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MS severity: Genetic markers may lead to better treatment.

MS severity: Genetic markers may lead to better treatment.

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Globally, 2.8 million people will have Multiple Sclerosis (MS) in 2020. The symptoms of MS can worsen over time and result in chronic problems, and the condition presently has no known cure.

The first genetic indicator of MS severity and progression has been identified by researchers at the University of California, San Francisco.

This discovery, according to scientists, may help in the creation of new medications that can delay the advancement of the illness.

Multiple sclerosis (MS), a condition of the central nervous system that affects mobility and vision, will impact roughly 2.8 million individuals worldwide by the year 2020.

MS presently has no known cure. Each person is uniquely affected by the illness, both in terms of when symptoms initially appear and how severe they are.

The severity of the illness can worsen as the body experiences a cycle of symptom flare-ups and remissions, resulting in persistent mobility problems, visual loss, and even partial or complete paralysis.

The first genetic signature connected to MS severity and progression has now been identified by researchers from the University of California, San Francisco.

This discovery, according to scientists, may help in the creation of new medications that can delay the advancement of the illness.

Research targets MS progression

The University of California, San Francisco’s Dr. Sergio Baranzini, professor of neurology and co-senior author of the study, explained that they chose to look for a genetic variation associated with faster MS progression because the disease develops differently in each patient after diagnosis.

“Neurological progression is a common feature in persons with MS, which is inexorable and independent of whether relapses are controlled or not,” he said.

“Some people have a very aggressive disease that can impact their mobility and neurological function in a few years, while others experience a much more benign course,” he said. We already knew that genetics has a significant influence on risk, but the wide range of outcomes revealed that genetics may also affect severity.

Data from The MultipleMS Consortium and The International Multiple Sclerosis Genetics Consortium (IMSGC), two sizable MS research consortiums, were used by Dr. Baranzini and his team.

For a genome-wide association study (GWAS), data from both groups were pooled to represent more than 12,500 MS patients.

From there, researchers combed through more than 7.5 million genetic variants before discovering one linked to accelerated disease progression in MS patients.

This particular mutation is situated between two genes named DYSF and ZNF638 that had no known association with MS. ZNF638 aids in the control of viral infections whereas DYSF aids in the restoration of damaged cells.

Possibility of new treatments for MS

Since there is currently no treatment for MS, doctors employ a variety of drugs to treat the symptoms, delay the disease’s course, and help avoid relapses.

The results of this study, according to Dr. Baranzini, will open the door for a new class of medicines that will treat progression and probably target the central nervous system.

Dr. Baranzini made the point that genetic information considerably reduces the risks associated with drug development because developing medicines represents a considerable risk for the pharmaceutical business, where only a tiny percentage of drugs reach the market.

“This discovery will set up several development programs that will target the unmet need of disease progression in MS,” he said.

“All relapse-controlling medications are immunomodulatory, which is consistent with the genetics of the more than 200 MS risk variations. The central nervous system should be the target of this new class of therapies, according to the genetics of illness severity.”

Dr. Baranzini explained that since it has been proven that genetics contribute to the severity of an illness, the IMSGC is currently preparing for a new genetic study including even more participants.

The researcher continued, “Our prior experience with disease susceptibility suggests that a larger study translates into more findings, and we are pleased to uncover new genetic variants that could aid in the development of more efficient treatments for MS.”

How is MS being treated right now?

The capacity to move, think, talk, and see clearly can all be significantly impacted by MS since it affects the brain and nerve system.

The majority of scientists concur that MS is caused by the body’s immune system wrongly attacking the central nervous system, even though the exact origin of MS is still unknown.

The myelin that wraps the nerve fibres in the brain and spinal cord is damaged by this onslaught. When myelin is destroyed, it is unable to protect the exposed nerve fibre, which prevents messages from travelling from the nerves to the brain.

