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Multiple Endocrine Neoplasia (MEN) Syndromes

Management Team

Multiple Endocrine Neoplasia (MEN) Syndromes

Overview

MEN syndromes are inherited disorders that cause tumours in multiple endocrine glands. There are several types, including MEN1 and MEN2, each associated with specific tumours such as parathyroid, pituitary, and adrenal tumours.

Vary depending on the glands affected and can include hormonal imbalances, fatigue, and weight changes.

  • Genetic testing
  • Hormone level assessments
  • Imaging studies

  • Depends on the tumours present and may include surgery, medications, or other therapies to manage hormone levels and tumour growth.
  • Regular monitoring and early intervention are crucial for managing MEN syndromes.
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Major/Minor Nerve Block Anaesthesia

Management Team

Major/Minor Nerve Block Anaesthesia

Overview

Nerve block procedures are used to prevent pain signals from a specific nerve or group of nerves from reaching the brain, thereby preventing pain from being felt in the area supplied by the target nerve(s). Major and minor nerve blocks are valuable tools in local/regional anaesthesia, providing targeted pain relief for surgeries of varying durations and complexities. While major nerve blocks target larger or more important nerves or nerve plexuses (networks/structures formed by the intermingling of the nerve fibres that provide extensive control over the motor and sensory functions of the body), minor nerve blocks typically target smaller nerves that provide sensation to more specific regions of the body. Therefore, major nerve blocks are typically used for larger (involving large areas of the body) and more complex surgeries that require deep anaesthesia, while minor nerve blocks are used to provide effective anaesthesia for smaller and more localised procedures. The choice between using a major or minor nerve block depends on the type of surgery, the part of the body being treated, and the desired level of anaesthesia.

Both major and minor nerve block procedures offer significant benefits tailored to the scope and complexity of the medical procedure. Major nerve blocks provide extensive and long-lasting pain relief for large body regions, while minor nerve blocks deliver localised and efficient pain control for smaller areas.

  • Patients can remain awake and breathe normally: This feature makes nerve blocks a safer and more efficient option for a variety of surgical procedures, particularly for patients with high anaesthesia risks (e.g., patients with chronic respiratory disease or cardiovascular issues) or those undergoing surgeries in localised regions of the body. This also means faster recovery time.
  • Better post-operative pain control: Both major and minor blocks provide targeted pain relief, which can lead to faster recovery times and better post-surgical comfort. Further, patients require fewer pain-relief medications.
  • Reduced risk of respiratory complications: Individuals undergoing nerve block procedures are at a lower risk of developing complications like aspiration (inhaling stomach contents), breathing difficulties, or post-operative lung infections (lung infections after surgery).
  • No need for tracheal intubation: In general anaesthesia, a breathing tube or other airway device (intubation) is often required as the patient is unconscious, and normal breathing may be suppressed. With nerve blocks, the patient breathes naturally without assistance.
  • Reduced opioid use: Nerve blocks, particularly when combined with other analgesics (pain-relief drugs) help reduce the need for systemic opioids (a class of drugs that reduce pain perception throughout the body), thereby minimizing the risks of opioid-related side effects and addiction.
  • Fewer general anaesthesia side effects: Nerve blocks allow for surgeries to be performed with reduced or no general anaesthesia, thereby lowering the risk of complications associated with general anaesthesia, such as nausea, vomiting, or prolonged sedation.
  • Cancer pain relief: Nerve blocks can relieve pain that is caused as a result of tumours pressing on nerves or other structures. The celiac plexus block is used for abdominal cancers (e.g., pancreatic, gastric, and liver cancer), lumbar sympathetic block is used for relieving pelvic or lower limb pain, and stellate ganglion block is used to relieve cancer-related pain in the head, neck, or upper limbs.

As with other anaesthesia technique, the first step of nerve block procedures also involves apreoperative stage where medical history, medications, allergies, and contraindications to anaesthesia (i.e., specific situations or conditions where administering anaesthesia could pose a significant risk to the patient) are taken into account. The next steps are provided below.

