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Monthly Archives: August 2025

Niemann-Pick disease type C

Aug 30, 2025 Posted by admin Gastroenterology, Neurology, Psychiatry, Pulmonology, Therapists 0 comments

Overview

Niemann-Pick disease type C (NPC) is a slowly progressive lysosomal disorder whose principal manifestations are age dependent. The manifestations in the perinatal period and infancy are predominantly visceral, with hepatosplenomegaly, jaundice, and (in some instances) pulmonary infiltrates. Symptoms are progressive and vary by age, but typically include visceral issues like liver and spleen enlargement in early life, followed by neurological and psychiatric symptoms such as difficulty with coordination, speaking, swallowing, learning, and seizures. Treatment focuses on supportive care and managing symptoms, as there is no cure.

Cause

  • NPC is caused by mutations in the NPC1 or NPC2 genes, which are responsible for producing proteins that help transport cholesterol within cells. 
  • The resulting inability to move and use cholesterol and other lipids leads to their excessive buildup, particularly in the lysosomes and late endosomes of cells. 

Symptoms

Symptoms are progressive and can vary widely depending on the patient’s age at onset.

Early-onset

  • Primarily visceral symptoms, including: 

  • Jaundice 
  • Enlargement of the liver and spleen (hepatosplenomegaly) 
  • In some cases, pulmonary infiltrates 

Late-onset 

Predominantly neurological and psychiatric symptoms, such as: 

  • Neurological: Clumsiness, difficulty with coordination, loss of balance, slurred speech (dysarthria), trouble swallowing (dysphagia), progressive dementia, seizures, and vertical supranuclear gaze palsy (difficulty moving the eyes up and down). 
  • Psychiatric: Behavioral problems, depression, and even psychosis. 

Diagnosis 

  • Diagnosis is made through gene sequencing or genetic testing to identify mutations in the NPC1 or NPC2 genes.
  • It may also be confirmed by metabolic studies or other tests that reveal the characteristic lipid storage in cells.

Management

  • No Cure: There is no cure for NPC, and treatments are limited to supportive care. 
  • Symptomatic Treatment: Medications can be used to manage specific symptoms, such as neurological or behavioral issues. 
  • Multidisciplinary Care: Management involves a team of specialists who provide supportive therapies, including occupational therapy, to improve posture, movement, and speech. NPC is a relentless, progressive disease that ultimately leads to death. 
  • The lifespan of affected individuals varies greatly, from a few days in some cases to over 60 years, although most patients die between the ages of 10 and 25

To conclude if you come across anyone battling with disease untreatable in your country can share the latest medical reports via email query@gtsmeditour.com and get the best assistance.

Team,

GTS

Myokymia/ Eye twitching

Aug 30, 2025 Posted by admin General Health, Ophthalmology, Uncategorized 0 comments

Overview

Eyelid myokymia makes your eyelids twitch or involuntary muscle movement can be seen on skin and if you don’t know why, it’s natural to feel confused or concerned. This condition is extremely common, especially under certain circumstances. But fortunately, it’s also usually nothing to worry about. And even when it’s due to more serious conditions, the twitching is usually very treatable. It is often triggered by stress, fatigue, poor nutrition, or excessive caffeine intake. While typically self-limiting, lasting a few days or weeks, persistent or severe cases may warrant medical attention.Myokymia is usually a minor, temporary concern. Most cases go away within days or weeks without any treatment. But sometimes, eyelid myokymia becomes more than just an annoyance and starts interfering with your work or other parts of your daily routine. Treatment may also be an option if you have myokymia that happens consistently for at least three months.

Symptoms

The main symptom of eyelid myokymia is a twitching you can feel (and you can probably see it if you look in a mirror while it happens). Myokymia twitches usually last only seconds to minutes, but they can last hours for some people. In rare cases, they can become constant.

The twitches are usually:

  • Slow
  • Constant
  • Gentle
  • Rippling (almost like waves on water)

Myokymia usually affects just one eye at a time, but it can affect both. You can have it in your upper or lower eyelids, but lower is more common. In rare cases, it will affect both the upper and lower eyelids of the same eye. Myokymia can sometimes also cause nystagmus (when the eyelid twitching also makes your eyeball move).

Causes

Some of the most common causes of myokymia include:

  • Being tired or sleep-deprived
  • Caffeine intake (especially if you have too much)
  • Nicotine use
  • Dry eyes
  • Severe fatigue or overexerting yourself
  • Stress

Diagnosis

An eye care specialist/Optholmologist or other provider can usually diagnose eyelid myokymia with a simple physical exam and a neurological exam. These exams let your provider watch the twitching happen and diagnose it or rule out other causes based on what they see.

When myokymia is longer-lasting, more disruptive or starts spreading and getting worse, your eye specialist or other provider will likely recommend other tests. These are usually imaging tests like CT scans or MRIs.

Treatment

The most common treatment approaches include:

  • Changing things that could cause or contribute to your myokymia. Some simple examples include limiting how much caffeine you consume, managing your stress or making sure to get enough quality sleep. Limiting alcohol intake and reducing or quitting nicotine (including smoking and vaping, or smokeless forms like chewing tobacco or snuff) may also help. These can also reduce your risk of developing myokymia in the first place.
  • Medication changes. If you’re having myokymia because of a medication, your provider may recommend changing to another.
  • Medication injections. The most common medication treatments for myokymia are neurotoxins like onabotulinumtoxinA (Botox®). They temporarily block nerve signals traveling to your eyelids. The injection points are all around your eye, just underneath your skin, and this doesn’t involve any injections into your eye itself. These medications paralyze the related muscles, keeping the twitching from happening entirely until the effect wears off.