Additional MS risk factors include:

  • age – between the ages of 20 and 50, most persons acquire a diagnosis
  • MS is more prevalent in women than in men.
  • an MS family history
  • smoking
  • a lack of vitamin B12 or vitamin D
  • exposure to specific viral illnesses, such as mononucleosis or the Epstein-Barr virus

Why the recent study is beneficial?

We discussed the significance of the study with Dr. Krupa Pandey, director of clinical research at the Neurosciences Institute in New Jersey, director of the Hackensack University Medical Centre MS Centre, and associate professor of neurology at the Hackensack Meridian School of Medicine who was not involved in the current investigation.

She said, “There are a few ways in which this study is helpful. Finding a connection between genes and the potential severity of a disease is a positive step.”

“It is also beneficial since it offers more proof that environmental variables, like smoking, truly do assist people with genetically susceptible diseases to get sicker. This is a fantastic illustration of how a disease may be affected by both nature and upbringing, said Dr. Pandey.

The expert went on to say that similar discoveries “may lead to future findings that can help us counsel patients on how to tailor not just medication regimens but modify lifestyle-related factors.”

“It is also helpful for companies looking at MS therapies [to] enroll patients with higher risks for progression to see if the drug is effective,” she said.

REFERENCES:

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Causes and treatment for irritating Eye twitching.

Causes and treatment for irritating Eye twitching.

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Myokymia, or twitching of the eyelids, can be brought on by dry eyes, eye irritation, eye strain, lack of sleep, or an excessive amount of caffeine. Eyelid spasms that are severe or persistent could be symptoms of various diseases.

Myokymia, often known as an eyelid twitch, is a recurrent, uncontrollable spasm of the eyelid muscles. Although it can happen in either the upper or lower lids, a twitch typically happens in the upper lid.

These spasms are typically minor and feel like a slight tugging on the eyelid. Some people may have a spasm that is severe enough to make both eyelids totally close. These spasms normally last for a minute or two and happen every few seconds.

Eyelid twitching episodes might happen at any time. It’s possible for the twitch to come and go for several days. After that, you might not twitch for several weeks or even months.

Although the twitches are usually mild and unharmful, you could find them annoying. Most spasms will go away on their own, rarely requiring medical intervention.

When they are accompanied by additional face twitches or uncontrollable movements, eyelid spasms can occasionally be a sign of a persistent movement problem.

Types of eyelid twitches

Three types of eyelid twitching can be distinguished:

  • General eyelid spasm
  • essential blepharospasm
  • hemifacial spasm

General eyelid spasm

Eyelid spasms occasionally are deemed normal and don’t always signify a major issue. These twitches can be caused by a number of environmental causes and typically go away when you rest. You might want to discuss your symptoms with your doctor if these twitches persist and interfere with your daily activities.

Benign essential blepharospasm

You can have benign essential blepharospasm, which is the terminology for persistent and involuntary winking or blinking, if the spasms become chronic (long-term).

Usually affecting both eyes, this illness is more prevalent in women than in men. Up to 50,000 Americans may be affected by it, and it often appears in middle to late adulthood. Over time, the condition is likely to get worse and may lead to:

  • hazy vision
  • increased light sensitivity
  • facial twitches

Hemifacial spasm

When only one eye is affected by the eyelid twitch, a hemifacial spasm may be present. This particular spasm is a neuromuscular problem that is typically brought on by a blood vessel placing too much pressure on a facial nerve.

In addition to being more prevalent in Asian people, this illness affects women more frequently than it does men. Untreated, it could result in:

  • eye twitching that occurs often and without control
  • not being able to open your eye
  • your entire facial muscles on one side start to twitch.

What causes eyelid twitches?

There are many different reasons why eyelids could twitch. Talking to your doctor about this symptom could be helpful if it is causing you any trouble.