  • Identification of the target nerve: In this step, ultrasound or anatomical landmarks are used to guide the needle toward the target nerve (ultrasound-guided nerve block and palpation, respectively)
  • Needle insertion: The needle is inserted at such a depth an angle that it reaches the target nerve at the appropriate angle.
  • Test anaesthetic injection: Once the needle is in the correct position, a small test dose of the local anaesthetic injected. After confirming proper needle placement (e.g., through ultrasound visualization), The next step is confirmation of block success.
  • Confirmation of block success: This can be done through multiple ways.
    • Sensory testing: This involves testing for loss of sensation in the area served by the blocked nerve (e.g., using cold or touch stimuli).
    • Motor testing: This involves checking for loss of motor function (e.g., limb movement or muscle control).
    • Ultrasound: This involves using visualisation of the spread of the anaesthetic around the nerve as confirmation of block success (ultrasound-guided blocks/ultrasound-guided anaesthesia).
  • Local anaesthetic injection: After confirming block success,the full dose of the anaesthetic is injectedaround the target nerve(s) ensuring loss of sensation and movement in the area to be operate.
  • Post-procedure care: This involves monitoring for any side effects or complications (e.g., hematoma (blood leakage from blood vessels into the surrounding tissue), nerve injury, or allergic reactions to the anaesthetic). Additionally, pain control and follow-up might be needed on a case-by-case basis.
    • Pain control: Additional analgesics (pain-relief medications) might be needed after the nerve block procedure to manage any residual discomfort.
    • Follow-up: It is ensured that the block wears off safely, and the patient is assessed for any delayed complications.

While nerve block anaesthesia is generally safe, it is associated with some risks, which can range from mild, temporary issues like bruising or headache to more serious complications like nerve injury, infection, or cardiac problems. The risks depend on the type of block, the location, the technique used, and the patient's overall health.

  • Local complications:
    • Infection: Although rare, any invasive procedure, including a nerve block, carries the risk of infection at the needle insertion site.
    • Hematoma: Bleeding can occur at the injection site or around the nerve, leading to a collection of blood (hematoma), which can cause swelling, bruising, and pressure on surrounding structures.
    • Nerve injury: Accidental damage to the nerve being targeted—or surrounding nerves—may result in temporary, or very rarely, permanent loss of sensation or motor function.
    • Local anaesthetic toxicity: If too much anaesthetic is injected—or if it is accidentally injected into a blood vessel—local anaesthetic toxicity can occur. Symptoms include ringing in the ears, metallic taste in the mouth, dizziness, cardiac arrhythmias (irregular heartbeat), and in rare cases, seizures.
    • Nerve puncture: In rare cases, the needle may accidentally puncture the nerve or cause direct trauma, which may result in pain, weakness, or loss of sensation.
  • Systemic complications:
    • Allergic reaction to the anaesthetic: Though uncommon, some patients may have an allergic reaction to the local anaesthetic. This might result in symptoms like rash, swelling, or more severe reactions (e.g., anaphylaxis).
    • Accidental intravenous injection: If the needle is placed in or near a blood vessel, the anaesthetic might be inadvertently injected into the bloodstream, potentially causing systemic effects like dizziness, seizures, or irregular heartbeat.
    • Respiratory depression or paralysis: Certain blocks, especially those around the neck or spinal cord (e.g., epidural, cervical blocks) might affect respiratory function or cause paralysis if the anaesthetic spreads to unintended areas (e.g., the diaphragm or spinal cord).
  • Complications specific to certain blocks:
    • Pneumothorax: Accidental puncture of the lung while performing interscalene or supraclavicular blocks can result in the leakage of air from the lungs into the space between the lung and chest wall (pleural space), causing a collapsed lung (pneumothorax), which may require immediate intervention.
    • Diaphragm paralysis: If the anaesthetic spreads to the phrenic nerve when performing the phrenic nerve block, it can cause diaphragm paralysis, resulting in respiratory difficulty.
    • Weakness and clot formation: Motor nerve blocks like femoral or sciatic nerve blocks can cause temporary weakness or loss of movement in the affected limb, which typically resolves once the anaesthetic wears off. Additionally, the femoral artery or vein could be accidentally punctured during the procedure, leading to bleeding or clot formation.
    • Low blood pressure (hypotension) and injury to other structures: The celiac plexus controls many abdominal organs and can blocking the same can potentially lead to a drop in blood pressure (hypotension). Further, accidental damage to nearby organs, such as the kidneys or liver, is also possible during the procedure.
  • Other potential risks:
    • Block failure: In some cases, the nerve block may not provide complete pain relief. This can happen if the anaesthetic is not delivered correctly, or if the nerve is not adequately targeted.
    • Post-operative pain: Some patients may experience delayed pain or residual discomfort after the block wears off, especially if the block was only partially successful.
    • Psychological effects: In rare cases, patients may experience anxiety or psychological distress due to the nerve block procedure, particularly if they have a fear of needles or medical procedures.
  • Long-term complications (rare):
    • Chronic nerve pain: In rare cases, nerve blocks can lead to chronic pain or neuropathy as a result of nerve damage or irritation from the anaesthetic injection.
    • Fibrosis or scarring: Over time, scarring or fibrosis at the injection site may occur, potentially leading to difficulties with future procedures.
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Monitored Anaesthesia Care (MAC) without Sedation

