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,
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The most common features of Neuromyotonia is muscle stiffness, muscles contracting, twitching muscles (myokymia), and weakened reflexes. These symptoms can be designated to a particular area, usually the face and hands or throughout the body. Stiffness is mostly featured in the limbs and trunk muscles. Observable symptoms include abnormal movements, pains and cramps. Behavioral changes include disruptive sleep, excessive sweating, although these types of symptoms are uncommon. Symptoms can occur during sleep and when under anesthesia. Muscle fiber excessive activity can lead to muscle weakness or increase size of muscle cells known as hypertrophy (David, Firth, Cox 515). Being diagnose with Neuromyonia ranges from a wide age range fifthteen to sixty, most people experience signs before their forties (Maddison 2119).
Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)
Limb-girdle muscular dystrophy is another disease that causes weakness and wasting of the muscles. Limb-girdle muscular dystrophy (LGMD) is an extremely rare disease that specifically affects the bony structures that surround the hip and shoulders. The bony structures that surround
Myasthenia Gravis (MG) is a chronic autoimmune disorder of the neuromuscular system part of the body. Chronic means persisting for a long time or constantly recurring. Autoimmune disorder is the confusion of the body’s immune system. The immune system form antibodies that mistakenly identify healthy tissue as foreign and then, the antibodies will attack and/or destroy healthy body tissue. Neuromuscular is the nervous system relationship with the muscles bring about body movement.
Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.
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
Now different types of MD affect different types of muscles. For example, Duchenne and Becker (DBMD) mainly affects the upper arms and upper legs first, whereas Myotonic Muscular Dystrophy (MMD) usually affects the Face, neck, arms, hands, hips, and lower legs first. The muscles in our body help us in our everyday routine, ranging from being able to lift heavy object, to being able to do something as simple as walking. Since MD targets the muscles it becomes difficult to near impossible to accomplish these tasks. It is common for people who have had MD for 5 years or more to be stricken to a wheelchair because the muscles in the legs have weakened to the point of non-existence.
Muscular dystrophy can be diagnosed with a physical exam and diagnostic testing completed by the child’s pediatrician. Additional information that will be obtained during the examination will be family history, pregnancy history, and birth history. Diagnostic studies for muscular dystrophy include muscle serum enzymes (especially creatine kinase), electromyogram (EMG) testing, muscle fiber biopsy, electrocardiogram abnormalities reflective of cardiomyopathy, and genetic pedigree (Lewis, 2011). Duchenne muscular dystrophy is caused by the lack of dystrophin. A muscle biopsy can be done to confirm a diagnosis of muscle dystrophy. The biopsy will show evidence of significant fat and connective tissue deposits, deterioration and necrosis of muscle fibers, and a lack of the muscle
The symptoms may seem obvious for muscular dystrophy. When muscles degenerate, they cannot be used at the fullest potential. The earliest symptom may be delayed walking in children (Bushby et al., 2009). A reduction in size and strength of muscle is another sign that muscles could be degenerating. The variations of muscular dystrophy disease target different and several muscles. Having trouble using a group of muscles may be a sign of muscular dystrophy disease. Some may have trouble standing up, and some people may fall frequently also (How is muscular, n.d.). If the patient has weak respiratory muscles, they may have trouble breathing due to a lack of airflow (Makker, H., M., & P, 2012).
Muscular Dystrophy (MD) is a disease that can be defined as a group of genetic traits that includes deteriorating by the voluntary muscular and/or skeletal movements. Other organs such as the heart are another example of an involuntary muscle that can easily be affected by the disease. Muscular Dystrophy can effect anyone - child or infant, and even middle age to older adults. The overall severity of the disease depends on when it decides to show up. Some factors are simply the age of the individual, the current condition or strength of their muscles, how fast the disease progresses, and as well genes. Most do are not fully aware of the severity of the disease, nor do they know that there are nine different types out there. Some types of Muscular Dystrophy affect males.
Myasthenia Gravis is a weakness and rapid fatigue of muscles under voluntary control. This disease is caused by an interruption in communication between nerves and muscles at the neuromuscular junction; this is the place where nerve cells connect with the muscles they control. The muscle weakness increases through periods of activity and then improves during rest. For example, muscles that control eye and eyelid movement, facial expression, chewing, talking, and swallowing, these are the most often muscles affected. Other muscles that can be affected are muscles that control breathing and neck and limb movement can be affected. Symptoms include, difficulty swallowing, double vision, unsteady walk, weakness in arm and leg muscles, and difficulties
Muscular dystrophy or MD, a disease that causes progressive weakness in muscles. This occurs when a mutation that alters the production of proteins that the muscles need. MD is more common in boys, and in most cases, symptoms begin in childhood, but could not appear until later in life, depending on the type of MD. As of now, there is no known cure for MD but, there are treatments to slow the progression of the disease.
Myasthenia gravis may affect any voluntary muscles. They may affect muscles that control the eyelid movement, facial expression and swallowing. The most symptoms of myasthenia gravis that can be noticed are the weakness of the eye muscle that causes double vision. Some symptoms of myasthenia gravis may include unstable walk, arm weakness, weakness in hands, fingers, legs and neck, change in facial expression, having a hard time swallowing, shortness of breath, and having problems with
Damage to the neuromuscular junctions is due to an autoimmune disease called myasthenia graves. The motor end plates, which are located on skeletal muscles, are affected because there is a decrease in the amount of Ach receptors located on the motor end plate, which is connected to the neuromuscular junction. The decrease is due to the unnecessary production of antibodies, which bind to the motor end plate. This prevents Ach from binding to the receptors to carry out a synapse between the skeletal muscle and a neuron, leading to a stop or weakening of muscle contraction. The decrease in the amounts of synapses cause the skeletal muscle to lose function, become weaker, and tire more easily.