Eyelid twitching or spasms could be brought on by or aggravated by:

  • corneal abrasion, eye strain, or irritation
  • irritations caused by the environment, such as wind, bright lights, the sun, or air pollution
  • weariness or little sleep
  • physical effort or tension
  • usage of coffee, cigarettes, or alcohol
  • wet eyes
  • adverse effects of medicine
  • sensitivity to light
  • Uveitis, or swelling of your eye’s middle layer
  • Eyelid inflammation is known as blepharitis.
  • Pinkeye, or conjunctivitis
  • migraine attacks

Complications of eyelid twitches

Rarely are spasms of the eyelids a sign of a more severe brain or nerve problem. These more serious illnesses nearly typically come with other symptoms in addition to eyelid twitching.

The following brain and nerve conditions might produce eyelid twitches:

  • Bell’s palsy, also known as facial palsy, is a disorder that makes one side of your face droop downward.
  • Dytonia, which results in sporadic muscle spasms and twisting or contorting of the bodily part in question
  • Due to cervical dystonia (spasmodic torticollis), your neck may occasionally spasm and your head may occasionally twist in an uncomfortable manner.
  • Multiple sclerosis (MS), a condition of the central nervous system that impairs movement and cognition and produces exhaustion and eye twitching
  • Parkinson’s disease, which can result in shaky limbs, rigid muscles, balance issues, and speech difficulties
  • Involuntary movements and verbal tics are hallmarks of the Tourette syndrome.

Eye Twitching Treatment

The majority of mild twitches vanish on their own. Getting enough sleep and limiting coffee, alcohol, and tobacco use may be beneficial. Try over-the-counter artificial tears if your eyes are dry or irritated.

Benign essential blepharospasm cannot be cured. However, your physician can provide symptom relief. Botulinum toxin is the most widely utilised therapy (Botox, Dysport, Xeomin). Hemifacial spasms are also treated by it.

To reduce the spasms, your doctor will inject little quantities into your eye muscles. The effect gradually fades away after a few months. You’ll require multiple treatments.

Your doctor might recommend drugs such as:

  • Clonazepam (Klonopin)
  • Lorazepam (Ativan)
  • Hydrochloride of trichexyphenidyl (Artane, Trihexane, Tritane)

These typically provide only transient comfort.

Alternative therapies consist of:

  • Biofeedback
  • Acupuncture
  • Hypnosis
  • Chiropractic
  • Nutritional treatment
  • coloured glasses

These therapies haven’t been shown to be effective in scientific trials. Your doctor might recommend surgery in some circumstances. Some of the muscles and nerves that surround your eyelid are removed during a treatment known as a myectomy.

A hemifacial spasm is brought on by pressure from an artery on your facial nerve, which can be relieved through surgery. The effects are long-lasting. However, there is always a potential of problems with surgery.

Eye Twitch prevention

Try keeping a notebook and documenting when your eyelid spasms occur if they are happening more regularly.

Take note of how much caffeine, alcohol, and tobacco you consume, as well as your level of stress and the amount of sleep you have been obtaining in the days before and during the eyelid twitching.

Try going to bed 30 minutes to an hour earlier if you notice that you experience more spasms when you don’t get enough sleep to help relieve the strain on your eyes and lessen your spasms.

REFERENCES:

  • https://www.healthline.com/health/eyelid-twitch
  • https://www.mayoclinic.org/symptoms/eye-twitching/basics/causes/sym-20050838
  • https://www.webmd.com/eye-health/why-your-eyes-twitch
  • https://my.clevelandclinic.org/health/symptoms/17663-eye-twitching

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Explore the body functions affected by Multiple Sclerosis.

Explore the body functions affected by Multiple Sclerosis.

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Your nerves are impacted by multiple sclerosis, which manifests as symptoms including weariness, trouble walking, and speech problems. There is currently no cure, however there are a number of therapies that can help you manage the symptoms.

A persistent disorder affecting your central nervous system is called multiple sclerosis (MS). Your immune system destroys myelin, the covering that surrounds nerve fibres, when you have MS.