Management Team

Monitored Anaesthesia Care (MAC) without Sedation

Overview

Monitored anaesthesia care (MAC) without sedation is an approach where patients remain awake and alert during a procedure—owing to their not receiving sedation (induction of a state of relaxation or drowsiness in a patient, typically through the use of medications) or general anaesthesia—while receiving careful monitoring of vital signs and localised anaesthesia for pain management. However, the anaesthesiologist may administer local anaesthetics (for pain control) or other drugs to alleviate anxiety and discomfort, without causing sleepiness or loss of consciousness. The main focus in MAC without sedation is on maintaining the patient’s safety and well-being throughout the procedure. MAC without sedation can be used for various procedures like minor or minimally invasive surgeries (e.g., endoscopies, biopsies, or dental procedures), diagnostic procedures (e.g., colonoscopies), plastic or reconstructive surgeries, and cardiac and vascular interventions, i.e., medical procedures aimed at diagnosing, treating, or managing conditions that affect the heart and blood vessels (e.g., angiograms).

Though MAC without sedation is not always feasible or appropriate for all patients, particularly those undergoing complex or invasive procedures, it offers several benefits in terms of recovery, communication, and complication risks. The same have been enumerated below.

  • Reduced risk of sedation-related complications: Sedation—particularly in critically ill patients—can lead to complications such as respiratory depression (a condition where breathing becomes slow and shallow—or in more severe cases—stops altogether), low blood pressure (hypotension), or delirium (especially in older adults). Avoiding or minimizing sedation reduces these risks. In the absence of sedation, other side effects that can arise from the depressant effects of sedative medications are also avoided.
  • Improved patient monitoring and interaction: Patients who remain awake can communicate their symptoms, feelings, or discomfort to medical staff. For example, patients may notice adverse reactions early, such as chest pain, shortness of breath, or dizziness, and can immediately report them, aiding quicker diagnosis and treatment.
  • Reduced recovery time: Quicker recovery from the surgical/diagnostic procedure is ensured as the patients undergoing MAC with sedation are awake and alert. The absence of sedation often means that patients experience less grogginess or fewer delays in cognitive function.
  • Enhanced psychological well-being: For some patients, being aware and in control during treatment provides a sense of normalcy and reduces the psychological impact of being unconscious such as anxiety.
  • Shorter hospital stay: Not needing to recover from sedation or anaesthesia can contribute to a shorter hospital stay. This is particularly important in the context of intensive care, where reducing time in the hospital is beneficial for overall patient care and cost-effectiveness.
  • Lower risk of drug dependence or interaction: By not using sedatives, patients avoid the risks associated with the prolonged use of sedative medications, such as dependence, withdrawal, or drug interactions that can complicate other aspects of their care.

Though MAC without sedation can be beneficial in certain circumstances (e.g., when it is crucial for the patient to remain aware or to avoid sedation-related complications), it comes with its own set of risks and challenges. Careful patient selection and meticulous monitoring are necessary to ensure that the procedure goes smoothly and to mitigate these potential complications. Risks associated with MAC without sedation have been provided below.

