“Spinal muscular atrophy (SMA) is a genetic condition that causes worsening muscle weakness. There are five subtypes, which range in severity and age of onset. There’s no cure for SMA, but certain therapies and medications can help manage symptoms.”
Cleveland Clinic (Cleveland Clinic (https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma)
Amyotrophic lateral sclerosis concept illustration
ALS amyotrophic lateral sclerosis is a rare neurological disease affecting nerve cells that control voluntary muscle movement. Amyotrophic Lateral Sclerosis or ALS, more commonly known as Lou Gehrig’s disease, is a terminal and progressive motor neuron disease. ALS specifically targets and kills the motor neurons responsible for controlling the vast majority of skeletal muscles in the human body, which eventually leads to respiratory failure and death.
Individuals with ALS experience a degeneration of their motor neurons, which causes the muscles to stop receiving the signals needed to function. After a certain time, the brain completely loses its ability to control voluntary movements, hence, people with ALS are unable to walk, move, or even breathe properly.
ALS belongs to, and is perhaps the most common example of, a group of neurological disorders known as Motor Neuron Diseases. These diseases affect the body by causing the death of millions of neurons found in the motor cortex of the brain as well as the spinal cord. These nerve cells are directly responsible for the regulation and control of skeletal muscle function.
Considering the damage ALS can do, it became essential to spread the message regarding the disease so that people could treat it at an early stage. Though there is no cure for ALS but early detection can help in improving the quality of life of those with the disease.
A positive diagnosis of ALS is based primarily on a patient’s symptomatology. Unfortunately there is no test that can currently provide a more conclusive assessment.
There are many diseases whose symptoms resemble those observed in patients with ALS. Therefore, diseases such as cervical osteoarthritis, cervical hernias that compress the spinal cord, heavy metal poisoning, and some infectious diseases such as Lyme disease or syphilis, can delay a correct diagnosis of ALS immediately.
As such, when ALS is suspected, it is common practice to rule out other diseases through a variety of tests including but not limited to lumbar punctures, MRIs, and electromyographic studies. In some cases, it might be necessary to perform a biopsy of muscle tissue in order to assuage any remaining doubts.
Often, the earliest symptoms of ALS are ignored or outright dismissed. Therefore, better understand this disease’s signs and symptoms.
Pt’s with ALS eventually lose the ability to control all voluntary movement. During the progression of the disease, which typically lasts for several years, patients will experience a cumulative loss of muscle strength.
In most cases, the first muscles affected by the disease are those of the arms and legs which results in patients experiencing awkwardness when walking or moving about, an increased propensity for stumbling or tripping, and difficulty performing everyday tasks especially fine motor tasks like texting on the phone, typing, and even tying shoe or sneaker laces.
This is when the muscle actually deteriorates and muscle is lost. Leading to muscle dystrophy,in the specific case of ALS, it occurs due to a dramatic reduction in the connection between nerves and muscle fibers caused by the death of motor neurons. It often culminates to paresthesia to partial or total paralysis.
Fasciculations are slight and involuntary muscular contractions that occur underneath the skin, but that do not produce any observable limb movement. Fasciculations are visible to the naked eye and are sometimes described as looking like small worms are moving within the muscle. These contractions occur because of spontaneous nerve discharges that fire within clumps of skeletal muscle fibers. They can occur due to damage present in the lower motor neurons. They could be considered an early warning sign of the possible onset of ALS.
Muscle cramps are highly common in patients who have ALS, and their incidence increases as the disease progresses. These sustained involuntary contractions of the muscles are typically accompanied by palpable contractures, can last anywhere from 30 to 45 seconds, and tend to be extremely painful. Spasticity could develop and may not allow certain movements as a consequence of cramps; in which antagonistic muscle groups participate.
“An accurate diagnosis is necessary to treating gastroparesis, since the treatment depends on the cause. If your doctor diagnosed an underlying disease or condition that is causing the gastroparesis, the treatment will focus on correcting or reversing that condition; if there is no underlying cause or if it is not possible to treat it, then the goal of treatment is to promote gastric emptying and relieve your symptoms.
