Dm1 Research Paper

Dm1 Research Paper
Myotonic Dystrophy Type I, also known as Steinert's disease or Dystrophia Myotonica (abbreviated DM1) is the most common form of muscular
dystrophy. Hans Steinert was the first to describe the disease in 1909 when he noted atrophy of multiple muscles in patients with myotonia(Steinberg
and Wagner 2008). Batten and Gibb of Britain also described wasting of stenomastoids, vastus internus and forearm muscles as well as difficulty
releasing grasp in their 1909 paper (Batten and Gibb 1909). Fleischer in his genealogical examination was first to note that the gene does not cause
disease in the first generation. This is followed by occurrence of more symptoms in the succeeding generations, starting with senile cataracts, presenile
cataracts and finally muscular atrophy (Harper, Harley et al. 1992). Patients with DM1 have muscle wasting and muscle weakness. Their muscles have
fatty degeneration and decrease in contractile ... Show more content on Helpwriting.net ...
Treatments have traditionally been target at specific symptoms that are present. Mexilentine has been shown to be effective in treating myotonia in
patients with DM1 and is well tolerated with no serious complications(Logigian, Martens et al. 2010). Implantation of a pacemaker in patients with HV
interval > 70 ms even when asymptomatics seems to be protective against sudden death due to arrthymia such as atrioventricular block(Lazarus, Varin
et al. 2002). The cure for DM1 ultimately lies in targeting the underlying molecular causes. Antisense oligonucleatide have been synthesized against the
mutant DMPK allele. PS58, a 2'–O–methyl phosphorothioate modified (CAG) 7 oligo has been shown to be effective in selectively reducing the
level of the expanded CTG DMPK allele (with little effect on the normal allele) in vitro in myocytes derived from DM1 patients and in vivo in DM1
model mice(Mulders, van den Broek et al. 2009). The further development of these ASO to eventual clinical trials will hopefully lead to cure for
... Get more on HelpWriting.net ...

Muscular Dystrophy Research Paper
An Overview of Muscular Dystrophy
For decades, muscular dystrophy has been associated with Jerry's kids. That is, Jerry Lewis surrounded by children during the annual Muscular
Dystrophy Association's Labor Day Telethon. From 1966 to 2010, Jerry Lewis hosted this annual telethon to benefit those withmuscular dystrophy.
Muscular dystrophy (MD) represents a group of nine inherited muscle disorders. The telethon went on without Lewis from 2010 to 2014, ultimately
ending in 2015.
Even though the annual telethon is over, muscular dystrophy–all nine forms–still exists. MD presents with a combination of muscle weakness and
muscle wasting.
Symptoms
The characteristic symptom throughout all types of muscular dystrophy is progressive muscle weakness, ... Show more content on Helpwriting.net ...
The types of surgeries can include an insertion of a pacemaker when heart problems are present, surgery to improve spinal alignment when a curvature
of the spine (scoliosis) interferes with breathing, and surgery to remove cataracts from the eyes and improve vision.
A Word From Verywell
Receiving a diagnosis of MD can be incredibly overwhelming. Although there's currently no cure for MD, the medical community has made great
strides in understanding the illness and improving the life expectancy and quality of life of those living with it. Whether you or a loved one have been
diagnosed with MD (or you just want to learn more about it), arm yourself with as much information as possible so that you can make decisions that
are right for you and your family's healthcare.
Sources:
Full List of Muscular Diseases. Muscular Dystrophy Association website. https://www.mda.org/diseaseula
How is muscular dystrophy diagnosed? National Institute of Health website. https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo
/diagnosed
June Capossela Kempf. "The muscular dystrophy telethon now just a memory." Newsday, 6 Sept. 2015.
Muscular Dystrophy. Cleveland Clinic website.

Muscular Dystrophy Research Paper
Muscular Dystrophy and Its Effect on the Body System Muscular Dystrophy also known as MD, is made up of a group of genetic diseases where
muscle fibers are unusually susceptible to damage and the damaged muscles become progressively weak. Muscular Dystrophy is caused by certain
defects with a specific type of gene known as the abnormal gene. Majority of muscular dystrophies come from an inherited disease referred to as
X–linked disorders or genetic diseases in which mothers can transmit to their sons, even if the mother is not affected by the disease. There are nine
different forms of muscular dystrophy and in some of these forms the heart and organs can or may be also affected. These are the nine muscular
dystrophy forms (www.webmd.com): ... Show more content on Helpwriting.net ...
Duchenne muscular dystrophy was the first form of MD that was reported by Gaetano Conte in 1836 and then by Meryon later in 1851. It wasn't until
the year 1868 that Duchenne described the condition commemorating his name (www.neurologyindia.com). In the late nineteenth century and early
twentieth century there had been some effort made towards finding the difference between the primary and secondary myopathies. It was then that they
discovered that this muscular disorder was primarily in the muscles itself and that the atrophy may have been secondary and neurogenic in origin. The
confusion between the two had persisted further in to the twentieth century. In the 1970's and 1980's, neurologists further tested the waters for
Duchenne muscular dystrophy, and its neurogenic theory. With the advent of DNA analysis in the past few decades there had finally been a clear
distinction that could possibly be made with each individual who became a carrier of Duchenne muscular dystrophy, also referred to as DMD. During
the later years of the nineteenth century and twentieth century there had been numerous attempts to identify and explain the origins and pathogenesis
of muscular dystrophy but none were