Eyelid myokymia is usually nothing to worry about. For most people, it’s a minor condition and isn’t enough to affect their usual routines and activities. The twitching from myokymia often lasts only a few seconds to minutes, and it’ll probably go away if you resolve the potential causes or contributing factors like lack of sleep or caffeine intake.

But if eyelid myokymia doesn’t go away after a few weeks or it’s disrupting your life, it’s a good idea to talk to an eye care specialist or your primary care provider. They can help figure out what might be causing your myokymia or refer you to a provider who can diagnose and treat it.

If you have any big concerns related to health you can connect us via email : query@gtsmeditour.com.

Tetanus (Lockjaw)

Aug 10, 2025 Posted by admin General 0 comments

Overview

Tetanus is commonly known as lockjaw. Tetanus is an infection caused by bacteria called Clostridium tetani (C. tetani), that are found in the environment. It isn’t the rust on that nail or sharp bit of metal that causes tetanus. That rust just means it could have tetanus-causing bacteria on it. Tetanus is an uncommon but very serious disease of the nervous system causes muscle contractions, particularly of your jaw and neck muscles, that requires immediate treatment in a hospital. Tetanus is preventable, and timely treatment can spare you from this  deadly disease. Immediate and good wound care can help prevent infection. Tetanus vaccination can save your life. People who receive at least three doses of the tetanus vaccine almost always survive this disease. And even partial vaccination can make your case less severe. Tetanus is a risk that you can easily avoid with the right medical care. If you think you might need a tetanus booster shot, talk to your healthcare provider or visit an urgent care clinic. An urgent care facility or your primary care provider’s office can give you the booster at the same time as treating your injury.

Symptoms

Symptoms typically occur between 3 and 21 days (average 8 days) after someone is exposed to C. tetani.

The first sign is most commonly spasms of the jaw muscles, or “lockjaw.”

Other symptoms can include:

  • Trouble swallowing
  • Sudden, involuntary muscle spasms — often in the stomach
  • Painful muscle stiffness all over the body
  • Seizures (jerking or staring)
  • Headache
  • Fever and sweating
  • Changes in blood pressure and heart rate

Causes

Tetanus happens because of a toxin that C. tetani bacteria make. That’s why tetanus doesn’t spread person-to-person.

Tetanus-causing germs can enter a wound in either a spore or bacilli (active bacteria) form. The spore form is harder to kill, and it can survive boiling water. The spores live in soil, especially soil with manure mixed in. It’s easier for this bacteria to get into deeper cuts and punctures. And tetanus with deeper wounds is often more severe.

Some ways you can get this bacteria in a wound include:

  • Broken bones that break through your skin (compound fractures)
  • Burns
  • Crush injuries that break skin
  • Dental infections
  • Insect bites and dog bites that get contaminated
  • Surgical wounds
  • Using contaminated needles or medical instruments
  • Minor injuries that can happen around the house, like cuts and scrapes or stepping on a nail

While wounds are the usual entry point, many people don’t remember getting the wound that caused tetanus for them. Research shows that up to half of all cases don’t have an identifiable wound or infection site that experts can pinpoint.

Tetanus, a serious bacterial infection, has four main clinical types:

  • Generalized Tetanus:

            This is the most common form, characterized by widespread muscle spasms and rigidity, particularly in the jaw         (lockjaw), neck, and back. 

  • Localized Tetanus:
    Muscle spasms are restricted to the area around the site of infection. This form can sometimes progress to generalized tetanus. 
  • Cephalic Tetanus:
    Affects the cranial nerves, leading to facial muscle spasms and weakness, often alongside lockjaw. 
  • Neonatal Tetanus:
    Occurs in newborns, typically within the first 28 days of life, and is characterized by difficulty feeding, excessive crying, and generalized muscle stiffness.

Diagnosis

Healthcare providers usually decide if someone has tetanus by looking for common signs and symptoms. They may also ask about a recent history of cuts, scrapes, punctures, and trauma. No lab or other kinds of tests can confirm tetanus.

Treatment and recovery

Tetanus is a medical emergency requiring:

  • Evaluation and care in the hospital
  • Immediate treatment with TIG
  • Aggressive wound care
  • Drugs to control muscle spasms
  • Antibiotics
  • Tetanus vaccination

Conclusion

Tetanus is a severe, life-threatening condition. But with proper treatment, most people recover. Most people develop symptoms about a week after the bacteria get into their body. But it can happen as quickly as two days or as long as three weeks after.

The muscle spasms from tetanus will start around where they entered your body. You’ll then develop muscle spasms in the muscles around your eyes and trouble opening your jaw. The spasms can be painful and typically spread downward to your neck and back.

Your healthcare team will prioritize keeping your airway open using intubation. Once that’s done, they’ll start treating your other symptoms. That includes making you as comfortable as possible with medications to dampen muscle spasms and manage any pain you have.

Tetanus can vary depending on many factors. Your healthcare provider can tell you more about what you’re likely to experience. They can also guide you on what you can do to help yourself as you recover. But in general, with proper treatment, the odds of survival with tetanus are good.

Further if your nearones or dearones are looking for treatment abroad you can connect via email media@gtsmeditour.com and share all the latest reports of the patient and get a medical opinion for the same at zero cost and treatment plan assistance, accomodation etc.

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