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Posts Tagged ‘Dominance (genetics)’

Glycogenosis Type V and Receiving Social Security Disability

Monday, July 25th, 2011
Glycogen, a branched polysaccharide

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Glycogenosis type V is one of the glycogen storage diseases. What this means is that there is an inborn error of metabolism. It is an autosomal recessive metabolic disorder. Glycogenosis type V is evidenced by a deficiency in glycogen debranching enzymes.

Glycogenosis type V is a rare disorder. It takes place in around 1 out of every 100,000 live births in the United States.

Glycogenosis type V is a genetically linked metabolic disorder involving the enzymes that regulate glycogen metabolism. This is in common with other glycogen storage diseases. These enzymes affect synthesis or the processing of glycogen breakdown within your liver, ahaha muscles and other cell types. The process is halted if any one of these enzymes is faulty and does not finish its step. A different enzyme is involved in each step of the process. The type of glycogen storage disease that you have is determined by which particular enzyme is defective.

Glycogenosis type V is marked by a problem with glycogen storage in your body. There is an abnormal build up of glycogen in your muscle tissue. Glycogenosis type V usually starts in early childhood.

Glycogenosis type V is an hereditary (inherited) or genetic condition. As mentioned at the beginning, the pattern of inheritance is what is known as autosomal recessive. This means that you have to inherit a defective (mutated) gene from each one of your parents in order to have the possibility of having glycogenosis type V.

The dominant form of the disorder is rare. Glycogenosis type V is caused by a deficiency of myophosphorylase. This is the muscle isoform of the enzyme glycogen phosphorylase. Myophosphorylase helps break down glycogen into glucose so that it can be used within your muscle cells.

There are several signs and symptoms that you may experience that may be an indication that you have glycogenosis type V. Most of these signs and symptoms are related to exercise. Possible signs and symptoms are:

  • Painful cramps
  • Early fatigue
  • Exercise intolerance with myalgia (muscular pain)
  • Weakness of exercising muscles
  • Myoglobinuria (the presence of myoglobin in your urine).

You may show substantial muscle loss and progressively increasing weakness as you age. The signs and symptoms of many people get worse after middle age due to muscle wasting.

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Early-Onset Glaucoma and Receiving Social Security Disability

Thursday, June 30th, 2011
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Early-Onset Glaucoma and Receiving Social Security Disability

Glaucoma has the nickname “sneak thief of sight” because the loss of your visual field often takes place gradually over a long period of time and may only be discovered when it is already well advanced. In fact, as many as half of the people with glaucoma are not aware that they have this disorder.

Glaucoma is a major problem all over the world. Worldwide, glaucoma is the number one cause of irreversible blindness. In fact, as many as 6 million individuals are blind in both eyes because of this disorder. In the United States alone, it is estimated that over 3 million people have glaucoma.

Glaucoma occurs most often in older adults. The risk of older adults developing glaucoma can be affected by several different medical conditions. These include family history, hypertension (high blood pressure) and diabetes mellitus.

When an individual develops glaucoma before the age of 40, it is referred to as early-onset glaucoma. The risk of getting early-onset glaucoma is primarily determined by heredity.

There are different forms of early-onset glaucoma. These include primary congenital glaucoma and juvenile open-angle glaucoma.

Early-onset glaucoma occurs most often as a result of inheriting a defective (mutated) gene from your parents. Depending on the type of early-onset glaucoma that you have, you may inherit the possibility of developing this disorder in either an autosomal dominant or autosomal recessive pattern. If you get the defective gene from one of your parents, it is autosomal dominant. It is autosomal recessive if your get the mutated gene from both of your parents.

Although early-onset glaucoma is usually due to inheriting a defective gene from your parents, for reasons that doctors do not totally understand, intraocular pressure (increased pressure within your eye) is what is associated with the damage to your optic nerve that marks early-onset glaucoma. You could think of it in this way. The defective gene is what causes the increased pressure to take place in your eye. The increased pressure is what actually damages your optic nerve resulting in early-onset glaucoma.

There are several signs and symptoms that you may have with early-onset glaucoma. Some of these are:

  • Excessive tearing
  • Abnormal sensitivity to light
  • Eventual blindness
  • Reduction in peripheral (side) vision
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Epidermolysis Bullosa Simplex and Receiving Social Security Disability

Monday, June 20th, 2011
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Epidermolysis bullosa refers to a group of mostly inherited skin conditions that cause your skin to become extremely fragile. The hallmark indication of this condition is blistering that comes as a response to heat, minor injury or friction from scratching or rubbing.

Infants and young children are affected by most of the forms of epidermolysis bullosa. However, the signs and symptoms of these conditions may not develop until adolescence or early adulthood in people who have milder forms of epidermolysis bullosa. These milder forms may get better as you get older, but the severe kinds of epidermolysis bullosa may cause serious complications and even be fatal.

There are three main types of epidermolysis bullosa. Epidermolysis bullosa simplex is one of these three main forms of the condition.