Myotonic Dystrophy : A Disorder That Affects Multiple Systems
Introduction
Myotonic dystrophy (DM) is a disorder that affects multiple systems in the body. The disease is broken down into two categories, myotonic dystrophy
I & II. Myotonic dystrophy can be responsible for deterioration of smooth and skeletal muscle, central nervous system, endocrine, cardiac, and ocular
systems. Myotonic dystrophy can contrast from mild to severe, and has "been categorized into three somewhat overlapping phenotypes: mild, classic,
and congenital" (Bird et al., 1999). Myotonic dystrophy is a multisystem disease damaging to the muscles, heart, brain, eyes and other organs. Myotonia
is defined by the stiffness and tightness of the muscles causing some muscles to stay in the contracted position much longer than ... Show more content
on Helpwriting.net ...
With an abnormal number of repeats the trinucleotide sequence becomes more unstable and disease symptoms grow to be more visible. Myotonic
dystrophy II (DM2) is a mutation of cellular nucleic acid binding protein (CNBP), or zinc finger protein 9. The functions of both proteins, CNBP
and DMPK are uncertain, however they can be found in multiple organs and tissues in the body, including the brain, cardiac, and skeletal muscles
(Ueada, Ohno & Kobayashi, 2000). Myotonic dystrophy is located on chromosome 19q13.3 and is a result of an abnormal repeat of the DNA
sequence. According to Mckusick & Hartz (1986) People with DM2 can have from 75 to more than 11,000 CCTG repeats. Both DM1 and DM2 are
autosomal dominant inheritable disease, which can be passed along to offspring if the parent is affected, at a 50% probability. Myotonic dystrophy is
unique from most provided that "disease–causing alleles may expand in length during gametogenesis, resulting in the transmission of longer
trinucleotide repeat alleles that may be associated with earlier onset and more severe disease than that observed in the parent" (Bird et al., 1999).
Anatomical
Myotonia is developed by the over expanded trinucleotide creating a toxic mutant RNA sequence. According to Wheeler, Lueck, Swanson, Dirksen, &
Thornton (2007) the mutant RNA is responsible for the unregulated splicing

Ion Channels In Skeletal Muscle
The human body has various systems of how it is able to transmit signals across various tissues. One of the most important systems the body uses for
this signaling is ion channels. Ion channels are found in every part of the body, and are specifically used to transmit ions across gradients. In skeletal
muscle, these ion channels are used for muscle contractions that are coupled with action potentials and are initiated by depolarization of cellular
membranes. In skeletal muscle this occurs by a single nerve impulse that travels through neuromuscular junction (NMJ) and along the surface of the
sarcolemma membrane. The signal then enters radially inward along the transverse tubules which causes a conformational change of the calcium
channels and releases Ca2+ from the sarcoplasmic reticulum, inducing a muscle contraction. In certain disorders caused by mutations of ion channels
downstream of the NMJ, altered muscle contractions or muscle weakness may occur.
Ion channel mutations can cause muscular–contraction disorders such as myotonia or periodic paralysis, which are umbrella terms that encompass
muscle stiffness/lock up and ... Show more content on Helpwriting.net ...
These channels function as voltage–sensors that initiate depolarization–induced Ca2+ release from the SR as well as voltage–gated Ca2+ channels.
The channelopathy involved with calcium ion channels is homologous to sodium channels and can cause hypokalemic periodic paralysis through
similar fashion of gating pore current and, in rare cases, malignant hyperthermia due to changes in Ca2+ currents. The mutation that causes the
channelopathy causes ions to travel through an S4 segment of the voltage–sensor domain similar to the sodium ion channel. This gating pore is
voltage–dependent and active at hyperpolarized potentials. It is also susceptible to paradoxical depolarization in low KВ¬+В¬ concentrations and
causes K+–sensitive periodic

muscular dystrophy has many forms and therefore symptoms...
muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal
muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.
Eddie is an 11 year old boy and has been diagnosed with Duchenne muscular dystrophy. The symptoms appeared at the age of 5 and had led to the
weakening of his leg and arm muscles and the eventual need of a wheelchair. Some of these symptoms include:
Frequent falls
Awkward manner of walking
Fatigue and low endurance
Loss of motor skills (jumping, running)
Eventual loss of ability to walk
While Eddie is able to move around ... Show more content on Helpwriting.net ...
Additionally, contractures, which hinder the movement of joints, may occur along with the inability to bend the elbows. Heart problems will also
occur and by the age of 20, they will become more common. If left untreated, the patients affected will eventually suffer a stroke and die.
Emery–Dreifuss patients will also experience abnormal heartbeats that can lead to even slower one. However, the insertion of pacemaker can easily
aid to these problems and be lifesaving. Limb–girdle muscular dystrophy is a type of muscular dystrophy where the muscles affected are the hips and
shoulders, which are also known as the limb girdle muscles. Some symptoms of Limb–girdle are muscle weakness/atrophy, myoglobinuria, myotonia,
elevated serum CK, and in a fifth of the cases, cardiomyopathy. The symptoms continue to get worse over time and sometimes they can get worse
very quickly. The symptoms tend to appear around the age of 10 or 12, and the person may lose mobility within 20–30 years. Limb–girdle is not a
fatal disease, and death usually is caused by a secondary disease. But in the most severe cases the lifespan is shortened to about 20–30 years.
Facioscapulohumeral muscular dystrophy affects the face, scapula and upper arms. Symptoms develop early in childhood and will progress
throughout the years and by the age of 20, almost all people who are affected will show symptoms of Faciosapulohumeral