  • Anxiety and discomfort: Some patients may experience significant anxiety or emotional distress from being awake during a procedure, especially if it is invasive. This may lead to tachycardia (increased heartbeat), hypertension (high blood pressure), and an overall feeling of discomfort.
  • Inadequate pain relief: Local anaesthesia might not provide complete pain relief for some patients, especially in those undergoing more complex or invasive procedures. In the absence of sedation, patients may experience discomfort or pain, which can make the procedure difficult for both the patient and the medical team.
  • Psychological effects: Remaining awake during surgery or medical procedures can sometimes lead to panic attacks, claustrophobia, or trauma if the patient finds the environment overwhelming.
  • Difficulty managing patient movement: If the patient is awake, there is a greater chance of involuntary movement or jerking, which could interfere with the procedure. Even small movements can compromise the success or safety of delicate procedures (e.g., in case of bone or eye surgeries).
  • Vocalisations: Some patients may show signs of distress by crying or shouting, which can complicate the procedure or cause discomfort for both the patient and the medical staff.
  • Risk of inadequate monitoring of anxiety or pain: If the patient is awake, medical professionals may focus on monitoring the local anaesthesia and other vital signs but might miss subtle signs of increased stress or discomfort if not properly assessed.
  • Nausea or vomiting: Some patients may experience nausea or vomiting even without sedation, particularly if they are anxious or have a sensitive stomach. Nausea and vomiting can lead to a risk of aspiration (inhalation of vomit into the lungs), which could cause a serious condition called aspiration pneumonia.
  • Respiratory or cardiovascular effects: Stress and anxiety can lead to increased heart rate, elevated blood pressure and heart rate, and even respiratory changes, which could complicate the procedure, especially in patients with underlying heart or lung conditions.
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Mild/Moderate Deep Procedural Sedation

Management Team

Mild/Moderate Deep Procedural Sedation

Overview

Sedation is a much lighter form of general anaesthesia that is often combined with a local or (loco)regional anaesthesia. Mild to moderate deep procedural sedation refers to the continuum of sedation levels used to manage pain, anxiety, and awareness during medical or diagnostic procedures. Each level corresponds to a varying degree of consciousness and responsiveness, and the sedation depth is carefully adjusted to meet the needs of the procedure and the patient's comfort. In mild sedation (minimal sedation), the patient is fully awake and responsive, but relaxed and calm. The level of sedation helps ease anxiety without significantly impairing cognitive or physical function. In moderate sedation (conscious sedation), the sedation level is such that the patient is drowsy but can still respond purposefully to verbal commands or light touch. Therefore, it is used for procedures that may be uncomfortable or mildly painful.

Mild to moderate deep procedural sedation offers numerous benefits for both patients and healthcare providers by balancing comfort, safety, and effectiveness. Here are the key benefits of this technique:

  • Pain and anxiety relief: Mild to moderate deep procedural sedation is associated with reduced pain and anxiety during the surgical/diagnostic procedure as it involves the use of sedatives (sleep-inducing medications that also reduce anxiety) and analgesics (pain relief medication).
  • Patient comfort: Sedated patients are less aware of the procedure. Additionally, many sedatives cause partial or complete memory loss with respect to the procedure, thereby reducing psychological trauma. Thus, mild to moderate deep procedural sedation ensures that patients experience less discomfort.
  • Enhanced procedure tolerance: Sedated patients remain relaxed and immobile (still), allowing physicians to perform procedures more accurately and efficiently. This feature enables procedures that might otherwise require general anaesthesia.
  • Faster recovery: Compared to general anaesthesia, mild to moderate sedation has fewer residual effects, allowing a quicker return to normal activities.
  • Patient safety: In mild and moderate sedation, patients can respond to verbal commands, reducing the risk of over-sedation, which could lead to respiratory depression (a condition where breathing becomes slow and shallow—or in more severe cases—stops altogether) or unconsciousness, both of which are common in deep sedation and general anaesthesia.
  • Airway protection: As the patient is awake or lightly sedated in case of mild to moderate deep procedural sedation, protective airway reflexes (e.g., swallowing and coughing) remain intact; this reduces the risk of aspiration (inhalation of stomach contents into the lungs) or airway obstruction. Further, unlike deep sedation or general anaesthesia, mild and moderate sedation rarely require airway support, such as intubation, which carry their own risks (e.g., trauma to the airway, infection, or vocal cord injury).
  • Reduced hospital stay: Mild to moderate deep procedural sedation requires fewer resources (e.g., no need for intubation or advanced airway equipment) and is often performed in outpatient or same-day surgery settings. This ensures reduced hospital stay.
  • Versatility: Mild to moderate deep procedural sedation can be used with a wide range of procedures (diagnostic, therapeutic, or minor surgical interventions) as sedation depth can be adjusted to meet specific procedure and patient needs.
  • Patient cooperation: In mild or moderate sedation, patients can respond to instructions or feedback, which is beneficial for procedures requiring interaction (e.g., certain diagnostic tests).