Epidermolysis bullosa simplex is the most common and generally mildest type of this condition and usually starts at birth or in early infancy. This condition is marked by your skin splitting in the epidermis (outer or top layer of your skin) due to an error in the production of keratin, which is a fibrous protein that is located in the epidermis. When your skin splits, it makes blisters.

As mentioned at the beginning, epidermolysis bullosa simplex is inherited most of the time. It is nearly always inherited in a way that is referred to as autosomal dominant. This means that you only have to inherit a faulty (defective) gene from one of your parents in order to have the possibility of having this condition. It is possible to inherit epidermolysis bullosa simplex in a way that is known as autosomal recessive. This is where you inherit a mutated gene from both of your parents.

The hallmark sign or symptom of epidermolysis bullosa simplex is the eruption of fluid-filled bullae (blisters) on your skin. This occurs most frequently on your feet and hands as a result of friction. Other possible signs and symptoms include:

  • Hyperkeratosis (thickening of your skin on the soles of your feet and your palms)
  • Milia (tiny white skin pimples or bumps)
  • Dental abnormalities like tooth decay resulting from poorly formed tooth enamel
  • Loss or deformity of your toenails and fingernails
  • Scarring alopecia (scalp blistering, scarring and hair loss)
  • Atrophic scarring (skin that appears thin)
  • Internal blistering that may take place on your upper airway, intestines, throat, stomach, urinary tract and esophagus.

You or a loved one may have epidermolysis bullosa simplex. Epidermolysis bullosa simplex and/or complications that have developed from it or other illnesses that you have in conjunction with this condition may have resulted in you or your loved one’s disability and inability to work.

Because of this, you may need help. You may need financial assistance.

You or your loved one may consider applying for the financial help that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability that has developed from epidermolysis bullosa simplex and/or complications that have been brought about by it or other illnesses that you have in conjunction with this condition. You may have already applied and been denied by the Social Security Administration.

If you or your loved one decides to reapply or appeal the denial, remember this important fact that you may not know about. The simple truth is that people who have a disability lawyer in their corner like the one you will find at disabilitycasereview.com are approved more often than people who are not represented by a disability attorney.

Please do not wait. This could be extremely important to you or your loved one. Contact the disability lawyer at disabilitycasereview.com, today.

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Dystrophic Epidermolysis Bullosa and Receiving Social Security Disability

Friday, June 17th, 2011
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Dystrophic Epidermolysis Bullosa and Receiving Social Security Disability

Epidermolysis bullosa is a term that is used to refer to a group of inherited ailments that cause your skin to become extremely fragile. Because of this, skin blisters occur in response to minor heat or injury or friction from rubbing or scratching.

Most of the types of epidermolysis bullosa usually occur in infants and young children, but the signs and symptoms of these ailments may not be evidenced until adolescence or early adulthood in those who have the milder forms of this disorder. These milder forms may improve with age. However, the severe types of epidermolysis bullosa may result in serious complications and even be fatal.

Epidermolysis bullosa is an ailment that affects all racial and ethnic groups. Men and women seem to be affected equally by this condition. Fortunately, it is a rare ailment that occurs in about 50 out of every one million live births.

Dystrophic epidermolysis bullosa is one of the main forms of epidermolysis bullosa. It usually begins at birth or in early childhood.

There are three types of dystrophic epidermolysis bullosa. While these three types vary in severity, their signs and symptoms are similar because they all result from defects (mutations) in the same gene.

As mentioned earlier, dystrophic epidermolysis bullosa is a genetic inherited condition. This means that you get it from your parents. Dystrophic epidermolysis bullosa can be inherited in two different ways. It can be inherited in what is known as an autosomal recessive pattern. This means that you have to inherit a mutated (defective) gene from both of your parents in order to have this ailment. Dystrophic epidermolysis bullosa can also be inherited in an autosomal dominant pattern. In this case, you only have to inherit a defective gene from one of your parents in order to have the possibility of having this condition.

There are several signs and symptoms that you may have with dystrophic epidermolysis bullosa. Some of these are:

  • Skin that is scarred
  • Flaccid blisters
  • Pseudowebbed fingers
  • Miliary cysts
  • Large blisters
  • Alopecia (loss of your hair)
  • Mucosal blisters
  • Malformed nails and teeth
  • Vision loss
  • Disfigurement.

You or a loved one may have been diagnosed with dystrophic epidermolysis bullosa. Dystrophic epidermolysis bullosa and/or complications that have been caused by it or other disorders that you have besides this ailment may have led to the disability of you or your loved one and be what is preventing you from working.

As a result of this, you may need assistance. You may need financial help.

You or your loved one may be thinking about applying for the financial assistance that you need from the Social Security Administration by applying for Social Security disability benefits or disability benefits because of the disability that has been caused by dystrophic epidermolysis bullosa and/or complications that have resulted from it or other disorders that you have besides this ailment. You may have already tried this option, and your claim was turned down by the Social Security Administration.

If you or your loved one is considering reapplying or appealing the denial, here is an important fact for you to keep in mind that you may not have heard of. The fact of the matter is that people who are represented by a disability attorney like the one you will find at disabilitycasereview.com are approved more often than people who do not have a disability lawyer on their side.