Essay On Myotonic Dystrophy
Myotonic Dystrophy is a late onset disease which has two types. The first type is DM1. In order to test for DM1 a molecular genetic test is
performed on DMPK. DMPK stands for Dystrophia myotonica–protein kinase. This test is 100% accurate because it will detect the pathogenic variants
in all patients. DM1 comes from a defect in chromosome nineteen.
The second type is DM2. Interesting enough the gene CNBP is the only gene in which a mutation within it is known to cause myotonic dystrophy in its
second type."It's more than 99% accurate with the combination of routine PCR, Southern blot analysis, and the PCR repeat–primed assay."DM2 comes
from a defect in chromosome three.
I choose to disagree with ASHG's statement. One main reason is that ... Show more content on Helpwriting.net ...
Eventually a need to focus on relearning how to do simple things such as getting up from sitting and going up and down stairs and gripping objects
will need to be reassessed. Often enough exercise has also been an issue and it has been debated on whether or not exercise makes the disease spread
faster but also disuse of the muscles can contribute to further weakness so that it's recommended to discover what is just the right balance for exercise
depending on the individual. Though a study was done that in which strengthening exercises at a moderate intensity did not speed up the disease
progression. Types of exercises that have been found safe are Aerobic exercises, which have been found effective in improving fitness in patients and
cardiovascular exercise though beforehand a cardiac examination is recommended and an ok from a primary care physician.
I restate my opinion that I disagree with ASHG's statement and my reasons are that simply the diagnosis of myotonic dystrophy takes years and I
believe that giving the child a chance to better their life with the disease is better than keeping them from knowing about their

Psy/210 Sexual Response Cycle
The sexual response cycle is a Masters and Johnson's model of sexual response which consists of four stages or phases. This model is founded on the
theory that male and female sexual stimulation– their sexual response cycles– are very similar with obvious differences due to physical make up. The
four phases are the excitement phase (initial phase for male and female), plateau phase, orgasmic phase, and the resolution phase. The phases fall in
sequence from the beginning of stimulation up toward the peak of climax and back down to levels of prior stimulation.
The excitement phase– initial phase of the sexual response cycle– takes place due to stimulation. Sexual arousal takes place during this phase and
vasocongestion (engorgement of blood ... Show more content on Helpwriting.net ...
Women's' heart rate, blood pressure, and breathing rate all continue to normal following an orgasm in both men and women. Both male and female
may become relaxed and have a feeling of satisfaction. A major difference in men from women in this phase is that men enter a refractory period or
a time when they are not responsive to further sexual stimulation. During this period the male cannot experience another orgasm or ejaculate. The
amount of time that the refractory period lasts depends greatly on the age of the male. In young males the period may last only a few minutes, in
males that are 50 or older the period may last from a few minutes to an entire day. Women do not experience this refractory period and can become
quickly aroused again to the point of having repeated or multiple orgasms if they so desire and if they continue to receive sexual stimulation.
Sexual dysfunction can occur in men and women and refers to a problem during any phase of the sexual response cycle that prevents the individual
or couple from experiencing satisfaction from sexual activity. Dysfunction is more common in the early adult years, with the majority of people
seeking help during their late 20s and early 30s. It is also common in the geriatric population, which may be related to bad health associated with
aging. There are four categories of sexual dysfunction. The first is desire disorders which are the lack of sexual desire or interest in sex. Also, there is
the inability

What is Muscular Dystrophy? Essay
According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive
degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a
genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not
contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can
gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle
problems as a baby or... Show more content on Helpwriting.net ...
They might even need a ventilator to breathe over time as the muscles that control breathing get weaker and weaker.
Becker muscular dystrophy (BMD) is very similar to DMB in that it also just affects boys and shares some of the same symptoms like weakness and
muscle breakdown but the symptoms are less intense and may start later in life. Sometimes the symptoms are not present until the age of ten or into
adulthood. Those diagnosed with BMD can have all of the same symptoms as DMB but many people with this disease live long and active lives
without the use of a wheelchair.
Emery–Dreifuss muscular dystrophy (EDMD) is a rare form of muscular dystrophy. It is another one that only affects boys that appears from
childhood to the early teen years and sometimes as late as the age of twenty five. It causes muscles weakness and wasting in the shoulders, upper
arms, shins, and often causes problems with the joints becoming tighter. Life threatening heart problems are common and can also affect those who do
not have this disease, but simply carry the genes for it. This is a slow progressing disease and often has slow progressing muscle weakness compared
to other forms of muscular dystrophy.
Limb–girdle muscular dystrophy is a form of the disease that affects both boys and girls equally and appears in the teenage years all the way into
adulthood. It usually progresses slowly over time and within 20 years walking will become difficult or impossible, eventually a wheelchair