The technique for mild to moderate sedation emphasises patient preparation, careful drug titration, continuous monitoring, and prompt intervention to ensure safety and effectiveness throughout the procedure. It requires a skilled team and the ability to adjust the sedation level based on patient needs and responses. As with all anaesthesia techniques, the first step in mild to moderate sedation is evaluation of patient history, allergies, and contraindications with the sedative and anaesthetic). The subsequent steps have been provided below.

  • Continuous monitoring: The patient’s vital signs are continuously monitored to ensure safety.
  • Establishment of intravenous access: Intravenous access is established for medication administration and emergency interventions.
  • Sedative and analgesic administration: First appropriate anaesthetics and sedatives are chosen based on the effect needed during the procedure. This is followed by dose titration where a small dose of the drug is first injected into the bloodstream; the dose is then incrementally increased until the desired sedation level (state of semi-consciousness) is achieved (mild or moderate). In case, sedative gases or volatile agents are used, they are delivered to the lungs through a mask or nasal hood.
  • Airway management: The patient is placed in a comfortable position, while ensuring the head and neck are aligned to maintain an open airway.
  • Continuous monitoring during sedation: When sedation is underway, the patient is observed for signs of respiratory depression (e.g., shallow breathing, low oxygen saturation) and haemodynamic instability (e.g., low blood pressure or low heartbeat).
  • Recovery and post-procedure care: The patient is monitored till the vital signs become stable and there are no cognitive issues. Patients are provided guidance for post-sedation care and asked to avoid activities like driving for 24 hours.

Moderate to mild sedation during anaesthesia is generally safe when administered by trained professionals, but it carries some risks. These risks are typically less severe than those associated with deep sedation or general anaesthesia. Here is an overview of the potential risks:

  • Respiratory complications:
    • Respiratory depression: The sedatives can cause slow or shallow breathing (respiratory depression), potentially leading to low oxygen levels.
    • Airway obstruction: The tongue or soft tissues may partially block the airway, especially in supine positions.
    • Hypoxia: Blood oxygen levels might decrease if breathing is not adequately monitored or supported.
  • Cardiovascular effects:
    • Hypotension: Sedative-induced vasodilation (expansion of the blood vessels) can lead to a drop in blood pressure (hypotension).
    • Bradycardia: Certain drugs (e.g., opioids) lead to a slower-than-normal heart rate (bradycardia).
    • Arrhythmias: In rare cases, sedation may trigger irregular heartbeats (arrhythmias), especially in patients with pre-existing heart conditions.
  • Allergic reactions: In rare cases, allergic reactions to sedative or analgesic agents are possible; these can range from mild rash to anaphylaxis (severe allergic reaction).
  • Over-sedation: Excessive sedation might cause difficulty in arousing the patient, leading to unintended deeper sedation and associated risks like respiratory depression.
  • Nausea and vomiting: These are common side effects of sedatives and anaesthetics. They can lead to aspiration (inhalation of stomach contents into the lungs) if airway reflexes are not fully intact.
  • Psychological effects:
    • Paradoxical reactions: In rare cases, patients may experience agitation, restlessness, or emotional distress upon sedation (e.g., sedation with benzodiazepines).
    • Amnesia: While often intended, memory loss can sometimes cause distress for patients after the procedure.
  • Rare but serious risks:
    • Aspiration pneumonia: Inhalation of stomach contents is a possibility if the airway reflexes are impaired.
    • Seizures: These are uncommon but possible in patients with predisposing conditions.
    • Oversedation to unconsciousness: If improperly managed, sedation may progress to a deeper level than intended (unconsciousness).
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Metabolic Bone Diseases

Management Team

Metabolic Bone Diseases

Overview

Throughout our lives, the bones of our body are continuously undergoing changes, with new bone cells replacing old cells every 10 years. Metabolic bone diseases encompass a range of conditions that influence bone mass, growth, and turnover. These conditions can lead to weakened bone, bone loss, and increased risk of fractures. Mineral imbalances (such as excessive or insufficient calcium, phosphorus, or vitamin D) can hinder with bone strength.

Osteoporosis is the most prevalent metabolic bone disease, impacting approximately 200 million individuals globally. It results in decreased bone mass, causing bone weakness and increased risk of fractures.

