Category Archives: Genitourinary

Hepatolenticular Degeneration Syndrome and Disability

Hepatolenticular degeneration syndrome is an hereditary disorder that does not permit your body to get rid of extra copper. Hepatolenticular degeneration syndrome is evidenced by too much copper accumulating in your liver, brain, eyes, and other vital organs.

An excess of copper is poisonous. Over time, high levels of copper may result in life-threatening organ damage.

You get copper by absorbing it from the food that you eat. Excess copper is excreted through bile. Bile is a digestive fluid produced by your liver.

With hepatolenticular degeneration syndrome, excess copper is not eliminated like it ought to be. Instead, it accumulates to what can become a life-threatening level.

How does Hepatolenticular Degeneration Syndrome Happen?

Hepatolenticular degeneration syndrome develops from a genetic mutation of chromosome 13 that affects ATP7B. This is a protein that helps transport copper into your bile. ATP7B is also involved in incorporating copper into ceruloplasmin, which is a protein that takes copper through your bloodstream.

The mutations in the ATP7B gene result in copper not being eliminated from your body as it should be. Instead, it builds up in your liver where it may bring about severe and sometimes irreversible damage. As time passes, the excess copper spills out of your liver and begins to accumulate in and hurt other organs, especially your joints, kidneys, eyes and brain.

While ATP7B defects may occur spontaneously, most often they are handed down from one generation to the next. Hepatolenticular degeneration syndrome is inherited as an autosomal recessive trait. This means that you have to inherit the mutated gene from both of your parents in order to have this syndrome. You are regarded as a carrier of the syndrome if you only inherit one abnormal gene. You may then pass the mutated gene on to your children.

Hepatolenticular degeneration syndrome may appear in a variety of ways. However, you may have it for several years before you notice any signs or symptoms.

The signs and symptoms produced by hepatolenticular degeneration syndrome usually begin when you are between the ages of 6 and 20. However, they may begin as late as the age of 40.

The signs and symptoms that you have with hepatolenticular degeneration syndrome will depend on where the copper build up occurs in your body. When copper builds up in your liver, you may have signs and symptoms that are similar to chronic liver disease. Some of these are:

  • Ÿ  Fluid accumulation in your abdomen or legs
  • Ÿ  A tendency to bruise easily
  • Ÿ  Jaundice (yellowing of your skin and the whites of your eyes)
  • Ÿ  Swelling of your spleen or liver
  • Ÿ  Fatigue.

Copper accumulating in your central nervous system may cause neurological effects. These may include:

  • Ÿ  Problems with physical coordination, swallowing or speech
  • Ÿ  Changes in your behavior
  • Ÿ  Muscle stiffness
  • Ÿ  Uncontrolled movement or tremors.

Other signs and symptoms of hepatolenticular degeneration syndrome may occur including:

  • Ÿ  Slower clotting of your blood
  • Ÿ  A low platelet count or white blood cell count
  • Ÿ  Premature arthritis and osteoporosis
  • Ÿ  High levels of protein and carbohydrates, uric acid and amino acids in your urine
  • Ÿ  Anemia.

Benefits for the Metabolic Forbes Disease

Forbes disease is a form of glycogen storage disease. This means that Forbes disease is an autosomal recessive metabolic disease. It is an inborn error of metabolism. Forbes disease is evidenced by a deficiency in glycogen debranching enzymes.

Forbes disease is a genetically linked metabolic disease that has to do with the enzymes regulating glycogen metabolism. This is similar to the other glycogen storage diseases. These enzymes play a part in the synthesis or processing of glycogen breakdown inside of your ahaha muscles, liver and other cell types.

Each one of the steps in the process of glycogen breakdown is determined by a different enzyme. If any one of these enzymes is defective, the process is halted and its step in the process is not completed. The kind of glycogen storage disease that you have depends on which one of the enzymes is faulty and does not complete its step in the process.