Muscular Dystrophy Essay
"Dystrophy," originally coming from the Greek "dys," which means "difficult" or "faulty, and "trophe," meaning "nourishment" holds the interpretation
"poor nutrition." Today we know poor nutrition is not the cause of Muscular Dystrophy ("Myotonic Dystrophy"). Muscular Dystrophy is a genetic
disorder that affects between 500–600 newborns each year in the US (Statistics on Muscular Dystrophy). In general, this disorder weakens your skeletal
muscles, and eventually they degenerate. Muscular Dystrophy also has several specific types within the disorder, such as: Duchenne Muscular
Dystrophy, Becker Muscular Dystrophy, and Myotonic Dystrophy. Each one has their own specific characteristics. Muscular Dystrophy is a genetic
disorder in which ... Show more content on Helpwriting.net ...
Myotonic Dystrophy, or Myotonia, is the delayed relaxation of a muscle after it has been contracted. For example a person may not be able to
release their grip on a doorknob or handle. Myotonia, unlike Duchenne and Becker's Muscular Dystrophy, affects the upper body. More specifically,
the hands, face, neck, and forearms. Myotonia also affects feet as well. Myotonia doesn't actually show up until approximately nineteen years of age,
and luckily it does not shorten a person's lifespan ("Myotonic Dystrophy"). Myotonic Dystrophy doesn't have a very lengthy history, but a lot was
discovered over the years. In 1876, Thomsen described Myotonia having patterns similar to Myotonia Congenita. Also in 1886, Eulenburg came to the
conclusion it was also like Paramyotonia Congenita. Myotonia was also described Steinert in 1909, and he called it Myotonia Atrophica. One of the
most breakthrough discoveries dealing with Myotonic Dystrophy occurred in 1941, when Denny–Brown and Nevin concluded that this disorder affects
muscles not nerves. The genetic basis of the disease was discovered in 1992 (Myotonic Dystrophy. Yale Univ.) Myotonia produces a very wide
variety of symptoms. Symptoms include: baldness at the front and back of the head, malfunction of the ovaries and testes, facial weakness, drooping
eyelids, impaired swallowing and eye movement, cataracts in the eyes may develop, loss of coordination, and heart rates can be abnormally slowed.
Also muscles of the stomach could

Research Paper On Muscular Dystrophy
Muscular Dystrophy also known as MD, is known in many forms. Between those many
forms, the symptoms and signs change. All together there are a total of nine different types of
muscular dystrophies. These can either be born with or you can have the gene for it or not show
up till later in life. Muscular Dystrophy has many different types of forms and how they can
either be "cured" or slowed down and how doctors can and cannot tell which muscular dystrophy
is which by just the signs and symptoms that the patient has and how they diagnose someone
with muscular dystrophy.
With the very many types of muscular dystrophy, it is relatively challenging to diagnose
a specific one. Some of the more common types are: Congenital Muscular Dystrophy ... Show more content on Helpwriting.net ...
We say "normal" as a meaning of
a human who does not have any form of a muscular dystrophy whether they are a carrier or not.
7 Joiner
And which a carrier means that they do not physically have it but they have a gene for it.
"Limb–girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders

that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and
shoulder areas (limb–girdle area)." (National Organization for Rare Disorders). Genetic disorders
means that the patient has something wrong within their DNA. With it being the DNA sequence,
it might or might not be a challenging cure or not. "LGMD is a genetic disorder that is inherited
as either an autosomal recessive or dominant trait." (National Organization for Rare Disorders).
Which dominant means that it will show up in the offspring if one of the parents supplies that
gene. Recessive means that it might or might not show up, it depends if there is a dominant of
that gene supplied or not. If there is no dominant gene showing up, then they will show through
the genes. If there is a dominant gene that shows up, then the recessive will not show up but

Creative Writing: Morphology
"As long as you guys don't quote me, I can tell you I believe the killer was taller than five foot nine and shorter than six foot three. As you know, we
have a formula for everything," she said joking. "We came up with this calculation based on different criteria – the force used to split her skull, the
angle of attack, and so on. It will all be in the formal report for you to peruse at your leisure."
Maddie busied herself typing the information into her computer as it was relayed. She never missed an opportunity to use her computer to take notes
when she could, because her handwriting was so atrocious.
"We're leaning toward the suspect being a male. Two pieces of evidence lead us in this direction: the shoe size was 10 or 11 and the gait... Show more
content on Helpwriting.net ...
What about the weapon?" asked Antonio.
"It was a long tube like object. Once the Pathologist starts working on her, we'll collect the trace evidence transferred at the time of impact and have a
better indication as to what the tube was."
"Where was the killer standing when he hit her?" Maddie asked, finally catching up with her notes in a typing frenzy.
"It looks like the killer was standing to the right of the stairs over by the partition in the corner. That's where we found the second soil sample. More
importantly, the area around the partition is splatter free, so the killer's body must have blocked the blood splatter from spraying the wall behind him.
Probably, he was waiting for her when she walked up the stairs."
"Sounds right," Antonio, added. "That's what we concluded, too."
"Did the killer drive a vehicle to the scene? Were there tire tracks or anything?" Maddie asked.
"There were tire imprints that looked to be fresh. If they were from the killer's vehicle, he parked in the rear and walked from there. I don't know if
you had a chance to walk around the property, but there's a hidden driveway in the back. We took molds of the imprints, but they aren't ready for us to
evaluate yet. In fact, we sent them to an offsite contractor to process them for

Myotonic Dystrophy Type 1 Research Paper
When people think about a mutation or a genetic disorder, they often tend to think about fictional like characters such as a half beast half man
scenario. However, genetic disorders and mutations are simply just mistakes in the genetic code. These mistakes can be so minor that it has no effect
on you whatsoever, or they can be a major problem. Myotonic dystrophy type 1 is one of those genetic mistakes that has a huge impact on the way
you live your life. Myotonic dystrophy type 1 is a type of multisystem disorder that cannot be caught, but is genetically inherited. Myotonic dystrophy
type 1 has to do with a special gene and chromosomal problem, with very severe, rare symptoms, and it has a major impact on life.
First of all, what is myotonic ... Show more content on Helpwriting.net ...
The symptoms are also effected by the age of the carrier. If an adult is experiencing muscle weakness especially in the leg, hand, neck, and face, and
myotonia, which is uncontrollable contraction of muscles, they should be suspected of having DM1. If a newborn has hypotonia, facial muscle
weakness, general weakness, positional malformations, or respiratory insufficiency, it should also be suspected of having DM1. Many testes are
available to be able to determine if you have DM1. Some tests include electromyography, serum CK concentration, and a muscle biopsy. Checking
allele sizes also help to determine whether or not you are positive for DM1. Unfortunately, since the disorder is rare, it is very difficult to predict a
prognosis on it. "Non–molecular testing that has been used in the past to establish the diagnosis of DM1 currently has little role in diagnosis and is
primarily used if molecular testing of DMPK does not identify the CTG repeat expansion and other myopathies are being considered." (Thomas D.
Bird).
Living with DM1 usually has a major impact on your life. In some cases, you can be a carrier of DM1 and not be affected at all by it. But, in the
majority of cases, it really puts a damper on life. "Some people may experience only mild stiffness or cataracts in later life. In the most severe cases,
respiratory and cardiac complications can be life threatening even at an early age. In general, the younger an individual is when symptoms