The first step is to stop taking medications that inhibit or delay gastric emptying.”
John Hopkins Medicine (https://www.hopkinsmedicine.org/health/conditions-and-diseases/gastroparesis/gastroparesis-treatment)
How is Gastroparesis Treated?
The treatment for gastroparesis in an individual depends on the severity of symptoms. Treatments are aimed at managing symptoms over a long-term.
Treatment approaches may involve one or a combination of:
Some people with gastroparesis have mild symptoms that come and go, which can be managed with dietary and lifestyle measures.
Others have moderate to more severe symptoms that additionally may be treated with medications to stimulate motility and/or reduce nausea and vomiting.
Some people have severe symptoms that are difficult to treat or do not respond to initial treatment approaches. They may require additional procedures to maintain nutrition and/or reduce symptoms.
Goals of Treatment
The goals of treatment are to manage and reduce symptoms, maintain quality of daily living, and minimize related problems such as:
Manage Risk and Benefit
No single treatment helps all persons with gastroparesis. All drugs and procedures have inherent risks, some more than others. Some of the risks are unavoidable, while others can be avoided and managed. For patients and families it is important to talk to the doctor or health care team about both benefit and risk.
As a patient, in the context of your personal illness status, consider:
Gastroparesis is a long-term condition that can impair quality of life and well-being. Living with gastroparesis affects not only those who suffer but also many others, especially family members and friends. It also touches on relationships in the classroom, in the workplace, or in social interactions.
It takes skills and strengths to deal with a challenging digestive condition like gastroparesis. It means being a kind of active researcher, always looking for what does and does not help, hurt, and work best.
It is important to understand the condition and to advocate for better health. If you or a friend or loved one has gastroparesis, it is also important to understand that you are not alone with this diagnosis.
“Gastroparesis is a condition that affects the normal spontaneous movement of the muscles (motility) in your stomach. Ordinarily, strong muscular contractions propel food through your digestive tract. But if you have gastroparesis, your stomach’s motility is slowed down or doesn’t work at all, preventing your stomach from emptying properly.”
MAYO CLINIC (https://www.mayoclinic.org/diseases-conditions/gastroparesis/symptoms-causes/)
Should focus attention on important health messages about gastroparesis diagnosis, treatment, and quality of life issues. The goals include improving understanding of gastroparesis to help patients and families manage the condition, and encouraging preventive strategies.
The number of people with gastroparesis appears to be rising. Yet gastroparesis is poorly understood. More community awareness is needed about the condition.
The more awareness for gastroparesis, the greater the ability to impact positive outcomes, such as additional research and improved patient care for the functional GI and motility disorders.
Gastroparesis is also called delayed gastric emptying. The term “gastric” refers to the stomach.
Normally, the stomach empties its contents in a controlled manner into the small intestines. In gastroparesis, the muscle contractions (motility) that move food along the digestive tract do not work properly and the stomach empties too slowly.
Gastroparesis is characterized by the presence of certain long-term symptoms together with delayed stomach emptying in the absence of any observable obstruction or blockage. The delayed stomach emptying is confirmed by a test.
The signs and symptoms of gastroparesis may differ among persons with the condition. Symptoms usually occur during and after eating a meal.
Symptoms that are characteristic of gastroparesis include:
The symptoms of gastroparesis are similar to those that occur in a number of other illnesses. When symptoms persist over time or keep coming back, it’s time to see a doctor to diagnose the problem. An accurate diagnosis is the starting point for effective treatment.
Diagnosis of gastroparesis begins with a doctor asking about symptoms and past medical and health experiences (history), and then performing a physical exam. Any medications that are being taken need to be disclosed.
Tests will likely be performed as part of the examination. These help to identify or rule out other conditions that might be causing symptoms. Tests also check for anything that may be blocking or obstructing stomach emptying. Examples of these tests include:
If – after review of the symptoms, history, and examination – the doctor suspects gastroparesis, a test to measure how fast the stomach empties is required to confirm the diagnosis.
Slow gastric emptying alone does not correlate directly with a diagnosis of gastroparesis.