Fortunately, Forbes disease is a rare disease that takes place in about 1 out of every 100,000 live births. Forbes disease is marked by a missing enzyme that causes abnormal amounts of glycogen to be placed in your heart, liver and skeletal muscles. This may stunt your growth and result in hypoglycemia, acidosis and an enlarged liver.

Forbes disease is called by other names. It is also referred to as glycogen storage disease type III, dextrinosis and Cori’s disease.

The 1947 Nobel laureates Carl Cori and Gerty Cori were the first to describe this disease. Gilbert Burnett Forbes was a clinician who additionally described features of this disease that bears his name.

The clinical course of Forbes disease is like that of glycogen storage disease type I. Forbes disease is generally, but not always, milder. Massive hepatomegaly (swelling and enlargement of your liver) usually takes place in young children. It may then diminish. Hepatomegaly may even disappear as you age. Levels of glycogen with short outer branches are raised in your muscle, liver and erythrocytes.

Forbes disease results from a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This leads to excess amounts of abnormal glycogen being placed in your liver, muscles and, in some instances, your heart. There may also be deficiency in some of your blood cells, such as erythrocytes and leukocytes. About 15% of the time, Forbes disease only affects your liver.

The glycogen molecule is not a simple straight chain of linked glucose molecules. It is an intricate network of short chains that branch off from one another. In glycogenolysis, a certain enzyme is needed to unlink the branch points. Forbes disease results from the failure of that enzyme.

There are several different signs and symptoms of Forbes disease. These include:

  • Delay of puberty
  • Low blood sugar (hypoglycemia)
  • Bones that are weakened by osteoporosis
  • Elevated levels of lipids, uric acid and lactate in your blood
  • Impairment in growth
  • An enlarged fatty liver
  • An enlarged heart
  • Muscles that are prone to wasting

Muscle wasting usually increases with age, while other signs and symptoms may improve.

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Myotonic Dystrophy Muscle Disease

Muscular dystrophy is the medical term that is used for a group of genetic (hereditary) muscle diseases. These diseases are evidenced by progressive muscle weakness in the muscles that enable your body to move.

Muscular dystrophy has to do with missing or incorrect information in your genes. With muscular dystrophy, the proteins that are needed so that you might have healthy muscles are prevented from being produced.

Muscular dystrophy is a disease that is hereditary. This means that you get it from your parents. Muscular dystrophy is not a disease that you can catch from someone who has it. It is not contagious.

As time goes by, muscular dystrophy leads to your muscles getting weaker. As a result, you may gradually lose the ability to do things that most people take for granted, such as walking or sitting up. The problems caused by muscular dystrophy may begin at any point in life, from the time you were a baby, childhood, adolescence or when you became an adult.

There are several different types of muscular dystrophy that affect different muscle groups in different ways. Myotonic dystrophy is one of the kinds of muscular dystrophy.

Myotonic dystrophy is the most common type of muscular dystrophy that originates in adulthood. Myotonic dystrophy usually takes place between the ages of 20 and 40. However, there is also an infantile type of myotonic dystrophy. In fact, this disease may start at any age from birth to old age.

It was not until the 1980s that much was known concerning what brings about any form of muscular dystrophy. Then, researchers found out that muscular dystrophy is the result of a defective gene.

Due to this defective gene, there is not a sufficient amount of a protein that is known as dystrophin that is produced. Dystrophin is a protein that works to keep your muscle cells intact.

Myotonic Dystrophy and Receiving Disability

In myotonic dystrophy, a repeated section of DNA occurs on either chromosome 3 or chromosome 19. If you are afflicted with myotonic dystrophy, you may be entitled to receive social security disability benefits, such as SSI or SSDI. You will never go wrong by going to one of the social security attorneys at The social security lawyers at can help you get the disability benefits that you qualify for.  Visit our attorney page to find an attorney near you.