Essay On Muscular Dystrophy
Muscular dystrophy (MD) is a genetic neuromuscular disease of various types that all result in the degeneration of muscle issue. The disease
manifests in several types that vary by muscular region and dystrophin levels in the body. Most patients with a form of MD will suffer joint and
muscle pain, pressure sores, and postural stress due to their condition. Potential clients with this disease will most likely be young boys, as MD mainly
affects the male population and shortens one's life expectancy to mid–20's. Clients who suffer MD will likely either require assistance getting onto a
massage table or would be better served through chair massage. The type of massage the client will receive will then be contraindicated depending on
fragile muscles, contractures, and medications.... Show more content on Helpwriting.net ...
In most cases it is an X–linked genetic disorder that is carried by the mother but only manifesting in sons. It is caused by a mutated gene and results
in low levels of dystrophin. Whereas normal muscles have dystrophin to help keep their shape and strength, those who suffer from MD tend to lack
proper levels of this protein or will not be able to produce it at all. According to the Muscular Dystrophy Association, there are nine types of DM, with
the two most common types being Duchenne and Becker. The symptoms of each type tend to differ, but Duchenne and Becker have similar signs:
muscle weakness in the extremities, difficulty walking, lordotic posture, and enlarged calf muscles. The most easily recognizable sign of MD is a
"toe gait," which is characterized by the patient walking on his/her toes and walking with an abnormal forward curvature of the spine in the lumbar
region. This gait is the result of the lower leg muscles compensating for upper leg muscles that no longer function, and the lordotic posture is due to a
tilted pelvis caused by weakened muscles around the

Functional Gait Assessment
"To look ahead," the phrase can mean to be prepared or to anticipate what will happen next. This is exactly what our research report is referring to.
Anyone would want to be aware of the potential of something happening to them, whether it is a positive or negative aspect. Prevention of injury is
the focus of interest regarding the report, Validity of the Functional Gait Assessment in Patients With Parkinson's Disease, by Yaqin Yang, et. al. This
report analyzes whether the Functional Gait Assessment (FGA) is a valid test and measure to use in a clinical facility to determine or predict the risk
of falls for patients with Parkinson's Disease (PD). Therefore, based on the results of the research study, "Should clinicians use FGA in their practice...
Show more content on Helpwriting.net ...
The FGA compared closely with these other assessments from moderate to strong compatibility (.57 to .85). The comparative values of the FGA with
the BBS, FAC, fast walking speed, ABC, Modified Hoehn and Yahr scale, BI, and MDS
–UPDRS–03 ranged from .85,.78, .73, .72, .70, .69, .and 66.
These correlations show a positive trend for the FGA being a reliable assessment for balance and gait of PD patients. The TUG and FGA did not
correlate as closely with a .57, but this difference is assumed to be due to the fact that TUG measures one characteristic while the FGA measures
provides more in depth views of gait and balance. Overall, the FGA concurrent validity still resulted as an efficient assessment to use. The FGA
cutoff score was set at 18, meaning that if a patient scored an 18 or lower in functional gait assessment, they were four times more likely to fall
than patients who scored over an 18. This cutoff score was chosen for its accuracy in sensitivity (80.0%) and specificity (80.6%). There were 43
patients who scored an 18 or under with 25 of those 43 patients experiencing an unexplained fall during the six month interval. This gave a positive
predictive value of 58.1%. The other 78 patients scored over an 18 and 72 of them did not fall leading to a negative predictive value of

Biology Sample Quiz
Republic of the Philippines SOUTHERN LUZON STATE UNIVERSITY College of Arts and Sciences Lucban, Quezon NSC01
– Biological Sciences
(Lecture) Removal Examination
Name: Course and Year:
Date:
GENERAL INSTRUCTIONS: Type your answer in a separate file, submit it one hour after you received this exam. You may open your notes. Late
submission will not be accepted. Please email me: restanmarkalvin@yahoo.com. Do not answer questions in RED. Good luck. _____1. The metabolic
rate of a resting, fasting, nonstressed ectotherm at a particular temperature is called A. metabolic rate B. BMR C. SMR D. budget allocation _____2.
The internal environment of vertebrates is called A. blood B. interstitial fluid C. hemolyph D. plasma _____3. It allows its ... Show more content on
Helpwriting.net ...
Which of the following is not an adaptation for reducing the rate of heat exchange between an animal and its environment A. feathers or fur C.
nonshivering thermogenesis B. vasoconstriction D. countercurrent heat exchanger _____26. Which of the following physiological responses is an
example of positive feedback? A. An increase in the concentration of glucose in the blood stimulates the pancreas to secrete insulin, a hormone that
lowers blood concentration level B. A high concentration of CO2 in the blood causes deeper, more rapid breathing, which expels CO2 C.
Stimulation of a nerve cell causes sodium ions to leak into the cell, and the sodium influx triggers the inward leaking of even more sodium D. The
body's production of red blood cells, which transport oxygen from the lungs to other organs, is stimulated by a low concentration of oxygen. _____27.
Which of the following animals is incorrectly paired with its feeding mechanism? A. lion–substrate feeder C. Aphid– fluid feeder B. Baleen whale–
suspension feeder D. Clam– suspension feeder _____28. Individuals whose diet consists primarily of corn would likely become A. obese B. anorexic
C. undernourished D. malnourished _____29. Which of the following enzymes has the lowest pH optimum? A. salivary amylase B. trypsin C. pepsin
D. pancreatic amylase _____30. Which of the following organs is incorrectly paired with its function? A. stomach– protein digestion C. large intestine–
bile production

