosis There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability. Treatments are generally limited to softening symptoms, not the disease itself. The condition can be irreversible. A person with this disease will usually end up needing to use a wheelchair, and eventually they may need assistance to perform daily tasks. The treatment of in-coordination or ataxia mostly involves the use of adaptive devices to allow the ataxia individual to maintain as much independence as possible. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait; devices to assist with writing, feeding, and self cares if hand and...
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...Sickle Cell 1. Sickle Cell disease are genetic disorders resulting from the presence of a mutated of a form of hemoglobin, and found in commonly in North America is homozygous disease, an autosomal recessive disorder first described by Herrick in 1910 and causes significant morbidity and mortality, particularly in African people and Mediterranean ancestry. 2. Approximately half the individuals with homozygous HbS disease experience vaso-occlusive crises. The frequency of crises is extremely variable. Some individuals have as 6 or more episodes annually, whereas others may have episodes only at great intervals or none at all. Each individual typically has a consistent pattern for crises frequency. And occur in children that are carriers inherit the sickle cell disease from both parents. 3. Because the genetic disorder is completely recessive, a person with only one SCS alleles and on unaffected allele will have a mixed phenotype and won’t suffer the experience the ill effects of the disease and yet still poses a sickle cell trait. If two carriers will have 25% chance of disease and 50% a child will be a carrier. 4. It will be caused by the presence of two incompletely recessive red blood cells are exposed to low-oxygen conditions, cells lose their healthy round shape and become sickle cell shaped. 5. Everyone is carriers of genes that are responsible for creating hemoglobin. 6. I would just be honest with the couple and make them understand all about...
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...Tay–Sachs disease is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells. There is no known cure or treatment. Tay–Sachs disease is typically first noticed in infants around 6 months old displaying an abnormally strong response to sudden noises or other stimulus, known as the "startle response". There may also be listlessness or muscle stiffness (hypertonia). The disease is classified into several forms, which are differentiated based on the onset age of neurological symptoms.Infantile Tay–Sachs disease. Infants with Tay–Sachs disease appear to develop normally for the first six months after birth. Then, as neurons become distended with gangliosides, a relentless deterioration of mental and physical abilities begins. The child may become blind, deaf, unable to swallow, atrophied, and paralytic. Death usually occurs before the age of four.Juvenile Tay–Sachs disease. Juvenile Tay–Sachs disease is rarer than other forms of Tay–Sachs, and usually is initially seen in children between two and ten years old. People with Tay–Sachs disease develop cognitive and...
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...and deadly diseases. However, not everyone can say the last years of his or her life were even remotely close to healthy. Losing someone you love and care about to natural causes is sad enough as it is. Losing someone to a disease that progressively incapacitates your mental and physical capabilities is something entirely different. An example of such a malignant disorder is Huntington’s Disease, an inherited, degenerative brain disorder that is now diagnosed in 1 out of every 10,000 Americans. Huntington’s Disease Society of America is a voluntary, non-profit health organization dedicated to facilitate the lives of those who have inherited the disease by promoting and supporting scientific and medical research in hopes of developing a treatment or cure. The purpose of this report is to inform the community about the value and importance of the HDSA’s mission and goals and the impact it will have on the victims of this destructive brain disorder. What is Huntington’s Disease? Huntington’s Disease as defined by the Huntington’s Disease Society of America is “a devastating, hereditary, degenerative brain disorder…[that] slowly diminishes the affected individual's ability to walk, talk and reason.” Essentially, the victim loses capability of all motor skills and causes involuntary muscle movements, leaving them fully dependent of another person. Involuntary muscle movements are neurological abnormalities, meaning they have absolutely no control over any sort of muscle including...
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...Kodaira, Tokyo, Japan Abstract The term “congenital myopathy” is applied to muscle disorders presenting in infancy with generalized muscle weakness and hypotonia followed by delayed developmental milestones. The myopathy has been differentiated diagnostically on the basis of their morphologic characteristics and includes nemaline myopathy, central core disease, myotubular (centronuclear) myopathy and congenital fiber type disproportion. In most of these disorders, there are 3 distinct subtypes: severe infantile, benign congenital and adult onset forms. The mode of inheritance and gene loci are variable, although each disorder shares the common clinical features including facial and prominent neck flexor weakness and preferential respiratory muscle involvement. All mutations identified in nemaline myopathy are localized to the actin filament components, suggesting that the disease is related to sarcoplasmic thin filaments or Z-protein abnormalities. On the other hand, X-linked myotubular myopathy has mutations in a family of tyrosine phosphatase (myotubularin gene) and central core disease in ryanodine receptor gene. In all these disorders, the common pathologic features are small muscle fibers with type 1 fiber atrophy and predominance, which account for the small muscle bulk and generalized muscle weakness. INTRODUCTION NEMALINE MYOPATHY The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with...