Osteopenia represents a milder form of low bone density. Other metabolic bone disorders include hyperparathyroidism, Cushing’s syndrome or prolonged steroid intake, hypophosphatasia, and Paget’s disease.

Symptoms of metabolic bone diseases can differ from person to person and may include:

  • A noticeable decrease in height (shortening by at least one inch)
  • Fractured bones
  • Changes in posture (stooping or bending forward)
  • Difficulty walking
  • Pain in bones or hips
  • Muscle weakness
  • Lower back pain

It is crucial to note that osteoporosis is often asymptomatic, meaning it typically does not cause pain.

Healthcare providers perform blood tests to assess levels of calcium, phosphorus, and vitamin D. For example, low levels of calcium, vitamin D, or phosphorus may indicate osteomalacia. Low blood alkaline phosphatase levels combined with elevated vitamin B6 levels may suggest hypophosphatasia.

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Male Infertility

Management Team

Male Infertility

Overview

Male infertility refers to the inability of males to conceive a child owing to issues with sperm production, function, or delivery.

Genetic factors, hormonal imbalances, lifestyle factors, and medical conditions affecting the reproductive system.

difficulty conceiving despite regular, unprotected intercourse. Please consult a doctor if you have been trying to conceive for a year without success through regular, unprotected intercourse.

Semen analysis for sperm count evaluation, motility, and morphology, as well as hormonal tests and imaging studies.

Depends on the underlying causative factors and may involve lifestyle changes, medications to improve sperm production, or surgical interventions to address structural problems. Assisted reproductive techniques like in vitro fertilisation (IVF) can also help achieve pregnancy.

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6-Minute Walk Test (6MWT)

Management Team

6-Minute Walk Test (6MWT)

Overview

The 6-Minute Walk Test (6MWT) is a simple and practical test used to assess a person's aerobic capacity and endurance. It measures the distance an individual can walk quickly on a flat, hard surface in six minutes.

  • Check oxygen desaturation while walking.
  • Evaluate functional capacity.
  • Assess exercise tolerance.
  • Monitor the response to medical interventions.
  • Predict morbidity and mortality.

After explaining the procedure in detail, the baseline vitals of the patients are noted. Then, the patient is asked to walk on a flat surface and his/her pulse and oxygen saturation are monitored simultaneously. The patient can take a break/stop if he/she feels tired and/or breathless. Once six minutes are completed, the patients’ vitals are checked again and the total distance walked is measured.

  • The total distance walked is compared with normative data based on age, sex, and health status.
  • A shorter distance walked may indicate reduced functional capacity, which could be due to various conditions, such as cardiovascular or pulmonary diseases, musculoskeletal problems, or general deconditioning.
  • A fall in the oxygen level usually indicates a lung pathology.
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Male Hypogonadism

Management Team

Male Hypogonadism

Overview

Male hypogonadism refers to a condition wherein insufficient amounts of testosterone (hormone responsible for male sexual development and reproductive function) are produced by the testes. It can be congenital or acquired due to injury, infection, or other medical conditions.

Reduced muscle mass, fatigue, decreased libido, and infertility.

Measuring testosterone levels through blood tests and assessing symptoms and medical history.

Testosterone replacement therapy to restore normal levels, which can improve symptoms and overall quality of life. If fertility is a concern, additional treatments like gonadotropin injections may be used to stimulate sperm production.

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Myoclonus

Management Team

Myoclonus

Overview

Myoclonus is a sudden shock-like involuntary movement, which can be sudden contraction of muscle (positive myoclonus) or a pause in muscle activity (negative myoclonus or asterixis). The following types of myoclonuses have been determined:

  • Based on distribution
    • Generalized
    • Focal
    • Multifocal
    • Segmental
  • Based on clinical presentation
    • Spontaneous
    • Action
    • Reflex (auditory, visual, or to touch)
  • Based on site of origin:
    • Cortical myoclonus- myoclonic jerks triggered by movement or stimulus-sensitive. EEG may be diagnostic: cortical discharges time-locked to myoclonic jerks; giant cortical somatosensory evoked potentials
    • Brainstem myoclonus- bilateral synchronous jerking with adduction of arms, flexion of elbows, flexion of trunk and head. Stimulus-induced: tap nose, lip, or head or loud noise
    • Spinal cord- rhythmic, repetitive, bilateral, jerking one or two adjacent parts