Clc-2 Case Study
Discovered in the early 1990s, ClCs are involved in a many physiological processes including regulating resting membrane potential in skeletal muscle,
facilitation of transepithelial chloride reabsorption in kidneys and control of pH and chloride concentration in intracellular compartments through
coupled Cl–/H+ exchange mechanisms [1]. The family consists of nine members, with ClC–1 and ClC–2 giving rise to substantial chloride currents,
when expressed in Xenopus oocytes or transfected cells [2]. The ClC–1 channel is homodimer with both the N– and C–termini located on the cytosolic
side, which is encoded by the CLCN1 gene, and the channel itself is estimated to contribute ~80% of the resting membrane potential conductance.
ClC–1 ... Show more content on Helpwriting.net ...
ClC–1 is thought to be the main chloride channel responsible for muscle cell repolarisation, although not all 'whole muscle' experiments support this –
the majority of muscle cell repolarisation is attributable to action of voltage–gated K+ channels, but ClC–1 channel activity is nonetheless significant.
The physiological role of ClC–1 is demonstrated by the pathophysiology of myotonia congenital – which occurs from mutations in the CLCN1 gene.
ClC–1 channel inhibitors, such as A–9–C and CPP, can induce myotonia– a condition in which a single action potential (AP) at the neuromuscular
junction causes repetitive AP firing, and thus delayed muscle relaxation. Immunohistochemical evidence suggests ClC–1 is concentrated in the
sarcolemmal membrane rather than the t–tubular membrane, which was not expected – as repeated muscle stimulation accumulates K+ in the t–tubular
membrane, hence it would be expected to find the majority of chloride conductance localised here (Figure 2). This differs greatly from previous
physiological localisation of ClC–1, which suggested up to 80% of chloride conductance may be associated with the t–tubular membrane [6].
Interestingly, no clear physiological significance of ClC–1 channels has been detected in other tissues [5].
Figure 2 – Schematic of skeletal muscle fibre following repeated stimulation

Case Study : Muscular Dystrophy.
Case Study: Muscular Dystrophy
Scott Shannon
PHGY 220– Gerald McGraw
October 31, 2014
Muscular dystrophy is a group of inherited diseases in which voluntary muscles or the muscles that control movement, gradually weaken. MD is caused
by mutations in genes responsible for proper function and muscle structure. This disease in some forms, can also affect the heart and other organs. The
mutations disable the cells from properly maintaining muscle. This advances to muscle weakness and progressive disability. These mutated genes are
inherited from parents. MD can be passed on if one or both parents have genes that cause muscular dystrophy. The genetic mutation causing MD can
develop as in infant, which is called spontaneous mutation. This occurs in very few cases however. Some clinical effects of MD are: progressive
muscle weakness, difficulty using muscle groups, delayed motor skills, drooling, frequent falls, eyelid droops, difficulty climbing stairs, problems
walking, vertebral deformities, tendon reflexes reduced, and respiratory problems.
The condition can be a recessive inherited disorder, dominant inherited disorder or sex–linked (X–linked) disorder depending on the type of MD.
Recessive inherited disorder is an altered version of the gene that is inherited from both parents. If an altered version of the gene is inherited from only
one parent, the person will become a carrier. This means the person is not affected but any children they

Motor Unit: Potential Differences In A Skeletal Muscle
Motor unit :
A single motoneuron [Remark 1] and it' s axons supply not only just a muscle fiber, but also several muscle fibers . The muscle fiber that is supplied
by one motor neuron through its single axon along with branches are is called a Mmotor Uunit . A The numbers of variety of numbers ofmuscle fibers
in a motor neuron vary are present . It is has been observed in cat leg muscles that in one motor unit, approximately 120В¬, 165 fibers are present.
[Remark 2]
Electromyogram (EMG)
A motor unit activity is measured through placing recorded by inserting a coaxial electrode in to the muscle that is to be studied. Then, the
electrodesthey are connected to electromyography (EMG). [Remark 3] A recording is obtained during muscular... Show more content on
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Possible changes Potential differences are recorded from a small volume of the muscles in the immediate neighbuorhood of the tip of the needle tip .
Thus, it is has been observed that most of the electrical activity is from the active fibers near the electrodes. Sometimes, surface electrodes is are
used in stead of coaxial deep muscle electrodesdeep muscle coaxial electrode. In this recording method, two surface electrodes are placed on the skin
overlying the muscle, which is to be studied, over the to be studied muscle's at a reasonable distance.
Potential is recorded when the muscle becomes active but not wWhen the muscle is at rest, no action is potential recorded; however, as soon as the
muscle becomes active, potentials are recorded. The potential recorded during activity is attributed as a result of to the asynchronous discharge of
motoneurons [Remark 4] in the vicinity of the electrodes. During minimal voluntary activity, only a few number of motor units discharges, and as the
voluntary effort increases, the more number of units is activated. This is called known as recruitment of motor units.
Gradation of muscular activity is a part of the function of a number of motor units activated. [Remark 5] Electromyographic studies have clinically
importance in diagnosizs of motor unit disorders including peripheral nerve injuries, and neuromuscular