The progression of myotonic dystrophy is very slow. The disease may span a period of 50 to 60 years.

The first signs and symptoms of myotonic dystrophy are usually muscle wasting (loss of muscle tissue) and generalized weakness in your face, neck, forearms, hands and lower legs. This usually takes place in conjunction with having problems relaxing your muscles after you contract them. Other signs and symptoms that you may have include:

  • Difficulty with your digestive tract, such as constipation and diarrhea
  • Frontal balding in men
  • Cataracts (clouding of the lenses of your eyes)
  • Difficulty sleeping well at night
  • Problems with swallowing and breathing
  • Daytime sleepiness
  • Fainting or dizziness
  • An inability to concentrate
  • Mild diabetes

Congenital Thymic Aplasia and Receiving Disability

Congenital thymic aplasia is a rare congenital disease. What congenital means is that it is something that is present at birth, something that you were born with.

The severity of congenital thymic aplasia and the host of difficulties that it may bring about vary widely. Congenital thymic aplasia leads to the poor development of several of your body’s systems.

One of the bad things about congenital thymic aplasia is that there are several different medical problems that are connected with this disease. Some of these medical problems include:

  • A cleft palate
  • Poor function of your immune system
  • Behavioral disorders
  • Poor function of your parathyroid glands
  • Heart defects

Pediatric endocrinologist Angelo DiGeorge was the first to describe this disease. He described it in 1968.

Congenital thymic aplasia is referred to in other ways. It is also known as Strong syndrome, thymic hypoplasia, 22q11.2 deletion syndrome, Shprintzen syndrome, velo-cardio-facial syndrome,  DiGeorge syndrome and conotruncal anomaly face syndrome.

Thankfully, congenital thymic aplasia is a rare disease. It occurs in around 1 in every 4,000 live births in the United States.

As mentioned at the beginning, congenital thymic aplasia is a disease that you are born with (congenital). The disease is the result of the deletion of a part of chromosome 22. However, the cause of this deletion has not yet been discovered.

The area of chromosome 22 that is deleted is referred to as 22q11.2. Researchers think that the wide variance in the signs and symptoms that congenital thymic aplasia produces in people is a result of the amount of genetic material that is lost in the chromosomal 22 deletion.

The signs and symptoms that are the result of congenital thymic aplasia may vary greatly both in their type and in their severity. The significant thing about this is that this is true even in the case of members of the same family who are afflicted with congenital thymic aplasia.

If you are experiencing sign and symptoms of congenital thymic aplasia, you may qualify for social security disability benefits like SSI or SSDI. It is always a wise move to contact one of the experienced social security attorneys at to checkout the disability benefits options that are open to you. Possible signs and symptoms that you may experience with congenital thymic aplasia may involve some combination of these things:

  • A cleft palate (a gap in the roof of the mouth) or other problems with your palate
  • Spasms or twitching around your mouth, throat, hands or arms
  • Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in your upper lip
  • Poor muscle tone
  • Delay in the development of your speech
  • A bluish appearance of your skin that results from the poor circulation of oxygen-rich blood
  • Delays or difficulties with learning
  • Infections that occur frequently
  • Failure to thrive
  • Weakness or getting tired easily
  • Failure to gain weight
  • Shortness of breath
  • Congenital heart disease
  • Renal (kidney) anomalies
  • Autoimmune disorders
  • Hypocalcaemia (low serum calcium levels in your blood)

Inflammatory Fibrous Hyperplasia and Getting SSI or SSDI

Inflammatory fibrous hyperplasia is a chronic (continuing, ongoing) bone disease that is evidenced by a part of your bone developing abnormally. Scar-like (fibrous) tissue starts to replace and take the position of normal bone tissue. With the growth of your bone, the softer fibrous tissue keeps expanding, which leads to your bone becoming weakened by this process.