Inflammation and transient lesions are brought on by MS. Additionally, it may result in long-lasting lesions brought on by scar tissue, making it challenging for your brain to communicate with the rest of your body. MS cannot be cured, but symptoms can be controlled.

What is Multiple Sclerosis?

Although they are unsure of the actual cause of MS, researchers think it is an autoimmune condition that affects the central nervous system (CNS). The immune system assaults healthy tissue when a person has an autoimmune disease, just as it could attack a virus or bacteria.

In MS, inflammation results from the immune system attacking the myelin sheath, which covers and shields the nerve fibres. The nerves’ ability to swiftly and effectively conduct electrical signals is enabled by myelin.

“Scar tissue in numerous sites” is what multiple sclerosis signifies. Sclerosis, or a scar, results from the myelin sheath disappearing or being damaged in several places. These regions are also referred to by doctors as plaques or lesions. They mostly impact:

  • the cerebral stem
  • the cerebellum, which controls balance and movement coordination,
  • spinal cord
  • ocular nerves
  • Some brain areas have white matter.

Nerve fibres may rupture or suffer damage as more lesions appear. The electrical impulses from the brain do not reach the target nerve smoothly as a result. This implies that the body is unable to do some tasks.

Types of MS and stages

Multiple sclerosis comes in four different forms:

  • Clinically isolated syndrome (CIS): When someone experiences their first bout of MS symptoms, medical professionals frequently classify it as CIS. Multiple sclerosis does not always develop in CIS patients.
  • Relapsing-remitting MS (RRMS): It is the most prevalent type. Relapses or exacerbations, which are other terms for flare-ups of new or worsened symptoms, are common in people with RRMS. Following are times of remission (when symptoms stabilise or go away).
  • Primary progressive MS (PPMS): People with PPMS experience symptoms that slowly deteriorate over time without experiencing any relapses or remissions.
  • Secondary progressive MS (SPMS): People with RRMS who subsequently develop SPMS are commonly diagnosed with SPMS. Multiple sclerosis that is secondary-progressive causes ongoing nerve damage. Your symptoms get worse with time. You no longer have periods of remission following relapses or flares (when symptoms worsen), even if you may still have some of these (when symptoms stabilise or go away).

Causes of Multiple Sclerosis

Experts are still unsure about the precise cause of multiple sclerosis. To assist pinpoint the disease’s underlying causes, research is ongoing. Several things can cause MS, such as:

Exposure to specific viruses or bacteria: According to some studies, MS may develop later in life if a person is exposed to particular illnesses (such as the Epstein-Barr virus).

Your residence: Your chance of acquiring MS may be influenced by your environment. The prevalence of the disease is noticeably higher in some regions of the world than others. MS is more prevalent in regions that are farthest from the equator. That might be because the sun doesn’t shine as brightly in certain areas. A risk factor for MS development is reduced vitamin D levels in people who spend less time in the sun.

Multiple sclerosis is an autoimmune disease, which affects the way your immune system works. Researchers are trying to determine why immune cells in some people attack healthy cells inadvertently.

Gene mutations: Having an MS-afflicted family member does enhance your likelihood of developing the condition. However, it is still unknown precisely how and which genes contribute to the onset of multiple sclerosis.

Early signs and symptoms

MS symptoms can appear in any part of the body since the CNS, which regulates all bodily processes, is affected by the disease.

The most typical signs of MS include:

Weak muscles:

People may experience weak muscles as a result of inactivity or stimulation brought on by nerve injury.

One of the first signs of MS is Numbness and tingling, which can affect the face, body, arms, and legs and feel like pins and needles.

Lhermitte’s sign:

When a person moves their neck, they could feel an electric shock-like sensation; this is referred to as Lhermitte’s sign.

Bladder issues:

Urge incontinence, or the sudden or frequent need to urinate, can make it difficult for a person to empty their bladder. An early indication of MS is losing control of one’s bladder.

Bowel issues:

Fecal impaction brought on by constipation might result in bowel incontinence.

