Multiple sclerosis

Multiple sclerosis (MS) is a chronic autoimmune disease that affects the central nervous system (CNS), including the brain, spinal cord and optic nerve. In MS, the immune system mistakenly attacks the protective coating of nerve fibers called myelin, causing inflammation and damage. The exact cause of MS is unknown and it is thought to be a complex disease influenced by genetic, environmental and immune factors

Types of multiple sclerosis

There are four main types of MS, depending on the course and progression of symptoms

1.Relapsing-remitting MS (RRMS):

This is the most common form of MS, accounting for about 85% of cases. It is characterized by episodes of new or worsening symptoms (relapses) followed by periods of partial or complete recovery (remissions). During remission, symptoms may improve or disappear completely.

2.Secondary progressive MS (SPMS):

People with RRMS at onset often develop SPMS. Over time, the disease shifts to a more stable, progressive form, with fewer relapses but continued neurological decline.

3.Primary progressive MS (PPMS):

In PPMS there are no clear relapses or remissions and symptoms progressively worsen from onset; PPMS is uncommon and affects about 10-15% of people with MS.

4.Progressive relapsing MS (PRMS):

This is the rarest form of the disease, with symptoms progressively worsening from onset, but with occasional acute relapses; unlike PPMS, there are periods when symptoms relapse.

Causes and risk factors:

The exact cause of multiple sclerosis is unknown, but genetic predisposition, environmental triggers and immune system dysfunction are thought to be involved. Some possible factors include

1.Heredity:

MS is not directly inherited, but a family history of MS increases the risk. Some genetic markers, especially those associated with the immune system (such as the HLA-DRB1 gene), are associated with a higher risk of developing MS.

2.Environmental factors:

• Vitamin D deficiency: As MS is more common in areas far from the equator, researchers believe that low levels of sunlight (and therefore low vitamin D) may increase susceptibility to MS.
• Infections: Some studies suggest that viral infections such as Epstein-Barr virus (EBV) may be associated with the development of MS, but the mechanisms are not fully understood.
• Smoking: Smoking has been shown to increase the risk of developing MS and exacerbate disease progression. 
• Gender: Women are two to three times more likely to develop MS than men.

Symptoms of multiple sclerosis:

MS symptoms vary greatly depending on the location and extent of damage to the central nervous system. Common symptoms include:

• Fatigue: One of the most common symptoms, often expressed as an overwhelming feeling of fatigue that is not commensurate with activity levels.
• Numbness or tingling: Often occurring in the face, arms, legs and trunk, this is a common early symptom of MS.
• Muscle weakness: MS can cause muscle weakness in the legs and arms, making walking, lifting or fine motor tasks difficult.
• Difficulty walking (gait problems): MS can affect coordination and balance, causing problems with walking and standing.
• Vision problems: inflammation of the optic nerve (optic neuritis) can cause blurred or double vision, partial loss of vision and pain during eye movements.
• Spasticity: muscle stiffness and spasm (especially in the lower limbs) can hinder movement and comfort.
• Dizziness and rotational vertigo: Some people with MS experience dizziness, lightheadedness and rotational vertigo (rotational dizziness).
• Bladder and bowel dysfunction: Many people with MS experience urinary urgency, frequency and incontinence. Bowel problems such as constipation are also common. Cognitive changes: Some people with MS develop impairments in memory, attention, problem solving and information processing skills.
• Depression and mood changes: Emotional changes such as depression, anxiety and mood swings are common in MS and can be associated with both the course of the disease and its psychological effects.
• Pain: Neuropathic pain, such as sharp stabbing or burning sensations, can be caused by nerve damage. Muscle pain and spasms are also common.