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...BACK THE TRUCK UP!/Ch.2-3 1. Disorders of the neonate may involve any system and are broken down into the following types. Congenital, Genetic, and Teratogenic 2. Disorders of the neonate cause ½ of all deaths in term newborns. True 3. A major anomaly in disorders of the neonate is usually apparent at birth in 3 to 4% of newborns. True 4. Which disorder or syndrome is most likely caused by a teratogen? Fetal Alcohol syndrome 5. The recessive disorders are easy to detect using carrier screening and have a high morbidity and mortality. True 6. What tow primary (least evasive) approaches are used to monitor fetal growth, development, and to identify pregnancy risks for a congenital anomaly? Maternal serum screening and ultrasonography 7. Five percent of all pregnant women screened will have abnormal test results when there is an unaffected pregnancy. True 8. Maternal Serum Screening can detect the risk for which condition? Possible Neural Tube Defect 9. The leading indication for invasive diagnostic is advanced maternal age. True 10. What would be the outcome for an autosomal recessive trait, statistically speaking, if a person who is a heterozygous carrier has children with a homozygous normal individual? (Use Boxes) Fifty percent of the children will be carriers and fifty percent will be normal. 11. Maternal Serum Screening is considered diagnostic test used to determine the type of disorder your baby will have when born. False 12. Which serum blood...
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...Tay-Sachs disease is an inherited recessive gene disorder that progressively destroys nerve cells within the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear to be developing normally until the age of three to six months. Typically after this point is when their development slows and muscles begin to weaken. These infants lose motor skills and identifiable milestones such as turning over, sitting, and crawling. Another sign of this disease is the sudden startle reaction to loud noises. As the disease progresses, children often begin to acquire seizures, vision and hearing loss, and paralysis. A common characteristic of this disease is an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Often times this is how the disease is found when at a doctor’s visit. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood, usually somewhere between the ages of three to five....
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...Genetic Disease Project – Tay-Sachs Disease Tay-Sachs is an autosomal recessive genetic disorder caused by a mutation in the HEXA gene on chromosome 15 that damages the nerves of the brain and spinal cord. It is also known as GM2 gangliosidosis because of the accumulation of gangliosides (especially and particularly GM2 gangliosides, a component of the cell membrane) in the brains nerve cells which leads to premature death of the cells and is the cause of the deterioration the patient exhibits. The disease is named after two physicians, Waren Tay and Bernard Sachs. Tay was the first to define and discuss the cherry-red spot in on the retina, which is an indicator of the disease. Sachs was a neurologist that studied the Ashkenazi Jew population and noticed the cellular changes of the disease and its increase prevalence in isolated populations. An individual with the disease will fall into one of three classifications, infantile (the most common), juvenile on-set and adult on-set. Classification of Tay-Sachs depends on the symptoms and the age at which the symptoms occur. The prognosis is not a favorable as the disease is severely degenerative and usually results in death of the infant or juvenile. Adults become wheelchair bound but may not die of the disease. Babies with infantile Tay-Sachs appear normal for the first few months after birth but as the gangliosides begin to accumulate and distend and stress the neurons the mental and physical deterioration begins. This...
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...in an autosomal recessive pattern and has been linked to genetic mutations on chromosomes 3, 18, and 14. How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in the medical literature. Many children diagnosed with Seckel syndrome are born to parents who are consanguineous, or closely related. This often causes prominent physical malformations, including a very short stature and a bird-like appearance. Serious mental retardation and blood disorders are also present in the majority of Seckel syndrome patients. Helmut Paul George Seckel was a prominent German physician who immigrated to the United States during World War II. In 1960, Seckel was the first physician to describe this disorder. It is also sometimes referred to as microcephalic primordial dwarfism, bird-headed dwarfism, and Virchow-Seckel dwarfism. A variant to this type of dwarfism is also known as Harper's syndrome, which was named after Dr. Rita G. Harper. Seckel syndrome is very rare, and only a handful of infants are diagnosed with it. It is believed to be a genetic disorder. Individuals born with this disorder typically have mutated chromosomes.These mutations can cause several physical mutations. An infant with Seckel syndrome will usually be born with a very low birth weight, due to improper growth prior to birth. Most of these infants will usually only weigh around 3 pounds (1,360.8 grams) at birth. As with most other types of dwarfism and growth disorders, these...
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...The Sphingolipidoses are a group of Lysosomal Storage Disorders (LSDs), which individually are considered rare diseases; however, their collective incidence is approximately 1 in 5000-9000 live births. This number is dependent on the location and population, with some regions presenting a much higher proportion of cases than others. These diseases consequently together comprise a vast proportion of the healthcare system and therefore there is a need to investigate novel treatments as well as more efficient and effective diagnostic methods. There are approximately 50 different Lysosomal storage disorders (LSDs), which involve cases where a mutation exists in a gene encoding a lysosomal enzyme required to breakdown a certain substrate. Lysosomes are important membrane bound organelles which contain many hydrolytic digestive enzymes. The lysosome is acidic and acts as the site of the breakdown of various substrates in cells. The contents is then transported and secreted via fusion with the plasma membrane of a cell. Mutations in genes encoding these enzymes cause the product to accumulate within the lysosomes of cells and have the devastating clinical manifestations associated with the disease2. The Sphingolipidoses are diseases...