One of the most typical symptoms of MS is fatigue, which can make it difficult for a person to perform at work or at home.

Along with balance and coordination impairments, vertigo and dizziness are frequent ailments.

Sexual dysfunction:

Both sexes may become uninterested in having sex.

Muscle spasms and stiffness:

are early signs of MS. Painful muscle spasms, particularly those in the legs, can be brought on by damage to the nerve fibres in the spinal cord and brain.

Tremor:

Some MS patients may have uncontrollable trembling.

Having trouble seeing:

Some people may have double, blurry, or even complete loss of eyesight. One eye is typically affected at a time by this. When the eye moves, pain due to optic nerve inflammation may be experienced. Vision issues are a precursor to MS.

Changes in gait and mobility:

MS can alter a person’s gait owing to muscle weakness, issues with balance, weariness, and dizziness.

Depression and emotional changes:

Demyelination and brain nerve fibre loss can cause emotional alterations.

Memory and learning issues:

These can make it difficult to focus, prioritise, learn, plan, and multitask.

Pain:

MS patients frequently experience pain. While localised pain may be brought on by muscle stiffness or spasticity, neuropathic pain is directly related to MS.

Less frequent signs include:

  • headaches
  • loss of hearing
  • itching
  • breathing or respiratory issues
  • seizures
  • speaking issues
  • swallowing difficulties

Additionally, there is a greater chance of losing mobility, diminished activity, and urinary tract infections. A person’s career and social life may be impacted by these.

Risk factors for MS

There is still no known cause for MS. There are, however, a number of risk factors for MS development.

These risk elements consist of:

  • having a family member with MS
  • obesity
  • some infections
  • smoking
  • a few autoimmune diseases, including type 1 diabetes and rheumatoid arthritis

How is multiple sclerosis (MS) managed or treated?

MS presently has no known cure. The main goals of treatment are to control symptoms, lessen relapses (times when symptoms return), and reduce the disease’s course. Your detailed treatment programme can include:

  • Disease-modifying treatments (DMTs): The FDA has approved a number of drugs for the long-term treatment of multiple sclerosis (MS). These medications lessen relapses (also called flare-ups or attacks). They impede the spread of the illness. Additionally, they can stop the growth of new lesions on the spinal cord and brain.
  • Relapse prevention drugs: Your neurologist could advise a high dosage of corticosteroids if you experience a severe attack. The drug has a rapid anti-inflammatory effect. They mitigate harm to your nerve cells’ protective myelin coating.
  • Physical therapy: Multiple sclerosis might impair your physical capabilities. Maintaining your physical fitness and strength will assist your mobility.
  • Counseling for mental health: Managing a chronic illness can be emotionally taxing. Furthermore, MS might occasionally impair your mood and memory. A crucial component of treating the condition is working with a neuropsychologist or receiving other emotional assistance.

REFREENCES:

  • https://www.healthline.com/health/multiple-sclerosis
  • https://www.medicalnewstoday.com/articles/37556
  • https://my.clevelandclinic.org/health/diseases/17248-multiple-sclerosis
  • https://www.webmd.com/multiple-sclerosis/guide/what-is-multiple-sclerosis
  • https://www.mayoclinic.org/diseases-conditions/multiple-sclerosis/symptoms-causes/syc-20350269

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What are the initial signs of having dementia?

What are the initial signs of having dementia?

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When a group of symptoms significantly interfere with day-to-day functioning, including memory, thinking, and social skills, it is referred to as dementia. There are many conditions that can cause dementia, even if there isn’t one specific illness that does.

Memory loss is a common symptom of dementia, but it can have many different causes. Memory loss alone does not necessarily indicate dementia, despite the fact that it is frequently one of the first symptoms of the illness.

The most frequent cause of a progressive dementia in older persons is Alzheimer’s disease, although there are several other dementia-related conditions as well. Some dementia symptoms could be reversible, depending on the underlying reason.