Diagnosis of multiple sclerosis:

Diagnosing MS can be difficult because its symptoms can resemble those of other diseases. A comprehensive evaluation includes

• History taking and neurological examination: The doctor will assess symptoms and check reflexes, coordination, balance and other neurological functions.
• Magnetic resonance imaging (MRI): An MRI scan is an important diagnostic tool for MS; it can detect demyelinated (lesioned) areas in the brain and spinal cord that are characteristic of MS.
• Lumbar puncture (spinal tap): This test involves taking a sample of cerebrospinal fluid (CSF) and looking for abnormal immune proteins (oligoclonal bands) often found in MS patients.
• Evoked potential test: This test measures the electrical activity of the brain in response to a stimulus. A delayed response may indicate myelin damage.
• Blood tests: There are no MS-specific blood tests, but they are often done to rule out other conditions that can cause similar symptoms.

Treatment of multiple sclerosis:

There is no cure for MS, but treatment can reduce symptoms, slow disease progression and improve quality of life. Treatment approaches include

1.Disease modifying therapies (DMTs):

These agents aim to reduce the frequency and severity of relapses, slow the progression of disability and limit new lesions in the CNS. Common DMTs include:

• Interferon-β (e.g. Avonex, Rebif)
• Glatiramer acetate (Copaxone)
• fingolimod (Gilenya)
• Ocrelizumab (Ocrevus)
• Natalizumab (Tysabri)
• Dimethyl fumarate (Tecfidera)

The choice of treatment depends on the type of MS, the severity of the disease and the general condition of the patient.

2.Corticosteroids:

High-dose corticosteroids such as methylprednisolone are often used to reduce inflammation during MS relapses. They can shorten the duration of relapses but do not affect long-term disease progression.

3.Physiotherapy and rehabilitation:

Physiotherapy, occupational therapy and speech therapy help maintain mobility, manage fatigue and adapt to the physical changes caused by MS. Rehabilitation programs focus on improving muscle strength, flexibility and coordination.

4.Symptom management:

Medicines and therapies can be used to manage certain symptoms, including

Fatigue: fatigue: amantadine or modafinil may be effective in reducing fatigue.
Spasticity: muscle relaxants such as baclofen or tizanidine may relieve muscle stiffness.
Pain: Anticonvulsants (e.g. gabapentin) or antidepressants (e.g. amitriptyline) may be effective for neuropathic pain.
Bladder dysfunction: medications such as oxybutynin may be effective in reducing urinary urgency.

5.Lifestyle modification:

Regular exercise, a balanced diet and stress management can help manage symptoms and improve overall health. As low vitamin D levels are associated with MS, vitamin D supplements are often recommended.

Prognosis.

The prognosis for MS is variable. Although the disease causes significant disability in some people, many people with MS live long and fulfilling lives. The course of the disease is unpredictable; some people have mild symptoms and long periods of remission, while others have more advanced disease progression. Advances in treatment, particularly disease-modifying therapies, have significantly improved the outlook for people with MS.

Epilepsy

Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures caused by abnormal electrical activity in the brain. Seizures vary in type and severity and can occur at any age. Epilepsy is one of the most common neurological disorders, affecting about 1% of the world's population.

Causes of epilepsy:

The causes of epilepsy fall into several categories, but in many patients the cause is unknown (idiopathic epilepsy). Possible causes include the following

Genetic factors:

• Some types of epilepsy are caused by genetic mutations. These genetic mutations affect the function of nerve cells, making them more prone to epileptic seizures. Genetic causes of epilepsy can run in families, but a family history of epilepsy does not necessarily mean that a person will develop the disease.

Brain damage:

• Traumatic brain injury (TBI) caused by an accident, fall or violence can cause epilepsy. This is called post-traumatic epilepsy and can develop immediately after the injury or years later.

Stroke :

• Stroke is the main cause of epilepsy in older people. Stroke occurs when blood flow to the brain is disrupted, damaging brain tissue and causing epileptic seizures.

Infections:

• Infections that affect the brain, such as meningitis, encephalitis and HIV, can inflame and damage brain cells and cause epilepsy.

Developmental disorders:

• Some conditions that affect brain development, such as autism spectrum disorders and neurofibromatosis, can increase the risk of epilepsy.

Tumors:

• Brain tumors, whether cancerous or benign, can disrupt the brain's electrical activity and trigger epileptic seizures.

Prenatal injury:

• Prenatal damage to the brain, such as oxygen deprivation (hypoxia), maternal infection or maternal malnutrition, can increase the risk of epilepsy in the child.