Deformity may occur in your bone that is infected by inflammatory fibrous hyperplasia. If deformity does develop, it will then increase the possibility of a fracture (break) occurring in your bone that has been affected. Do you have a severe case of inflammatory fibrous hyperplasia. If this is the case, you may be eligible to receive some form of social security disability benefits like SSI or SSDI. A smart move on your part would be to get in touch with one of the social security attorneys at to check this out. The social security attorneys at stand ready to assist you in obtaining all of the disability benefits that are rightfully yours.

Inflammatory fibrous hyperplasia is believed to begin before you are born. However, you may not realize that you are affected by inflammatory fibrous hyperplasia until you reach childhood, adolescence or adulthood.

About 7% of all benign bone tumors are due to this type of  hyperplasia. Your upper arm bone, skull, thighbone, shinbone and pelvis are the areas of your body where the disease occurs most often, but inflammatory fibrous hyperplasia may take place in any bone in your body.

In most cases, inflammatory fibrous hyperplasia involves only one of your bones. In these instances, it is known as monostotic inflammatory fibrous hyperplasia. When the disease affects two or more of your bones, it is called polystotic inflammatory fibrous hyperplasia. This form of the disease may affect two of your bones in the same limb or  several bones throughout your skeleton.

Men and women are affected equally by this. It also seems to affect all races equally.

Inflammatory fibrous hyperplasia is caused by a faulty (mutated) gene that has to do with your cells that produce bone. However, what causes this gene to become faulty is unknown.

What science does know is that inflammatory fibrous hyperplasia is neither inherited or passed down from parent to child. There are also no known environmental or dietary factors that lead to inflammatory fibrous hyperplasia.

Inflammatory fibrous hyperplasia is a disease that has no known cause. It develops spontaneously. This means that it does not result from another condition nor is it related to another disorder.

You might not have any signs and symptoms at all if your inflammatory fibrous hyperplasia is mild. If the disease is severe, however, you may experience several signs and symptoms. Some of these are:

  • Bone deformities
  • Problems with being able to walk
  • Bone sores (lesions)
  • Bone pain that grows worse with any type of activity but gets better when you rest
  • Pigmentation (an unusual skin color)
  • Bone fractures (breaks)
  • Problems with your endocrine gland
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Mesoectodermal Dysplasia Dwarfism and Getting Disability

Mesoectodermal Dysplasia Dwarfism

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What is Mesoectodermal dysplasia?

Mesoectodermal dysplasia is a rare genetic (inherited) condition that is marked by  ectodermal dysplasia (abnormal development of nails, teeth, skin, hair and sweat glands), a high frequency of congenital (present at birth) heart defects and postaxial polydactyly (duplication of the small finger).  Mesoectodermal dysplasia is a condition of dwarfism that may qualify you for SSI or SSDI disability benefits.

Mesoectodermal dysplasia is characterized by disproportionate dwarfism (extremely short stature). It is also evidenced by abnormalities of your nails and hair, especially short forearms and lower legs, extra toes and/or fingers and a small narrow chest with short ribs. Do you have mesoectodermal dysplasia? Dwarfism?  If so, you may be entitled to social security disability benefits like SSI or SSDI. The way to find out is by checking with one of the social security attorneys at The social security attorneys at will advise you in regard to receiving disability benefits. Do not delay. Contact one of the social security attorneys at, at your earliest convenience.

Mesoectodermal dysplasia is referred to in other ways. It is also known as  chondroectodermal dysplasia and Ellis-van Creveld syndrome.

Mesoectodermal dysplasia is often the result of something that is referred to as “founder effects.” In population genetics, founder effects is a term that is used in reference to the loss of genetic variation, like dwarfism, that may take place when a new population is established by an extremely small number of people from a larger population. Some small island populations and the Amish are examples of founder effects.

Thankfully, mesoectodermal dysplasia is a relatively rare condition. However, the condition does occur with a higher rate of incidence inside of founder-effect populations. Again, this is due to a lack of genetic variability.