Please do not delay or put this off. This could mean so much to you or your loved one. Contact the disability attorney at disabilitycasereview.com, today.

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Cori’s Disease and Receiving Social Security Disability

Friday, July 23rd, 2010
Glycogen, a branched polysaccharide
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You or your child with disability may have Cori’s disease. This may be why you are unable to work. This may be the reason for the disability of you or your child with disability.

As a result, you may need help. You may need financial help.

You may have applied for Social Security disability benefits or disability benefits for you or your child with disability from the Social Security Administration because of the disability caused by Cori’s disease. Were you or your child with disability denied?

You may plan on appealing the denial by the Social Security Administration. If you do, think about this.

You or your child with disability will need the help of a skilled disability attorney like the one at disabilitycasereview.com in this process. This is true is because people who are represented by a smart disability lawyer are approved more often than those people who are without an attorney.

Here is a little information about Cori’s Disease.

Cori’s disease is a type of glycogen storage disease. This means that it is an autosomal recessive metabolic disorder and inborn error of metabolism. It is characterized by a deficiency in glycogen debranching enzymes.

Cori’s disease is a genetically linked metabolic disorder that involves the enzymes regulating glycogen metabolism, like the other glycogen storage diseases. These enzymes affect the processing of glycogen breakdown or synthesis within your liver, ahaha muscles and other cell types.

Each step in the process involves a different enzyme. The process stops if any one of these enzymes is defective and does not complete its step. The type of glycogen storage disease is determined by which enzyme is defective.

Cori’s disease is a rare disease occurring in 1 out of every 100,000 live births. It involves a missing enzyme that causes abnormal amounts of glycogen to be deposited in your skeletal muscles, liver and heart. This can stunt growth and lead to an enlarged liver, acidosis and hypoglycemia.

Cori’s disease is named in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. It is also called Forbes disease in honor of a clinician who further described the features of this disorder. Other names are limit dextrinosis and glycogen storage disease type III.

The clinical course of the disease is similar to that of glycogen storage disease type I. It is generally, but not always, milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in your liver, muscle and erythrocytes.

There are several effects that are caused by Cori’s disease. Some of these are:

  • An enlarged fatty liver
  • Elevated levels of lactate, lipids and uric acid in your blood
  • Low blood sugar
  • Impairment in growth
  • Delaying of puberty
  • Bones weakened by osteoporosis.

It also causes an enlarged heart and muscles prone to wasting. Muscle wasting usually increases with age while other symptoms improve.

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Brugada Syndrome and Receiving Social Security Disability

Monday, June 7th, 2010
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Your heart is the center of your cardiovascular system. Your heart pumps blood to all of your cells through your body’s blood vessels. Your blood carries oxygen that your cells need.

Brugada syndrome is a medical condition that disrupts your heart’s normal rhythm and is marked by a specific abnormal heartbeat. It can result in uncoordinated electrical activity in your heart’s ventricles (lower chambers). This is referred to as ventricular arrhythmia. This, in turn, can lead to fainting, problems breathing, seizures or sudden death.

Brugada syndrome gets its name from the Brugada brothers. They recognized it as a distinct clinical entity in 19992. It is also referred to as Sudden Unexpected Death Syndrome (SUDS)

It is estimated that Brugada syndrome affects 5 in 10,000 people worldwide. Brugada syndrome affects both men and women, but it affects men 8 to 10 times more often than women.

The cause of some cases of Brugada syndrome is not known. It is believed to be an inherited condition. The pattern of inheritance is autosomal dominant. This means that only one of your parents has to have the defective gene. Other possible causes of Brugada syndrome are imbalances in electrolytes (chemicals that help transmit electrical signals through your body), the effects of certain prescription medications, cocaine use and a structural abnormality in your heart.

There are risk factors that may increase your likelihood of having Brugada syndrome. These include:

  • Being of the Asian race
  • Having a family history of Brugada syndrome
  • Being male
  • Fever because of the risk of fainting.

Many times Brugada syndrome does not cause any signs or symptoms that you would be aware of. There are signs and symptoms that you may experience that can be an indication of this condition. The primary indication of Brugada syndrome is an arrhythmia (abnormal heart rhythm) that is called a Brugada sign. This is not something that you can feel. It is detected by an ECG (electrocardiogram) heart test. Other signs and symptoms that you may have are:

  • Palpitations or irregular heartbeats
  • Sudden cardiac arrest (heartbeat that stops)
  • Syncope (fainting)
  • Seizures
  • Difficulty breathing

You or a loved one may have Brugada syndrome. This condition and/or complications resulting from or other conditions along with it may be the cause of your disability. It may be why you need financial assistance.

You or your loved one may intend to apply for financial help from the Social Security Administration by applying for Social Security disability benefits or disability benefits. Have you already done this and been denied?

If you or your loved one decides to appeal the denial by the Social Security Administration, here is something you need to be aware of. People who are represented by a disability attorney like the one you will find at Social Security Home are approved more often than people who do not have a disability lawyer.

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