Dm2 Research Paper
The signs and symptoms of DM1 or DM2 can be very different based on the individuals, even among members of the same family. Many people
will not develop all of the symptoms tied to DM1 or DM2. DM1 and DM2 have many symptoms that overlap, but there are also symptoms unique to
each disorder, making it easier to identify them in individuals and making them distinct disorders. DM1 can develop at birth (congenital form),
during childhood (juvenile form) and during adulthood (adult form). The adult form is the most common form and usually begins in a person's 30s.
Generally, the signs and symptoms of these disorders can be seen in a person slowly over a long period of time. The onset of DM2 is typically in a
persons 30's, but anywhere between their

Dm-Myotonica Research Paper
It is estimated that 1 in 8,000 people worldwide develop the disease known as DM–Myotonica (GHR). DM–Myotonica is an inherited disease that
causes an abnormal DNA expansion, which in turn creates an over abundance of certain types of genes, and ultimately disrupts the integrity of normal
muscle function within in several parts of the body (MDA). The meaning of the name of the disease bears roots in Greek medicine, specifically the
abbreviation DM, standing for dystrophia myotonica; the term dystrophy means bad nutrition and myotonic refers to tonic muscle spasms, or the
inability of the muscles to relax (MDA 2015). There are two types of DM–myotonica which are named MMD1 and MMD2. MMD1 is the more
prominent of the two, but both result in abnormal

Taking a Look at Myasthenia Gravis
People go to doctors offices with a lot of different conditions everyday. A lot of those conditions happen to share the same symptoms which could make
it hard to determine what is truly wrong with a patient without a diagnosis. A diagnosis is "a methodical evaluation of symptoms and complaints
through interview, observation, testing instruments and/or procedures taken to determine if an illness is present" (1). It is important that a person be
diagnosed thoroughly and properly so that they can receive the right treatment (if available) to make the patient better. A patient with symptoms like
Susan's would need a full diagnosis to determine exactly what he/she has, which is what her doctor did. Her doctor's diagnosis made it easy for us to
determine whether her illness is myasthenia gravis or myotonic muscular dystrophy. Here's how.
We learned through research that myasthenia gravis and myotonic muscular dystrophy are two common forms of muscular disorders. Myasthenia
gravis is a neuromuscular disorder that usually occurs in the arms, head and chest (2). Its symptoms include limb weakness, drooping eyelids, impaired
vision, difficulty chewing and swallowing, slurred speech, difficulty breathing and abnormality of the thymus gland (3). Myotonic muscular dystrophy
is one of many forms of muscular dystrophy that is characterized by muscle wasting and myotonia or the inability to relax muscles (4). Its symptoms
include, but are not limited to drooping eyelids, cataracts,

Sexual Response Cycle
The Sexual Response Cycle
PSY 210
August 6, 2012
The Sexual Response Cycle
The sexual response cycle is a term referencing the changes that occur within the body as it is becoming aroused (Nevid & Rathus, 2010). This cycle,
the sexual response cycle, consists of four phases. Phase one is excitement. Phase two is plateau. Phase three is orgasm. Phase four is resolution. Even
though the changes that occur in men's and women's bodies differ in each phase, they do have some things in common. So that we may learn and better
understand what makes us different and the same, we must first learn the components that make up the sexual response cycle. There are two
components and they are vasocongestion and myotonia (Nevid & Rathus, ... Show more content on Helpwriting.net ...
The second disorder is female sexual arousal disorder. This is just a lack of vaginal lubrication and most women experience this at one time or
another in their lives. The third is male erectile disorder, or ED. This happens when a male cannot obtain or maintain an erection. Most men will
experience this at one time or another in their lives. When a man or a woman continues to have a problem in these areas, it is classified as a
disorder. It is very natural to experience these disorders every now and then. The fourth disorder is known as orgasmic disorder. This is when
someone has a constant problem with achieving orgasm even though they are sexually aroused. This disorder is more common in women; however,
men may experience this as well (Nevid & Rathus, 2010). Number five is premature ejaculation. This is when the man reaches orgasm prematurely
with little to no stimulation. This is the most frustrating for both men and women because the male ejaculates so quickly that he has no time to enjoy
the sexual experience, and the female is left unsatisfied. The sixth and final disorder is known as performance anxiety. This disorder is most similar
to stage fright. This is when someone is fearful of their performance in the bedroom. Performance anxiety is most often a result of the above disorders.
Luckily, for those that suffer from any of the above disorders, there may