  • Physiological- hypnic jerks and hiccup
  • Epilepsy- focal epilepsy (Epilepsia partialis continua), myoclonic epilepsies-progressive myoclonic epilepsy (Unverricht–Lundborg disease)
  • Encephalopathy: metabolic (liver, renal failure)
  • Infections: prion diseases, HIV, SSPE
  • Post-anoxic
  • Drugs: tricyclics, L-dopa
  • Degenerative conditions: Alzheimer’s disease, MSA, corticobasal degeneration, celiac disease
  • Hereditary: HD, mitochondrial disorders, myoclonic dystonia (DYT 11), storage disorders
  • Focal lesions brain or spinal cord

  • Nervous system disorders such as multiple sclerosis, epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease
  • Brain or spinal cord injuries, brain tumours, or strokes
  • Infections such as meningitis or encephalitis
  • Prolonged oxygen deprivation to the brain (hypoxia)
  • Family history
  • Certain medications like anticonvulsants
  • Other conditions such as kidney or liver failure, chemical or drug intoxication, metabolic disorders, or autoimmune inflammatory conditions

Neurologist

Medical treatment is initiated per clinician’s evaluation and underlying cause

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Myasthenia Gravis (MG)

Management Team

Myasthenia Gravis (MG)

Overview

MG is a neuromuscular disorder, whose prevalence peaks at 20–30 years or 60–70 years of age. MG is characterized by fatiguability, where initial part of movement can be done smoothly and then the power decreases on continued activity.

  • Generation of autoantibodies against acetylcholine receptors at the neuromuscular junction  and MuSK, LRP, ryanodine, and titin proteins. This leads to failure of conduction of action potential from nerve to muscle, leading to weakness.
  • Thymus is abnormal in 75% of patients: hyperplasia (85%) and thymoma (15%)
  • Other autoimmune conditions associated with MG are thyroiditis, Graves’s disease, rheumatoid arthritis, systemic lupus erythematosus, pernicious anaemia, Addison’s disease, and vitiligo.

  • Certain genetic markers, such as HLA-B8 and DR3
  • Autoimmune disorders such as lupus, rheumatoid arthritis, or thyroid disease
  • Infants of mothers with myasthenia gravis may develop neonatal myasthenia gravis
  • Smoking
  • Medications including antimalarials, certain antibiotics, and medications used to treat heart rhythm irregularities

  • Painless muscle weakness following exercise
  • In 15–20% cases, only the ocular muscles are involved, whereas in 85% of the cases, the weakness is generalized
  • Other presenting features include dysphagia (6%), dysarthria and dysphonia (5%), jaw weakness (4%), and neck weakness (1%).
  • Rarely, respiratory failure and isolated foot drop may be presented
  • Exacerbation of weakness by drugs (aminoglycosides, quinine, anti-arrhythmic drugs)

Neurologist

  • Clinical suspicion should guide further investigations
  • Antibody panel- Anti acetylcholine receptor antibody, anti-Musk antibody, anti LRP antibodies
  • Repetitive nerve stimulation- sensitive in 50–60% of cases (see chapter 6)
  • Single fibre EMG studies- detect delay or failed neurotransmission in pairs of muscle fibres supplied by a single nerve fibre
  • Tensilon (edrophonium) test- uses a rapid onset (30 seconds) short-acting (5 minutes) cholinesterase inhibitor drug. An unequivocal improvement in a muscle is considered a positive result
  • Post-contrast CT or MRI of the mediastinum to check for thymoma
  • Other tests such as thyroid function and thyroid antibodies test among others may be needed

  • Cholinesterase inhibitors
  • Immunomodulators
  • Supportive treatment with calcium, bisphosphonates, vitamin D, and antacids
  • Immunosuppressants may be used as steroid sparing agents
  • Blood tests (FBC and LFT) necessary every week for 2 months and then 3 monthly for the duration of treatment to monitor immunosuppression
  • Plasma exchange and IV immunoglobulin given in cases of sudden deterioration with impending respiratory failure, dysphagia, severe worsening of weakness for immediate relief of symptoms (myasthenia crisis)
  • Thymectomy when thymoma is found in CT chest to eliminate the source of abnormal antibodies.
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