Muscular dystrophy is a neuromuscular disease which causes progressive weakness and loss of muscle mass. It occurs due to abnormal genes interfering with the production of proteins needed to form healthy muscle. Most of the symptoms of muscular dystrophy begin in childhood, whereas, the chronic symptoms don’t surface until adulthood. Progressive muscle weakness is the main sign of muscular dystrophy. There are several diagnostic procedures that help in confirming if a person is suffering from a neuromuscular disease. One of them is genetic testing. The diagnostic procedure uses blood samples and examines them at the genetic level for a mutation that might be causing the neuromuscular disease. Read on as the article discusses more about the diagnostic procedure and its efficiency in confirming if the person is suffering from muscular dystrophy. Genetic testing As discussed above, genetic testing is used to analyze the cells in a blood, tissue, or saliva sample to look for specific mutations in the DNA that might be causing muscular dystrophy or other neuromuscular diseases. It is believed that each of the 30 different types of muscular dystrophy is associated with a unique genetic mutation. These mutations repeat their genetic codes in a single piece of ribonucleic acid (RNA).

Muscular dystrophy is a disease which causes progressive weakness and loss of muscle mass. It occurs due to the interference of abnormal or mutated genes with the production of proteins needed to form a healthy muscle. There is no specific cause of suffering from muscular dystrophy as it affects the person at a genetic level. The primary symptom of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms of the disorder begin at different ages and in different muscle groups. Following are some types of muscular dystrophy based on different ages, symptoms, and muscle group: Duchenne muscular dystrophy (DMD) It is the most common and the most severe form of muscular dystrophy. Duchene muscular dystrophy (DMD) accounts for a total of 50 percent of total cases of muscular dystrophy. It is caused due to a deficiency of dystrophin, which is a protein that helps in strengthening muscle fibers, thereby, protecting them from injury. The DMD symptoms include unusually fat calf muscles due to fat accumulation, waddling when walking, and facing difficulties to rise from a sitting or a lying position. DMD usually develops in boys aged between three and five and progresses rapidly. Becker muscular dystrophy (BMD) Having similar causes as DMD, Becker muscular dystrophy (BMD) is also caused due to deficiency of dystrophin.

The pancreas is responsible for producing and supplying enzymes that help digest food. However, in exocrine pancreatic insufficiency (EPI), the pancreas is unable to generate adequate amounts of enzymes that the body requires to break down food and absorb nutrients. This condition develops slowly, so one might not notice the symptoms right away. As the condition progresses, it triggers symptoms such as abdominal pain, gas, diarrhea, feeling full, and foul-smelling stools. Additionally, one might experience weight loss and nutritional deficiencies because of the body’s inability to absorb the essential vitamins and minerals. Damage to the pancreas can lead to exocrine pancreatic insufficiency. One of the common causes of EPI is chronic pancreatitis. This occurs when the enzymes created by the pancreas start functioning while they are still inside it instead of moving to the small intestine. The risk of chronic pancreatitis is amplified if one is into heavy drinking. However, immune system disorders, inflammation of the pancreatic passageways, and high amounts of triglycerides can also cause exocrine pancreatic insufficiency. Likewise, surgery on the intestines, pancreas, or stomach, and inherited diseases like cystic fibrosis and Shwachman-Diamond syndrome can also contribute to the development of EPI. In rare cases, digestive disorders such as celiac and Crohn’s disease can also induce this disorder.

There are several health conditions that are disabling and interfere with the person’s ability to lead a normal life. Rheumatoid arthritis is one of those conditions that is known to affect several joints in the body and cause chronic pain. This condition causes joint pain and inflicts damage throughout the body. An autoimmune disease, it causes damage to both sides of the body, which means that if joint in one of the arms or legs is affected, the same joint in the other arm or leg will be affected as well. This tendency of rheumatoid arthritis helps doctors distinguish between rheumatoid arthritis and osteoarthritis. Rheumatoid arthritis is characterized by symptoms like joint pain, stiff joints, swelling on joints, and loss of joint function. In a nutshell, rheumatoid arthritis affects your motor skills as it makes walking around excruciatingly painful. Though there is no exact cure for rheumatoid arthritis, there are several ways to bring the symptoms under control, which include the use of medications like nonsteroidal anti-inflammatory drugs (NSAIDs), acetaminophen, and corticosteroids. In addition to these medications, there are other ways that can help you coexist with this painful condition. They are as follows: Get enough sleep It can be difficult for people with rheumatoid arthritis to get a good night’s sleep as chronic pain can interfere with your sleep.

An autoimmune disease, Lambert-Eaton myasthenic syndrome (LEMS) causes the immune system to attack the body’s muscle tissues. It affects the neuromuscular junction (a connection between the muscles and nerves), impacting the nerve cells’ ability to deliver signals to the muscle cells. The immune system particularly strikes the calcium channels situated on nerve endings that are supposed to initiate chemical (acetylcholine) release in the body. Acetylcholine is a form of chemical messenger that prompts muscle contraction. Individuals suffering from LEMS have low levels of acetylcholine, which is inadequate for normal functioning of the muscles, thereby leading to muscle weakness. This neuromuscular disorder is quite rare, and almost 60% of the cases are associated with Small Cell Lung Cancer (SCLC). Typically, the symptoms of LEMS are identified right before SCLC is diagnosed. The LEMS patients with cancer are often around 60 years old. Likewise, they have a long history of smoking. However, LEMS can affect a person at any age if it is not related to cancer. Symptoms of Lambert-Eaton myasthenic syndrome (LEMS) In the initial stages, LEMS will primarily cause weakness in the muscles of the upper legs and hips, making it increasingly difficult for one to walk. It will gradually also cause weakness in the shoulders and upper arms, tapering one’s ability to engage in daily physical activities.

