ipl-logo

Essay On Spinal Muscular Atrophy

440 Words2 Pages

Spinal muscular atrophy, (Also known as SMA) is a genetic disease that affects voluntary muscle movement. Spinal Muscular Atrophy is caused by the mutation of the 5th chromosome. SMA usually affects the proximal muscles, such as shoulders, thighs, hips and upper back. This worsens over time. There are four types of Spinal Muscular Atrophy: Type one is the most common and severe and effects the baby while it is still inside the womb. This can result in the baby having a spall throat, because the spine bends inward. The spine could also crush the baby’s lung(s). Type two is a little less severe, because the baby isn’t effected until it is born. Type two usually affects babies ranging from 2 months all the way to adolescents. Type three is mild; but still worsens over time. This would usually allow the person …show more content…

In 1995, the cause for spinal muscular atrophy was found. A gene termed ‘the survival motor neuron’ (Also known as SMN), was discovered. Each individual has 2 SMN genes, known as SMN1 and SMN2. Over 95% of patients with spinal muscular atrophy have a disruption in the SMN1 gene on chromosome 5, caused by mutation, deletion, or rearrangement.” For one to have SMA, both parents have to be carriers. Most people have two copies of their SMN1 gene, a carrier is someone with one working SMN1 gene and a faulty gene. For someone’s child to have SMA, both parents need to be carriers. “There is a 25% chance that their child will be unaffected, a 50% chance that their child will be a carrier and a 25% chance that their child will have SMA” One in fifty people are carriers. SMA can cause severe respiratory problems. The intercostal muscles, the muscles we use to breathe, are very weak. There can be an increased chance to get respiratory diseases such as influenza, pneumonia, and the common

Show More
Related

Duchenne Muscular Dystrophy Research Paper

462 Words | 2 Pages

The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4).

Read More

Amyotrophic Lateral Sclerosis: Lou Gehrig's Disease

2089 Words | 9 Pages

Breaking down the disease “amyotrophic lateral sclerosis” word for word can help you understand how this disease affects someone. The word “Amyotrophic” comes from the Greek language. “A” means no, “myo” refers to the muscles, and “Trophic” means nourishment. This translates to “No muscle nourishment.” When a muscle has no nourishment it wastes away and cannot be used.

Read More

Marshall Influenza Case Study

728 Words | 3 Pages

Because they also encourage mucous secretions, macrophage activity on pneumococci is decreased while bacterial adhesion to the epithelium is increased. Pneumonia is a condition that aggravates the air sacs in one or both lungs. The air sacs may fill with fluid or pus causing cough with phlegm or pus, fever, chills, and difficulty breathing. Cyanosis occurs as a result of the decrease in gas exchange through the inflamed alveolar membrane and subsequent decline in hemoglobin saturation. One of the most common complications of the flu is a bacterial infection.

Read More

Summary Of Shane Burcaw's Laughing At My Nightmare

589 Words | 3 Pages

One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the

Read More

Noonan Syndrome Research Paper

733 Words | 3 Pages

Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan.

Read More

Lou Gehrig's Disease: Amyotrophic Lateral Sclerosis

1426 Words | 6 Pages

Amyotrophic lateral sclerosis is a degenerative neuromuscular disorder that affects the motor neurons of the spinal cord and brain. Due to degeneration or destruction of the motor neurons, muscles throughout the body begin to become weak and waste away to the point that an individual has no muscle movement. In most cases, due to having muscle strength, a patient with ALS will succumb to their disease because of respiratory failure or dehydration and malnutrition. It is a progressive disease with a prognosis of 3 to 5 years after initial diagnosis. There is no cure for the disease as of now.

Read More

Duchenne Muscular Dystrophy Research Paper

927 Words | 4 Pages

Duchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve

Read More

Myasthenia Gravis

803 Words | 4 Pages

Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal muscles of the body. It occurs when communication between nerve cells and muscles becomes impaired. This impairment prevents crucial muscle contractions from occurring, resulting in muscle weakness. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. Acetylcholine travels from the neuromuscular junction and binds to acetylcholine receptors which are activated and generate a muscle contraction.

Read More

Discuss The Trust Of The Innocent Is The Liar's Most Useful Tool By Stephen King

272 Words | 2 Pages

“The trust of the innocent is the liar's most useful tool” by Stephen King the fresh quotes. The conflicts that charlotte faces in the book True Confessions Of Charlotte Doyelsupport the theme be careful in who you trust. One example of being careful who you trust is When Zechariah gave Charlotte the dirk and tells her she will need it on pg. 25.

Read More

Rett's Syndrome Research Paper

1299 Words | 6 Pages

Rett’s Syndrome Kelsey Leroux Child Development CYC 101 Lenore Simbulan October 14, 2016 Rett’s Syndrome Rett’s syndrome is defined by the Ontario Rett’s Syndrome Association (ORSA) as “a neurodevelopmental condition characterized by the loss of the spoken language and hand use, coupled with the development of distinctive hand stereotypies… It is usually caused by a mutation of the MECP2 gene on the x chromosome” (2016). Rett’s syndrome is considered by medical experts as a rare genetic neurological and developmental disorder that affects the way the brain develops causing a progressive inability to use muscles for speech, and eye and body movements. Most babies seem to develop normally until about six to eighteen months old. Rett’s

Read More

Cystic Fibrosis

706 Words | 3 Pages

Cystic Fibrosis is caused by a mutated gene that changes the protein that controls the salt in and out of the cell. There are many different mutation which can change the severity of the disease in each case. For this to be passed on a child must receive one copy of the gene from each parent to develop this disease. If a child receives a copy from only one parent then

Read More

Myasthenia Gravis Research Paper

1075 Words | 5 Pages

The risk to pass the defective gene and have affected child from two carrier parents is 25% with each pregnancy while the chance for having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and

Read More

Essay On Muscle Contraction

1506 Words | 7 Pages

Almost half of a human 's body weight is composed of muscle. There are three distinct types of muscle tissue: cardiac muscle, skeletal muscle, and smooth muscle. Each of the muscle tissues have different structures, properties, characteristics, and roles in our body. Properties of muscle tissues include excitability, contractility, extensibility, and elasticity. Contractility is the ability to shorten, which causes movement of the structures to which the muscles are attached.

Read More

The Pro-Life As A Measure Of Abortion

113 Words | 1 Pages

An abortion is the outcome of a pregnancy in which an embryo or a fetus is removed in various medical ways and one example is the suction aspiration. The pro-choice label, is to have the power and control of your own body. In other words, it is about having the final decision of the future of one’s unborn child. The pro-life or right-to-life label, is resumed as the opposition of the murder of unborn babies. In another way, pro-life is the belief of the protection of the human rights of an undeveloped human.

Read More

An Essay On The Muscular System

723 Words | 3 Pages

The muscular system might be the most important system in the whole entire body. This system helps us digest food and keeps our heart and lungs moving. In the body there are two different types of muscles: the voluntary and involuntary. The muscular system helps you move because it helps your joints move which helps your bones bend. All of the major organs in this system are the heart, the lungs, and the digestive tracks.

Read More

More about Essay On Spinal Muscular Atrophy

Related Topics

Open Document