Mesoectodermal dysplasia is an inherited condition. This means that the condition is passed down from parent to child by way of a defective (faulty) gene.

The pattern in which mesoectodermal dysplasia is inherited is what is known as autosomal recessive. This means that both of your parents have to have the faulty gene in order for you to inherit this condition.

The signs and symptoms that are produced by mesoectodermal dysplasia are not the same in every person who is afflicted with the condition. In addition, the severity of mesoectodermal dysplasia varies greatly from person to person.

Signs and Symptoms of mesoectodermal dysplasia

There are several different signs and symptoms that may take place with mesoectodermal dysplasia. Some of these are:

  • Short arms and legs, especially your forearms and lower legs
  • Heart defects, such as a hole in your heart (atrial septal defect)
  • Short stature such as dwarfism that usually ranges anywhere from 31/2 to 5 feet tall
  • Your urethra does not develop into a full tube and urine goes out of your body from an abnormal location as a result (epispadias)
  • Tooth abnormalities that may include peg teeth and/or natal teeth (teeth that are present at birth), widely spaced teeth and delayed or missing teeth
  • Nail difficulties that may include missing or deformed nails
  • A cleft palate or lip
  • Polydactyly (extra fingers)
  • Undescended testicle (cryptorchidism)
  • Sparse, absent or fine textured hair
  • A limited range of motion.
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Osler’s Disease and Receiving Social Security Disability Benefits

Osler’s disease is a disease that is characterized by the formation of multiple abnormalities in your blood vessels (veins and arteries). These abnormal blood vessels may occur in places like your mucous membranes, skin and often times in organs like your brain, lungs and liver.

When your circulatory system is working like it ought to, blood that is transporting oxygen is pumped by your heart out of your lungs at high pressure into your arteries. By the time this blood reaches your capillaries and then flows into your veins, the pressure has gotten much lower.

If you are suffering from Osler‘s disease, some of your arteries go directly into your veins rather than being buffered by your capillaries. The high pressure has a tendency to strain and enlarge your veins due to the fact that they are not as elastic and have thinner walls than your arteries do. This may bring about compression or irritation of your adjacent tissues and frequent episodes of severe bleeding (hemorrhage).

There are different kinds of Osler‘s disease. These include type 1, type 2 and type 3. There is a higher risk for blood vessel malformations in your lungs and brain when you are afflicted with type 1 of Osler‘s disease. You are at a greater risk for malformations in your liver if you are suffering from type 2 or type 3. Women are affected by blood vessel malformations in their liver and lungs with both type 1 and type 2 more often than men are.

Osler’s disease is known by other names. It is also referred to as hereditary hemorrhagic telangiectasia and Osler-Weber-Rendu disease.

Osler’s disease is brought about by a missing or mutated (defective) gene. Researchers have been able to identify some of the genes that are responsible for leading to Osler‘s disease, but they have not yet discovered the way in which these gene defects result in these blood vessel malformations.

Osler’s disease is a disease that is passed down to you by your parents. The pattern of inheritance is what is known as autosomal dominant. What this means is that you only have to inherit a defective (mutated) gene from one of your parents in order to have the possibility of getting Osler‘s disease.

There are several different signs and symptoms that you may experience, which may be an indication of Osler‘s disease. Some of these are:

  • Black, tar-like stools
  • Unexplained, small strokes
  • Vomiting, coughing up blood
  • Dizziness, drowsiness
  • Frequent, sudden nosebleeds
  • Breathing problems, blue lips, domed fingernails (drumstick fingers)
  • Occasional paralysis
  • Fatigue
  • A pale appearance
  • Seizures (epilepsy)
  • Brain aneurysms
  • Shortness of breath when exercising
  • Lesions in your mouth and on your skin that may bleed
  • Digestive tract lesions

If you are having signs and symptoms of Osler’s disease, you may be able to get social security disability benefits. Contact the social security attorneys at The social security attorneys at will be on your side when it comes to getting disability benefits from the Social Security Administration.