Metabolic or nutritional disorders:

• Conditions such as low blood sugar (hypoglycemia), dehydration and electrolyte imbalances can cause epileptic seizures, especially in vulnerable individuals.

Types of seizures:

Epileptic seizures can be divided into two main categories depending on where and how they start in the brain

1.Focal (partial) seizures:

Seizures start in a specific part of the brain. These can be further divided into

• Focal seizures (formerly known as simple partial seizures): the person is conscious but may experience unusual sensations, movements or emotions.
• Focal disorientation seizures (formerly known as complex partial seizures): consciousness changes or is disturbed, and the person appears confused or unresponsive.

2. Generalized seizures:

Involve both sides of the brain from the onset and usually affect consciousness. Types include:

 Absence seizures (small seizures): Characterized by short periods of staring or dizziness. These seizures usually last only a few seconds and are more common in children.

 Tonic-clonic seizures (large seizures): the best known type with convulsions, muscle rigidity and loss of consciousness. The patient may cry, collapse or become immobilized.

 Myoclonic seizures: short, shock-like contractions of a muscle or group of muscles. 

 Atonic seizures: sudden loss of muscle tone, resulting in collapse or falling.

Tonic seizures: sudden stiffening of muscles.

 Clonic seizures: repeated jerking movements.

Diagnosis of epilepsy:

A diagnosis of epilepsy usually requires a comprehensive evaluation that includes

History: a detailed history, including when the seizures started, seizure frequency and possible triggering factors.

Neurological examination: to determine the presence or absence of neurological problems.

Electroencephalography (EEG): EEG records the electrical activity of the brain and can detect abnormal patterns associated with seizures. Imaging studies:

Magnetic resonance imaging (MRI) or computed tomography (CT): can be used to look for structural brain abnormalities such as tumors, strokes or malformations.

Blood tests: Can help rule out conditions such as metabolic abnormalities that trigger epileptic seizures.

Epilepsy treatment:

Epilepsy is not always curable, but it can often be effectively managed with treatment. Treatment options include the following

Medication:

Anti-epileptic drugs (AEDs) are the most common treatment for epilepsy and can control seizures in about 70% of patients. Common AEDs include phenytoin, carbamazepine, valproate, levetiracetam and lamotrigine. The choice of medication depends on the type of seizure, the age of the patient and other factors.

Surgery:

If seizures cannot be controlled with medication (drug-resistant epilepsy), surgical treatment may be preferred. The surgery aims to remove or replace the part of the brain where the seizures started. Temporal lobectomy is one of the most common epilepsy surgeries.

Vagus nerve stimulation (VNS):

VNS involves implanting a device that sends electrical impulses to the vagus nerve in the neck. This stimulation can reduce the frequency and severity of seizures.

Ketogenic diet:

This high-fat, low-carbohydrate diet may be recommended for children with difficult-to-treat epilepsy. The ketogenic diet changes brain energy metabolism and helps reduce epileptic seizures.

Reactive nerve stimulation (RNS):

A device implanted in the brain detects abnormal electrical activity and provides electrical stimulation to prevent seizures from occurring.

Seizure triggers:

Certain factors and conditions can trigger seizures in people with epilepsy. Common triggers include

• lack of sleep
• Stress
• Alcohol or drug use
• Flashing lights or patterns (photosensitive epilepsy)
• Fever or illness
• Hormonal changes (e.g. during menstruation)
• Forgetting to take medication

First aid during a seizure :

It is important to know how to help a person when they have a seizure:

• Make sure the person is protected from danger by staying calm and moving nearby objects away from them.
• Have the person lie on their side to secure their airway, especially if they are having a tonic-clonic seizure.
• Do not hold the person or put anything in their mouth.
• Time the seizure: call an ambulance if the seizure lasts longer than 5 minutes or if the person has more than one seizure without regaining consciousness.

Prognosis:

The prognosis for epilepsy depends on the type of epilepsy, its cause and response to treatment. Many people with epilepsy can successfully control their seizures with medication and other treatments and lead a relatively normal life. In some children, especially those with absence seizures or benign epilepsy, epilepsy can go into remission. However, epilepsy is a lifelong condition and may require ongoing management.