There are several different ways to measure the time it takes for food to empty from the stomach into the small intestine. These include scintigraphy, wireless motility capsule, or breath test. Your doctor will provide details of the one chosen.
Gastric Emptying Study (Scintigraphy)
The diagnostic test of choice for gastroparesis is a gastric emptying study (scintigraphy). The test is done in a hospital or specialty center.
It involves eating a bland meal of solid food that contains a small amount of radioative material so that it can be tracked inside the body. The abdomen is scanned over the next few hours to see how quickly the meal passes out of the stomach. A radiologist will interpret the study at periodic intervals after the meal.
A diagnosis of gastroparesis is confirmed when 10% or more of the meal is still in the stomach after 4 hours.
Other methods for measuring gastric emptying include a wireless motility capsule and a breath test.
Wireless Motility Capsule
The ingestible wireless motility capsule (SmartPill) is swallowed and transmits data to a small receiver that the patient carries. The data collected is interpreted by a radiologist. While taking the test, people can go about their daily routine. After a day or two, the disposable capsule is excreted naturally from the body.
Breath Test
The breath test involves eating a meal that contains a nonradioactive component that can be tracked and measured in the breath over a period of hours. The results can then be calculated to determine how quickly the stomach empties.
Stay tune for Part II tomorrow!
“Stevens Johnson Syndrome (SJS) is a life-threatening skin condition in which the loss of skin
cells triggers the epidermis to separate from the dermis. The majority of diagnoses are idiopathic and have no known cause.
Whereas, the principal source of SJS is linked to the adverse effects of certain medications (for some causing a challenge) which can cause ulcers and lesions in the mucous membranes, conjunctivitis, blindness, organ failure, and death.
In the United States, 300 new cases of SJS appear every year. Adult women are twice likely as men to contract the disease.”
Forrest Warren Human Services
(478-Stevens-Johnson-Syndrome-Awareness–Month-PDF)
The Facts About Stevens-Johnson Syndrome (SJS/TEN) as of 2023 through Stevens-Johnson Syndrome Foundation state the following:
“FIRST What is this condition SJS – Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are severe adverse reactions to medication and, in some instances, viruses and mycoplasma pneumonia.
According to the FDA, adverse drug reactions (ADRs) account for 2,216,000 hospitalizations each year that result in injury or death.
SJS is one of the most debilitating ADR’s recognized. It was first discovered in 1922 by pediatricians Albert Stevens and Frank Johnson after diagnosing two children with severe ocular and oral involvement due to drug reactions
Recognition of the early symptoms of SJS and prompt medical attention are the most invaluable tools in minimizing the possible long-term effects of SJS.
-Rash, blisters or red splotches on skin
-Persistent fever
-Blisters in mouth, eyes, ears, nose or genital area
-Swelling of eyelids, red eyes, Conjuctivitis
-Flu-like symptoms
*Have recently taken a prescription or over-the counter (OTC) medication
Target lesions are not always seen in SJS/TEN!
IF YOU NOTICE TWO OR MORE OF THESE SYMPTOMS,
CONTACT A PHYSICIAN IMMEDIATELY!
The offending drug must be stopped immediately to prevent
complications.
Supportive care.
IV fluids and high-calorie formulas are given to promote
healing.
Antibiotics are given when necessary to prevent secondary
infections.
Pain medications are given for comfort.
Most SJS patients are treated in ICU, but TEN patients
should be treated in a burn unit.
Treatments can include the following medications:
-pulse steroids,
-Immunoglobulin (IVIG),
and Cyclosporine therapies.
The doctors to see for this condition:
Dermatologists, ophthalmologists and infectious disease doctors should be consulted.
If ocular involvement occurs, amniotic membrane grafts in the first 3 to 5 days of diagnosis may prevent serious eye damage
-Blindness or Visual impairment
-Photophobia
-Dry eye syndrome
-Lung damage including Asthma
and Chronic Obstructive Pulmonary Disease (COPD)
-Permanent loss of nail beds
-Scarring and hyperpigmentation
-Alopecia
-Arthritis
-Chronic fatigue
These are some of the side effects reported to the Stevens Johnson Syndrome Foundation through their SJS registry fact sheet in 2023.