Cerebellar Ectopia and Receiving Social Security Disability Benefits

Cerebellar Ectopia

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Cerebellar ectopia is a brain condition where there are abnormalities to your cerebellum. This is the lower part of your brain.

Cerebellar ectopia is marked by the lobes at the base of your cerebellum pushing through the hole at the base of your skull. These lobes are referred to as the cerebral tonsils.

The hole at the base of your skull is known as the foramen magnum. The foramen magnum is the hole through which your spinal cord passes so that it can connect to your brain. It does this by merging with the lowermost section of your brain, which is the medulla oblongata.

When your cerebellar tonsils protrude through (herniate) your foramen magnum, you may have various medical problems and complications. These will vary in their severity. The thing that determines the severity is the extent of your protrusion.

When the extent of the protrusion is severe the condition is known as a Chiari malformation. This condition is named after Professor Hans Chiari, a German pathologist. He first described this malformation in the 1890’s.

When the extent of the protrusion does not meet the guidelines for a diagnosis of being a Chiari malformation, the condition is referred to as cerebellar ectopia. Even though cerebellar ectopia is not as serious as a Chiari malformation, it can still result in problems and complications that may lead to your disability and not being able to work.

Cerebellar ectopia is caused by the area of your skull that holds your cerebellum being too small or deformed. When this is true, it presses and crowds your brain. It forces your brain downward.

Cerebellar ectopia is a congenital birth defect. What this means is that it was present when you were born.

What causes this birth defect to occur has not yet been discovered. Researchers have theorized that a problem that takes place during development in the womb may be what causes the malformation to develop in your brain.

In some instances of cerebellar ectopia, you may not have any signs and symptoms of the condition until you reach adulthood. In other cases, you may have neurological difficulties that begin in your infancy. As time passes, these problems may become more visible and apparent.

The signs and symptoms that you experience with cerebellar ectopia may vary from person to person. These signs and symptoms may become worse with the passage of time as a result of buildups of pressure.

There are several different signs and symptoms that you may have with cerebellar ectopia. Some of these include:

Ÿ  Poor hand coordination

Ÿ  Stiffness or pain that occurs in the back of your neck or head

Ÿ  Dizziness

Ÿ  A decrease in the strength of your arms

Ÿ  Numbness and tingling that takes place in your hands and feet

Ÿ  Rapid eye movements that go back and forth

Ÿ  Difficulties with your balance

Ÿ  A double or blurred vision

Ÿ  Problems with your breathing

Ÿ  Delays that occur in your development

Ÿ  A slurring of your speech

Ÿ  Headaches

Ÿ  A decrease in sensation in your arms and legs.

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Chronic Vesicoureteric Reflux and Receiving Social Security Disability

Chronic vesicoureteric reflux is an ailment that is characterized by the backward flow of urine into your kidney. This leads to damage to your kidneys.

Urine flows out of your kidneys by way of your ureters and into your bladder. Each one of your ureters has a one-way valve at the point where urine goes into your bladder. The purpose of this one-way valve is to keep urine from flowing back up through your ureter and into your kidney.

Chronic vesicoureteric reflux takes place when these valves do not function the way that they should. Urine is then permitted to flow back up into your kidney when this occurs. If your bladder is infected or your urine contains bacteria, your kidney is placed at risk for getting pyelonephritis (infection).

What the reflux of urine does is expose your kidney to unusually high pressure. The reason for this is because the pressure in your bladder is usually higher than the pressure in your kidney. With the passage of time, this increased pressure results in scarring (focal segmental glomerulosclerosis) and damage to your kidney.

Chronic vesicoureteric reflux is known by other names. It is also referred to as chronic atrophic pyelonephritis, reflux nephropathy, nephropathy – reflux and ureteral reflux.