Types of Dementia

Although some of these dementias are treatable, they cannot be reversed:

  • Alzheimer’s condition
  • arterial dementia
  • Parkinson’s disease and other conditions that can cause dementia
  • Mental illness with Lewy bodies
  • Dementia frontotemporal (Pick’s disease)
  • Creutzfeldt-Jakob disease

Depending on which area of the brain is affected, dementia can be divided into two categories.

Problems with the cerebral cortex, the brain’s outer layer, create cortical dementias. They are essential for language and memory. These varieties of dementia are characterised by significant memory loss, inability to understand language or remember words. The cortical dementias Creutzfeldt-Jakob disease and Alzheimer’s are two examples.

Subcortical dementia: Problems in the areas of the brain below the cortex create subcortical dementias. It patients frequently experience alterations in their capacity to initiate tasks and their rate of thought. People with subcortical dementia typically do not have forgetfulness or linguistic difficulties. These forms of dementia can be brought on by Parkinson’s disease, Huntington’s disease, and HIV.

Some dementias have an impact on both hemispheres of the brain. Lewy Body dementia, for instance, has both cortical and subcortical components.

Other Types of Memory Loss vs. Dementia

The transient disorientation or amnesia that could be caused by an infection that goes away on its own without treatment is not dementia. It might also result from an underlying condition or a drug’s negative effects. Typically, dementia gets worse with time.

Initial Causes of Dementia

The following are the dementia’s most typical causes:

Neurological illnesses that progress over time. These consist of:

Over time, these illnesses worsen.

Vascular conditions. The circulation of blood to your brain is impacted by these diseases.

  • Traumatic brain injuries brought on by traffic collisions, slips and falls, concussions, etc.
  • central nerve system infections Meningitis, HIV, and Creutzfeldt-Jakob disease are a few of these.
  • long-term usage of drugs or alcohol
  • many forms of hydrocephalus, a fluid collection in the brain

Dementia can have reversible causes, such as:

  • Alcoholism or other drug abuse
  • Tumors
  • Blood clots that form beneath the brain’s covering, known as subdural hematomas
  • A collection of fluid in the brain known as normal-pressure hydrocephalus
  • metabolic diseases like a lack of vitamin B12
  • Hypothyroidism, the medical term for low thyroid hormone levels.
  • Hypoglycemia, a term for low blood sugar.
  • HIV-associated neurocognitive disorders (HAND)

Initial symptoms of dementia

Dementia affects a person’s capacity to manage their daily life since it impairs their ability to think and remember.

Some warning indicators include the following:

  • Problems with short-term memory, such as forgetting where you put something or repeatedly asking the same subject
  • difficulties with words coming to mind during communication
  • Losing direction
  • difficulty with complex but common chores, such as preparing food or paying expenses
  • Mood swings, despair, agitation, and other personality changes

Stages of Dementia

Dementia often progresses through these stages. However, it might differ according on the part of the brain that is afflicted.

  1. No disability: A person in this stage won’t exhibit any symptoms, although tests could find a problem.
  2. Very mild decline: Your loved one will remain autonomous, though you could observe subtle behavioural changes.
  3. A slight drop: More shifts in their logic and way of thinking will become apparent. They could struggle with creating plans and frequently speak in the same way. They could also struggle to recall recent occurrences.
  4. Modest deterioration: They’ll struggle harder to remember recent events and make plans. Traveling and managing money may be difficult for them.
  5. Moderately severe decline: They might not be able to recall their phone number or the names of their grandchildren. They can be uncertain of the time or the day of the week. They will now require assistance with some fundamental daily tasks, like choosing what to dress.
  6. Significant drop: They’ll start to lose track of their spouse’s name. Both eating and using the restroom will require assistance. Additionally, their emotions and demeanour may have changed.
  7. Extremely rapid fall. They are unable to express their ideas verbally. They are unable to walk and will be in bed for the majority of the day.

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