** Almost any DRUG can cause SJS/TEN, including over-the-counter drugs. SJS and TEN do not discriminate against anyone! Everyone should be aware of adverse drug reactions.
“A new report authored by volunteer researchers and staff of the National Center for Children’s Vision and Eye Health at Prevent Blindness (NCCVEH), titled “Association of Sociodemographic Characteristics with Pediatric Vision Screening and Eye Care: An Analysis of the 2021 National Survey of Children’s Health” in Ophthalmology, found that only 53 percent of U.S. children received a vision screening in 2021. This disparity is even more pronounced among children from disadvantaged backgrounds.
Without early detection and treatment, uncorrected vision disorders can impair healthy development, interfere with learning, and even lead to permanent vision loss. However, vision screening and regular eye care can help detect and treat potentially irreversible vision impairment. Visual functioning is a strong predictor of academic performance in school-age children.”
Prevent Blindness (Prevent Blindness Expresses Concern Over Medicaid Community Engagement and Eligibility Requirements for Visually Impaired – Prevent Blindness)
If you suffer from itchy, red and dry skin you’ve probably tried every cream, ointment and lotion on the market to treat your eczema. But if you’ve tried it all and can’t seem to calm your itchy skin it might be because there’s another skin condition that can have visually similar symptoms and your eczema cream probably won’t work for it. It’s called psoriasis.
Eczema and psoriasis are like twins — they have a similar look, but deep down, they are fundamentally different.
If you suffer from itchy, red and dry skin you’ve probably tried every cream, ointment and lotion on the market to treat your eczema. But if you’ve tried it all and can’t seem to calm your itchy skin it might be because there’s another skin condition that can have visually similar symptoms and your eczema cream probably won’t work for it. It’s called psoriasis.
Eczema and psoriasis are like twins — they have a similar look, but deep down, they are fundamentally different!
You might be thinking: When you’ve got an irritating, itchy spot, who cares about the subtle difference? But this can help you and your dermatologist decide which skin condition you are having.
Dr. Millstein, a physician at Penn Internal Medicine Woodbury Heights, says “Psoriasis tends to cause milder itching and, in some less common types of psoriasis, a terrible burn. Eczema, on the other hand, can lead to very intense itching. When it starts to become severe, some people scratch their skin so hard that it bleeds.”
Both skin diseases can show up anywhere on your body, but they have their own favorite areas.
Psoriasis causes troubles commonly on the:
Eczema can occur in those places, but it most often inflames the skin on the back of the knees or the inside of the elbows.
Although you can get either disease at any age, eczema often affects children while psoriasis usually manifests in early adulthood or later.
If you have eczema, summer might not be your favorite season. Some people with eczema are sensitive to heat. In hot weather, overheating can cause perspiration, which can lead to skin flare.
“However, for most psoriasis patients, abundant natural ultraviolet B (UVB) light from sunshine can be a blessing. UVB light can slow down the abnormal growth of skin cells. It is used as a medical treatment for psoriasis,” says Dr. Millstein.
But remember, too much of a good thing can become damaging. If you go sunbathing without using sunscreen or are exposed to sunlight for too long, overexposure can trigger psoriasis symptoms. If you start to feel itchy or see red spots, get out of the sun. Make sure to talk to your dermatologist about the best amount of time for exposure to the sun.
If you have itchy, red patches on any part of your body that don’t go away with over-the-counter medications, it’s better to see a dermatologist directly. Primary care providers can also help make a diagnosis and manage your symptoms, but a dermatologist has specialized training and extensive experience in recognizing subtleties of the two skin conditions.
The treatments for eczema and psoriasis are similar. Some of the common treatments include:
Eczema and psoriasis can present very differently in each person. Comparing your symptoms to another patient’s won’t always give you the right answer or the best solution for another.
In severe cases, psoriasis can turn into psoriatic arthritis. When this is the case, a medicine such as methotrexate or cyclosporine may be recommended by a doctor to help manage symptoms. Be sure to ask about all potential ointments and creams available to help your skin rashes.
(updated 5/12/24)