Parkinson's disease

Parkinson's disease is a progressive neurological disorder that primarily affects movement. Parkinson's disease is caused by the gradual destruction or death of cranial nerve cells (neurons) in a region called the substantia nigra.

These neurons produce dopamine, a neurotransmitter that regulates movement and coordination. When dopamine levels decrease, the characteristic symptoms of Parkinson's disease develop.

The main symptoms of Parkinson's disease :

• Tremor: Often the first symptom to be noticed, tremors usually start in the hands, fingers or limbs, especially when the muscles are at rest. This is known as 'resting tremor'.
• Bradykinesia (slow movement): Voluntary movement slows down in Parkinson's disease. Simple tasks may take longer or movement may be more difficult to initiate.
• Muscle stiffness: muscle stiffness can limit range of motion, cause discomfort and make it difficult to perform activities such as walking or standing up.
• Posture and balance difficulties: As the disease progresses, posture may deteriorate and balance problems may increase, increasing the risk of falls.
• Gait changes: Many people with Parkinson's develop a shuffling gait with short steps. Over time, some experience a 'freezing of movement' where their feet feel as if they are stuck to the ground.
• Decreased facial expressions: Known as 'masked faces' or hypesthesia, people with Parkinson's may experience less spontaneous facial expressions and blinking.
• Changes in speech and writing: In Parkinson's disease, speech may become softer, monotonous or slurred. Handwriting may also become smaller or cramped.

Non-motor symptoms:

In addition to motor symptoms, non-motor symptoms can occur in Parkinson's disease, including

1. Sleep disorders: difficulty falling or staying asleep, vivid dreams, restless leg syndrome, etc.
2. Mood disorders: depression, anxiety and apathy are common.
3. Cognitive impairment: mild cognitive dysfunction may be present and may progress to dementia.
4. Autonomic dysfunction: problems with blood pressure, digestion, bladder control and sweating.

Causes and risk factors:

The exact cause of Parkinson's disease is unknown, but several factors are possible

1. Heredity: Heredity: About 10-15% of people with Parkinson's disease are associated with genetic mutations. Having a close relative with Parkinson's disease slightly increases the risk of developing the disease.
2. Environmental factors: Exposure to toxins such as pesticides, herbicides and heavy metals is associated with an increased risk of Parkinson's disease.
3. Age: Parkinson's disease usually develops in people over the age of 60, but in rare cases it can develop earlier (early onset Parkinson's disease).
4. Gender: Men are more likely to develop Parkinson's disease than women.

Diagnosis:

There is no specific test for Parkinson's disease. The diagnosis is based on history, symptoms and neurological examination. In some cases, imaging tests such as MRI or DaTscan (a specialized imaging test for dopamine function) may be performed to rule out other diseases.

Treatment:

There is no cure for Parkinson's disease, but treatment can reduce symptoms: 

  1.Medication: The mainstay of treatment is medication to increase dopamine levels in the brain:

• Levodopa: the most effective treatment, often combined with carbidopa to prevent side effects such as nausea.
• Dopamine agonists: Drugs that mimic the action of dopamine in the brain.
• MAO-B inhibitors: Drugs that prevent the breakdown of dopamine in the brain.

2. Deep brain stimulation (DBS): A surgical option for patients with advanced Parkinson's disease, in which electrodes are placed in specific areas of the brain to reduce symptoms such as tremors and rigidity.

3. Physiotherapy: Exercise can help improve balance, flexibility and overall mobility. Speech therapy may be needed to address speech and swallowing problems. Lifestyle changes: maintaining a healthy diet, maintaining physical activity and managing stress improve quality of life.

Prognosis:

The progression of Parkinson's disease is different for everyone. Parkinson's is a chronic degenerative disease, but many people live with Parkinson's for many years with the help of treatments to manage symptoms. Over time, motor and non-motor symptoms may worsen, but with ongoing medical care and treatment adjustments, quality of life can be optimized.