What people crave toward the end of a tiring day is a good night’s sleep. People often equate snoring loudly to sleeping blissfully and are often unaware of the serious connotations of the same. Snoring that is often loud, disruptive, and regular is a symptom of a sleep disorder known as sleep apnea, which affects about 20 million people in the country. Sleep apnea is a serious sleep disorder where the individual stops breathing periodically when asleep. Moreover, these cessations in breathing can occur anywhere from a few times to hundreds of time throughout the individual’s sleep. Sleep apnea is often accompanied by a slew of other health ailments as the cessations in breathing implies that the person is partially awake, and this forces the brain to come out of the deeper stages of sleep to make the body start breathing again. As this occurs several times throughout the sleep, it disrupts the person’s sleep and as the quality of sleep deteriorates, various other medical complications arise. There are three types of sleep apnea, each of which affects the individual in different ways. Obstructive sleep apnea (OSA), central sleep apnea (CSA), and mixed sleep apnea are the three major types of sleep apnea and learning more about them will help people identify the condition and seek treatment accordingly.

An inherited immunodeficiency, the chronic granulomatous disease is a rare medical condition that affects specific white blood corpuscles. In this condition, the immune system gets affected and does not function properly. This leads to fungal and bacterial infections, which are the result of chronic inflammation. In most of the cases, it is during early childhood or infancy that the features of the condition are developed in the body. The mutations or changes in any of the five genes can cause chronic granulomatous disease. Signs and symptoms People with chronic granulomatous disease may experience some of the medical conditions such as skin infections, pneumonia, lung infections, gastrointestinal inflammation, lymph node infections, and other types of infections. Moreover, some people may experience the development of clusters of white blood cells in granulomas, referred to as infected areas. In some of the cases, the chronic granulomatous disease is diagnosed during the childhood itself, but in other cases, it is only in adulthood that the condition gets diagnosed. Chronic granulomatous disease may affect any tissues or organs in the body, but the parts most infections are found in are: Skin Bones Brain (occasionally) One of the other signs of this condition is that the body has trouble in healing wounds.

A form of arthritis, gout is characterized by an acute episode of severe pain and inflammation of the joints that often affects the big toe. It occurs when one has high levels of uric acid in the blood. This excessive uric acid then forms hard, urate crystals that accumulate around the joint. Uric acid is produced when the body breaks down purines, substances that are naturally found in the body as well as certain foods. Under normal circumstances, the body eliminates the uric acid via kidneys when it is dissolved in the blood. However, the ability of the body to excrete the excessive uric acid, at times, might be affected by factors such as an unhealthy diet, obesity, certain types of medications, chronic conditions, and recent surgery or trauma. If gout is left untreated, it can lead to recurrent bouts of pain and swelling in the joint, affect other joints of the body, or form kidney stones. Fortunately, gout can be managed well with medications, diet, and home remedies. Treating gout To confirm the diagnosis, doctors will recommend a couple of tests that may include a joint fluid and blood exam, an X-ray, a dual energy CT scan, and an ultrasound.

Lyme disease is caused by Borrelia burgdorferi (B.burgdorferi), which is a bacteria transmitted to humans through a bite from an infected black-legged or deer tick. Its symptoms can appear anywhere in between three to thirty days after the bite. The chances of developing the Lyme disease from a tick bite depends on the kind of tick. Several disease experts suggest black-legged ticks should be attached for 36 to 48 hours to transmit the disease. A recent study revealed that the ticks have expanded their range from southern parts of the country to the Northern region, increasing their population by almost 80 percent. The symptoms of Lyme disease depend on the following 3 stages: Stage 1: Early localized disease The symptoms start within two weeks after the tick bite. A “bulls-eye” rash is one of the earliest signs of Lyme disease, indicating that the bacteria have multiplied and entered the bloodstream. The rash occurs at the site of the tick bite and can be warm to touch but it is not painful and does not itch. It usually disappears after a couple of weeks. Stage 2: Early disseminated Lyme disease The early disseminated Lyme disease occurs several weeks after the tick bite as the bacteria starts spreading in the bloodstream.

A migraine is not just a headache; it is a complex neurological condition that affects the entire body and causes multiple symptoms even without a headache at times. Migraine is one of the most common health conditions, but researchers have still not found the exact cause of migraine, and there isn’t any definite method of diagnosing the condition. Despite unclear causes and diagnosis tests, there are ways to manage and reduce the symptoms and attacks although the condition is not completely curable, thereby reducing the disruption caused in everyday life. Treating migraine becomes the utmost priority of most people who suffer from the condition, and most often, patients are required to make several lifestyle changes to treat it. There can be four different approaches to treating a migraine, which include acute treatments, complementary treatments, preventive treatments, and self-help measures. Acute treatments : Acute treatments are often used to treat a migraine attack when it occurs and is available in different forms. Each form helps in relieving headaches and other migraine symptoms that enable the affected person to carry on their daily activities normally within 2 hours. Medications that come under acute treatments are available in different types, as mentioned: Over-the-counter treatments Anti-sickness treatments Prescription painkillers Migraine-specific drugs Complementary treatments :