It is estimated that about 4 out of every 1,000 people in the United States have chronic vesicoureteric reflux without having any signs or symptoms at all. Up to 50% of infants and children in the United States who have urinary tract infections, also have chronic vesicoureteric reflux.

Chronic vesicoureteric reflux may develop in people whose valves of their ureters do not function right or whose ureters do not attach the way that they should to their bladder. This can be the result of a birth defect.

There are other conditions that may lead to chronic vesicoureteric reflux. These include:

Ÿ  Neurogenic bladder

Ÿ  Bladder outlet obstruction

Ÿ  Bladder stones.


Chronic vesicoureteric reflux may also be caused by swelling of your ureters that takes place after some kind of trauma to your ureter or a kidney transplant.

As mentioned earlier, you may not experience any signs or symptoms with chronic vesicoureteric reflux. You also may not have any signs or symptoms if only one of your kidneys is affected by this ailment.

If you do have signs and symptoms with chronic vesicoureteric reflux, they may be like the signs and symptoms of a urinary tract infection, chronic kidney failure or nephrotic syndrome. Some of the possible signs and symptoms that you may have are:

Ÿ  Increased urination at night (nocturia)

Ÿ  The feeling that your bladder in not fully emptying when you urinate

Ÿ  Stinging or burning with urination

Ÿ  Repeated urinary tract infections in a female

Ÿ  A single urinary tract infection in a male

Ÿ  Urinal frequency/urgency

Ÿ  Dark or foamy urine

Ÿ  Blood in your urine (hematuria)

Ÿ  Back pain, abdominal pain or flank pain.

There are other possible signs and symptoms that you may experience with this ailment. These include:

Ÿ  Chills

Ÿ  Urinary hesitancy

Ÿ  Vomiting and nausea

Ÿ  Fever

Ÿ  Nail abnormalities.

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Barbeau’s Disease and Receiving Social Security Disability

Muscular dystrophy is a term that is used to designate a group of hereditary, genetic muscle diseases. These diseases lead to progressive muscle weakness in the muscles that enable you to move.

Muscular dystrophy means that you have missing or incorrect information in your genes. There are certain proteins that you need in order to have healthy muscles. Muscular dystrophy keeps these proteins from being produced. Muscular dystrophy is something that you inherit from your parents. It is not contagious. You cannot “catch it” from someone who has it.

Muscular dystrophy causes your muscles to get weak over time. People who are afflicted with muscular dystrophy may gradually lose the ability to do things that most of us take for granted like walking or sitting up. These problems that are caused by muscular dystrophy can begin at birth or shortly after. However, they can also take place later on in childhood, adolescence or adulthood.

There are several different forms of muscular dystrophy that affect different muscle groups in different ways. Barbeau’s disease is one of the kinds of muscular dystrophy.

Barbeau’s disease is usually an adult form of the disease. The onset of Barbeau’s disease is usually when you are in your 40s or 50s. It can even occur up to around the age of 70.

Little was known about what causes any kind of muscular dystrophy until the 1980s. Then, researchers found out that it is caused by a mutated (defective) gene. There is an insufficient amount of dystrophin because of the defective gene. Dystrophin is a protein that aids in keeping your muscle cells intact. In the case of Barbeau’s disease, there is a faulty gene that is believed to make extra chemical material that causes the development of clumps in your muscle cells.

Barbeau’s disease progresses slowly. The first sign or symptom of Barbeau’s disease is usually muscle weakness of your throat and eyelids. You may have difficulty swallowing. Your may have trouble keeping your eyes open or with drooping eyelids.

As Barbeau’s disease advances, you may have other signs and symptoms. Some of these include:

  • Characteristic face
  • Progressive muscle weakness in your limbs
  • Progressive weakness in your facial muscles
  • Progressive ptosis (drooping of your eyelids)
  • Weakness and wasting (loss of muscle tissue) of your tongue.


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