Myotonic Muscular Dystrophy
Myotonic muscular dystrophy, an inherited disease, is the most common type of muscle disease among adults, and is frequently associated with flaccid
dysarthria (Duffy, 2013 p. 98). Myotonic muscular dystrophy is characterized by muscle weakness and mytonia, in the jaw, face, and neck muscles,
which can significantly affect speech, due to the muscles inability to adequately produce a contract–constrict sequence required for speech production
(de Swart, 2004). This muscle insufficiency as a result of muscle disease can lead to reduced loudness, speech rate, and intelligibility, as well as
hypernasality, hoarseness, and monotone voice (de Swart, 2004). However, researchers have previously found that myotonia may temporarily improve
when an ... Show more content on Helpwriting.net ...
Once it was determined that the participants met the inclusion criteria, all patients began to undergo testing to evaluate the fatigue during conversation
and the impact of "warm ups" on speech production. The testing required all individuals to complete 3 consecutive trials of continuous speech for a
minimum of 10 minutes each, so that researchers could compare each participants initial and final trials to determine the amount of change in speech
productions related to the amount of time the individual has spoken for (de Swart, 2004). Within the 10–minute time span that participants were given
to speak, they were required to first complete AMRs (e.g. papapa, tatata, kakaka) to determine maximum repetition rate (MRR), then read aloud, and
then finally produce AMRs again. In addition, maximum sounds prolongation (MSP) was measured via sustained vowel production of /a/ and
voiceless consonant productions of /s/ and /f/. Finally, participants were asked to rapidly say the months of the year. Once all of the speech samples
were collected, researchers compared the trials to determine if the negative effects of myotonia decreased with increased length of speech

Overview of the Sexual Response Cycle
Sexual Response Cycle There are specific changes that occur in the body of men and women when they are sexually aroused known as sexual
response cycle. The cycle occurs in various phases that can be different or similar in women and men. The general characteristic of the sexual
response cycle is vasocongestion and myotonia. Vasocongsetion refers to swelling of the tissues in genital areas with a lot of blood. This results
to an erection of the penis in men and the swelling of the tissues that are located around the opening of the vagina. Nipples, testes, ear lobes also
undergo swelling as a result of dilation of blood vessels located in these areas. Myotonia refers to tension in muscles that often results to grimaces
in the face, spasms within the handsand feet as well as spasms in an organism (Cleveland clinic, 2013).This is despite the fact that there are major
differences between men and women compared to their similarities. The paper will look at the phases in sexual response cycle for women and men.
It will also look at the changes that occur in the body of men and women during the phases of the sexual response cycle. It further looks at the
similarities that exist in these phases of the sexual response cycle in men and women. Sexual response cycle in men The first phase is the excitement
phase that leads to an erection in men three to eight seconds after the sexual stimulation commences. This is followed by a thickening in the scrotal
skin and it becomes less

Myotonic Dystrophy Research Paper
Myotonic Dystrophy is the most common form of muscular dystrophy. It is a chronic, multi–system disorder that is characterized by progressive
muscle wasting and weakness. Symptoms include; myotonia (prolonged muscle contractions), the inability to relax certain muscles after use, slurred
speech, temporary locking of jaw, cataracts, abnormalities of the electrical signals that control the heartbeat, and early balding and infertility in men.
There are two major types of myotonic dystrophy, type 1 and type 2. Many of the symptoms are overlapping, the only differences are type 1 is
generally more severe than type 2 and type 1 affects the lower legs, hands, neck and face. Whereas, type 2 affects the neck, shoulders, elbows, and
hips. Myotonic dystrophy... Show more content on Helpwriting.net ...
This protein may play a role in the communication within cells, especially those of the heart, brain and skeletal muscles. It is believed that the protein
is involved in the communication between cells and regulates the production and function of important structures inside muscles cells by interacting
with other proteins. The DMPK gene is located on the long arm of chromosome 19 at position 13.3. It is between base pairs 45,769,708 and
45,782,556 making it 12848 base pairs long. It consists of a trinucleotide repeat of the nucleotide sequence CTG. Meaning that the nucleotides CTG are
repeated multiple times. In a normal DMPK protein the number of CTG repeats ranges from 5–34. The mutation that causes myotonic dystrophy is
known as trinucleotide repeat expansion, meaning it increases the number of times CTG is repeated in the gene. People with myotonic dystrophy can
have 50 to 50,000 repeats, the more repeats an individual has the worse their symptoms are. The increased number of repeats produces an expanded
version of mRNA, which then forms clumps inside the cell that interfere with the production of many other proteins. These clumps prevent muscle
cells and cells in other tissues from functioning

Myotonic Muscular Dystrophy Research Paper
Myotonic Muscular Dystrophy (MMD) Myotonic Muscular Dystrophy, abbreviated MMD, is a disease that affects the muscles and organs of a body.
To break Myotonic Muscular Dystrophy down, the word myotonic is the adjective for myotonia, which is an inability to relax muscles at will.
Muscular dystrophy means the gradual muscle degeneration, which weakens and shrinks muscle tissue. Knowing the breakdown of MMD, this
disease summed up means a person is restricted to relax their muscles at their own will whenever they would like ("Overview Myotonic Muscular
Dystrophy"). MMD is also known as "Steinert Disease", which was named after a German doctor who first described the disorder in 1909 ("Facts
About Myotonic Muscular Dystrophy"). There are two types of Myotonic Muscular Dystrophy. Type one MMD, abbreviated MMD1, occurs when a
gene on chromosome 19 contains an abnormally enlarged section. Type two MMD, abbreviated MMD2, is caused by an abnormally enlarged on
chromosome 3. Myotonic Muscular Dystrophy is an ... Show more content on Helpwriting.net ...
High blood sugar, gallstones, difficulties in childbirth, and low blood pressure are other symptoms of Myotonic Muscular Dystrophy ("Facts About
Myotonic Muscular Dystrophy"). MMD1 affects the distal muscles of limbs, first. Often times, the distal muscles are the only muscles affected
therefore, lower limbs can appear significantly smaller than the proximal limbs. MMD2 affects the proximal limbs more so than the distal limbs.
People with both types of MMD notice they have a weak grip on utensils and have trouble using their wrist or hand muscles. The muscles that pick up
the foot when walking can weaken, causing the person to trip and fall ("Myotonic Muscular

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