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...According to The Huntington's Disease Society of America Huntington's disease is an inherited disorder that results in the progressive loss of both mental facilities and physical control. The symptoms of Huntington's disease can range anywhere from behavioral issues such as mood swings or a total change of personality to loss of coordination or even trouble swallowing. “Huntington's disease is caused by inheriting a mutation in The HTT gene” (Genetics Home Reference). At this point in time there is no cure for Huntington's but there has been some progress in slowing down the disease. “People who are diagnosed with Huntington's disease don’t usually have any signs or symptoms until they are between the ages of thirty to fifty” (HDSA.org). In some very rare cases the symptoms can start in childhood. This type of the disease progresses much faster and the teenager or child who gets it usually only lives ten to fifteen years after being diagnosed. “In the early stages of Huntington's the most common symptoms are poor memory, depression, lack of coordination, and...
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...Galactosemia A genetic disorder is a sickness when your genes or chromosomes have abnormalities. There are many different types of genetic disorders from Breast Cancer to Turner Syndrome. The genetic disorder I'm doing is Galactosemia, Galactosemia is an inherited metabolic disorder in which galactose builds up in the blood because of deficiency of an enzyme catalyzing its conversion to glucose. Galactosemia is caused by the lack of a liver enzyme that is needed to metabolize Galactose. It's transmitted by the presence of 2 recessive mutant genes on a autosome. It's also a very rare disease. Galactosemia usually occurs in infants. Some of the symptoms are, vomiting, yellowish color in the skin, when the baby refuses to drink milk/ formula's, poor weight gain, laziness, irribality, and convulsions. Galactosemia is very rare, but it is very serious when a child gets it. If it isn't treated it can result in mental retardation, permanent growth issues, coil infections, severe e, or more. Galactosemia is inherited when both parents of a child, who both carry a autosomal recessive condition. Also they both have to carry a mutated gene, they usually don't show any signs or symptoms of Galactosemia. Galactosemia is very rare, it has 1 in every 300,000 people have it in the USA. Galactosemia was discovered in 1908 by Von Ruess. It was reported when a infant was breast-fed and the infant failed to thrive. The only way they could treat it was to remove milk products from the diet. Gatactosemia...
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...Huntington’s disease is an autosomal dominant neurodegenerative condition that is currently untreatable and inevitably fatal. Associated signs and symptoms include involuntary and impaired movement (chorea and dystonia), compromised cognitive abilities and psychiatric disorders such as depression, obsessive compulsive disorder, mania and bipolar disorder (Mayo Clinic Staff, 2014). Although symptoms usually appear between the ages of 35 and 55, they can begin at any age and usually cause death within 10 to 20 years. (Nordqvist, 2014) The source of Huntington’s disease was first traced to chromosome 4 with Southern blotting techniques and then focused more precisely between 4p16.1 and 4p16.3, on the short arm, using in-situ hybridization (Wang...
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...Disease: Galactosemia There are many genetic diseases out there today, but one that caught my attention was Galactosemia. Galactosemia is a genetic disorder that affects how the body processes the simple sugar, galactose. There are three types of Galactosemia; Classic Galactosemia, Galactosemia Type II, and Galactosemia Type III. All three types are inherited in an autosomal recessive pattern but the most common is the classic Galactosemia. According to the Genetics Home Reference, it states, “Classic Galactosemia occurs in 1 in 30,000 to 60,000 newborns, Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare.” This disorder is rare but if affected with it, can show symptoms that range from mild to very severe if not controlled. Those who are affected with classic galactosemia lack the enzyme Galactose 1-phosphate; (GALT), galactosemia type II has a mutation in the GALKI gene and in type III, the GALE gene. Galactose is one of the products formed from lactose when absorbed into the body. In an unaffected person, GALT will bind to galactose, which later converts to glucose and then used for energy. In an affected person, there is no GALT, so the build up of galactose will cause toxic affects on the organs. This is a very dangerous disorder one can have, but it is especially dangerous to newborns because they will not be able to drink any milk that contains lactose, which unfortunately includes...
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...Parkinson’s Disease The genetic disorder I chose as my final project is Parkinson’s disease. I chose this topic because I have had numerous patients with Parkinson’s disease and I wanted to learn more about it. Before my research, I didn’t know much about the genetic structures or processes that are involved with Parkinson’s, I just knew the symptoms my patients exhibited, some of which included: uncontrollable tremors, slow motor decline where the patient became unable to feed/dress/take care of self, and mental decline with dementia/hallucinations (www.pdf.org, 2014, para: symptoms). In my experience, it is a hard disease to control later in life because it tends to be a slow progressing disease, which tends to leave the patient completely...
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