Tag Archives: Gene

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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Early-Onset Glaucoma and Receiving Social Security Disability

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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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Landouzy-Dejerine Dystrophy and Receiving Social Security Disability

Muscular dystrophy is also referred to as (MD). The term muscular dystrophy refers to a group of genetic, hereditary muscle diseases. These diseases cause progressive muscle weakness in the muscles that enable your body to move.

If you have muscular dystrophy, you have incorrect or missing information in your genes. Because of this, the proteins that are needed for healthy muscles are not made. Muscular dystrophy is a disease that you are born with (congenital). You cannot catch it from someone else.

Muscular dystrophy causes your muscles to weaken over time. You may gradually lose your ability to do things that are taken for granted by most people. These are things like sitting up or walking. The problems caused by muscular dystrophy can start anywhere from infancy to adulthood.

There are several different kinds of muscular dystrophy that affect different muscle groups in different ways. Landouzy-Dejerine dystrophy is one of the forms of this disease.

Landouzy-Dejerine dystrophy is evidenced by progressive muscle weakness and wasting (loss of muscle tissue). This usually originates in childhood or by the age of 20. However, these signs and symptoms may not be revealed until later in life or not at all. The signs and symptoms of Landouzy-Dejerine dystrophy usually progress very slowly.

Not much was known about what causes any form of muscular dystrophy until the 1980s. Then, researchers discovered that it is caused by a defective (faulty) gene. There is an insufficient amount of dystrophin that is produced because of this faulty gene. Dystrophin is a protein that helps keep your muscle cells intact.

When it starts, Landouzy-Dejerine dystrophy affects the muscles around your lower legs, upper arms, shoulders, mouth and eyes. Later, you may experience weakness in your abdominal muscles and sometimes your hip muscles.

There are other signs and symptoms that you may have with Landouzy-Dejerine dystrophy. Some of these are:

  • Shoulder deformities
  • Problems with pronouncing words
  • Angry or depressed facial expression
  • An inability to whistle
  • Decreased facial expression
  • Abnormal heart rhythms
  • Difficulty walking
  • Drooping of your eyelids
  • Hearing loss
  • Difficulty raising your arms.

You or a loved one may be afflicted with Landouzy-Dejerine dystrophy. Landouzy-Dejerine dystrophy and/or complications that have been caused by it or other disorders that you have besides this disease may have led to the disability of you or your loved one and be what is keeping you from being able to work.

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Fragile X Syndrome and Receiving Social Security Disability

Fragile X syndrome is the most common form of inherited mental impairment. There is a problem with a specific gene that causes the disease. This gene is called the FMR 1 gene. Normally, this gene makes a protein that you need for brain development. The problem is this mutation causes a person to make little or none of the protein. This is what results in fragile X syndrome.

The impairment caused by fragile X syndrome can range from learning disabilities to more serious intellectual or cognitive disabilities. This is sometimes referred to as mental retardation. Fragile X syndrome is also the most common known cause of autism or “autistio-like” behaviors.

Geneticist Herbert Lubs first identified fragile X syndrome. He first observed the chromosomal defect that is responsible for the syndrome in 1969.

Fragile X syndrome affects about 1 in 4,000 males and 1 in 8,000 females in the United States. It is evidenced in all racial and ethnic groups.

Children and adults with Fragile X syndrome may be affected in many different ways.  Males tend to be more severely affected than females. Some of these ways are:

  • Some degree of mental impairment (mental retardation) or learning disabilities
  • Autistic-like behaviors like hand biting and hand flapping
  • Mood and anxiety problems
  • Behavioral problems like frequent tantrums and difficulties paying attention
  • Speech problems
  • Sensitivity to sounds, light, textures and touch
  • Delays in learning how to talk, sit and walk
  • Subtle physical features that sometimes include a high arched palate, flat feet, large ears, a long narrow face and overly flexible joints (especially the fingers)
  • Males tend to develop enlarged testicles after puberty.

Girls with fragile X syndrome generally have fewer physical signs of the disorder than males. However, some girls have large ears. Only about one-third to one-half of affected girls have mental retardation or learning disabilities. Although, some affected girls with normal intelligence have learning disabilities involving attention difficulties, math, emotional problems (such as shyness, depression and anxiety) and poor social skills.

Most boys with fragile X syndrome have serious learning disabilities or mental retardation. They tend to have social and emotional problems like aggression.

Your child with disability may have fragile X syndrome. This may be the cause of their disability.

You may have tried to get financial help for your child with disability by applying for Social Security disability benefits or disability benefits from the Social Security Administration because of the disability caused by fragile X syndrome and complications resulting from it. Was your child with disability denied?

If you decide to appeal the denial by the Social Security Administration, keep this in mind. People who are represented by a disability attorney like the one you will find at disabilitycasereview.com are approved more often than those people who do not have a lawyer.