Duchenne muscular dystrophy, or DMD, was named after neurologist Guillaume Duchenne. During the late nineteenth century, Duchenne carried out experiments that included taking a biopsy of the living tissues from boys with DMD. Because of these experiments, Duchenne was the first to conclude that the disease was based in the muscles. Muscular dystrophy is a type of genetic disease that causes the progression of muscle atrophy and weakness. Duchenne muscular dystrophy is characterized as the rapid developing form of muscular dystrophy, and predominantly occurs in young males generally between the ages of three and five. Out of roughly three and half thousand births around the world, one baby will have this disease.
Duchenne muscular dystrophy
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These symptoms usually occur during early childhood, age one to six, and even sometimes as early as infancy. Normally, the delay of motor skill development is the first obvious symptom of DMD. Between the ages of six and eleven, symptoms of muscle …show more content…
Also, there is not a known treatment that has single handedly stopped the source or progression of the disease. However, there are many new and assuring treatments that are being clinically tested now. Most of the treatment that patients with Duchenne muscular dystrophy undergo is generally targeted towards their symptoms. Medicinal and physical therapy help to manage these symptoms to help patients live a more comfortable lifestyle. To accurately diagnose a patient with Duchenne muscular dystrophy, genetic testing is essential. Some diagnostic tools to aid in this determination include patient and family history, a CK level blood test, and a physical examination. Patients with Duchenne muscular dystrophy have a life expectancy up to their teen years. Now however, these patients have been able to live up into their thirties. Survival of this disease has increased in recent years due to medical advancements. Now patients with DMD are living into their thirties, getting married, having kids, and pursuing careers. Last year, researchers conducted an experiment using CRISPR as a method to take out the mutated DMD gene from the DNA of
Muscular Dystrophy is a diverse group of disease which involves the weakness and wasting of muscles and leads to many other problems in physiological system. It is because of mutation in gene related to contraction and relaxation of muscles. Although recently no perfect treatment option is available for it but in nearby future cure of this disease will be available due to advanced technology and methods like gene therapy and stem cell technology.
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
At younger age sets in and wastes away muscles in multiple parts of the body making life hard for the affected individuals. This wasting starts at the face and continues to the shoulders where it is more severe. But these are not the only effects Infantile facioscapulohumeral muscular dystrophy has on the individual. Infantile facioscapulohumeral muscular dystrophy also has non-muscular effects. A person diagnosed with this disorder will have vision problems, hearing loss and sometimes seizures.
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
The average lifespan of an individual with DMD is of about 18 years old. Some of the most common causes of death are heart failure, respiratory failure or infection and airway obstruction.
The earliest symptoms of ALS are weakness of the muscles, which is to be expected. These types of symptoms can involve having trouble swallowing, cramping, or stiffness of certain muscles. As the disease progresses, patients lose the ability to control all voluntary movements. Generally, sensory nerves and the autonomic nervous system are unaffected, meaning that individuals with ALS can hear, see, touch, smell, and taste properly. The types of muscles you are able to control by the early symptoms, all depends on which motor neurons are damaged first. The most common motor neurons that get damaged early on are the ones called “limb onset,” which have to do with the arms and legs. As expected, people with “limb onset” experience trouble when walking and running, such as stumbling, tripping, or dragging of the foot. Other types of “onsets” that ALS patients might experience, is “bulbar onset” and “respiratory onset.” Bulbar onset ALS patients have a difficulty time speak...
Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene that generates a protein called dystrophin. The function of this protein is to help muscle cells keep their strength and shape. Without the presence of this protein, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart c...
It can be noticed by the parents at early age (congenital) or during childhood (from 3 to 6 years). Recognizing ASD is by observing the patients' communication skills, interaction with people and things around him\her and sometimes by some health problems like sleeping problems and gastrointestinal distress. This changes are usually noticeable in the first two years in children because these are the most interactive and transitional years of the children's lives. (2,5) These symptoms are reduced down to three main symptoms which are social interaction, communication, and repetitive behavioral issues. Social impairment is what distinguish ASD from other developmental disorders. Most patient with ASD finds interaction with others difficult and challenging or lack the intuition about people. They also tend to avoid eye contact, fail to respond to their own names, and prefer to be alone. However they form attachments to their primary caregivers. (2,4,5)Second, communication problems which can occur in different verbal abilities from no speech to fluent, but impropriate and awkward. They are noticed when trying to ask for something or tell something, and it can appear as delay in talking or difficulty in following or starting a conversation. (5,6)Finally, is the behavioral issues which mainly are focusing on unnecessary things like the far train's voice, inability to live without daily routine, and stereotyped behavior like hand
Myotonic dystrophy, type 1, is a genetic disorder which is linked to chromosome number 19 in humans. The dystrophia myotonica protein kinase gene is located on the q arm of the chromosome at the locus of 13.32. It is an autosomal dominant disorder, which means that the individuals that are affected by this disorder and contain at least one dominant allele for the dystrophia myotonica protein kinase gene. The disorder is caused by a series of repeats of a trinucleotide region that is expanded beyond the normal levels (Musova et al., 2009). The trinucleotide region is a series of repeats of CTG in the untranslated region of the dystrophia myotonica protein kinase gene. The severity of the disorder is associated with the number of repeats the individual has within the gene. Normal individuals tend to have between 5 and 37 repeats while an individual with a very mild myotonic dystrophy may have 50 to 150 repeats, and if the disorder is discovered at the time of birth the individual will have over 2,000 repeats of the trinucleotide region (Musova et al., 2009). Myotonic dystrophy, type 1, affects multiple organ systems of the body and is relatively slow to progress. Myotonic dystrophy, type 1, is categorized by alterations of the beating pattern of the heart, faulty dystrophin proteins, clouding of the lens of the eye, decreased functionality of the gonads, balding, and myotonia (Musova et al., 2009). Myotonia is described as the slow relaxation of any muscle type, which will cause the individual to use extended effort to simply relax the muscles after they have been contracted. Muscular dystrophy causes an individual to experience muscular deg...
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
...ld die during childhood or survive into adulthood. (“NINDSS Muscular Dystrophy Information Page,” 2014 April 19)The lifespan of a person with the disease is dependent on the severity and amount of treatment of muscular dystrophy. With new research being done constantly there is new hope every day that a cure for muscular dystrophy will be found. (“New knowledge about Muscular dystrophy,” 2014 May 5)
is usually first diagnosed in children when they are about 2 years old. A child may
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles. " Muscular Dystrophy has no cure, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and while survival is rare beyond the early 30s, death is usually caused by a respiratory disease.
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the