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Multisystem Atrophy (MSA)

Management Team

Multisystem Atrophy (MSA)

Overview

Multisystem atrophy is a progressive neurodegenerative disease, which affects the autonomic system and the motor system.

MSA is caused due to deposition of abnormal synuclein protein (synucleinopathy) in the brain.

  • Genetic variations in certain genes including SNCA and LRRK2
  • Age group: 50-60 years
  • Male sex
  • History of neurological conditions such as Parkinson's disease
  • Vascular risk factors including hypertension, diabetes mellitus, hyperlipidaemia,
  • Exposure to solvents, certain types of plastic or metal, and other potential toxins
  • Rapid eye movement (REM) sleep behaviour disorder
  • Autonomic nervous system conditions

  • Autonomic disturbances such as postural hypotension and urinary incontinence
  • Parkinsonian signs such as bradykinesia and rigidity
  • Cerebellar signs such as ataxia and inability to coordinate
  • Pyramidal signs such as weakness and spasticity
  • Myoclonic jerks
  • Sleep disorders such as sleep apnoea, REM behavioural disorders, excessive daytime sleepiness, and nocturnal sleep disturbances
  • Respiratory complications such as stridor
  • Dysphagia at later stages
  • Cognitive disability in later stages

Neurologist

  • Clinical history and examination
  • MRI Brain to determine hot cross bun sign in brain stem.
  • Polysomnography to check for sleep disorders
  • Autonomic nervous testing

  • No specific treatment is available.
  • Supportive care for prevention of orthostatic hypotension, sleep disorders, dysphagia, stridor, and parkinsonian symptoms
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Multiple Sclerosis (MS)

Management Team

Multiple Sclerosis (MS)

Overview

MS is an inflammatory demyelinating disorder of the central nervous system (CNS). MS occurs rarely before puberty and after the age of 60 years. Peak incidence occurs between 30 and 40 years of age. The episodes are often triggered by smoking, deficiency of vitamins D or B12, and higher altitudes.

  • Exact cause is unknown
  • May be attributed to a combination of environmental and genetic factors

  • Genetics: A gene on chromosome 6p21 is associated with MS, and about 200 genes contribute to the MS risk
  • Family history
  • Female sex 
  • Age range 20 to 40 years
  • Race: White people, especially those from Northern Europe, are at the highest risk.
  • Climate: MS is more common in temperate climates, such as Canada, the northern United States, and Europe
  • Low vitamin D levels
  • Obesity
  • Smoking; second-hand smoke exposure may be related to the risk of paediatric MS.
  • Epstein-Barr virus (EBV)
  • Gut dysbiosis

Symptoms depend on the structure involved in neuraxis

  • Transverse myelitis
    • Weakness, sensory symptoms
    • Urinary urgency and retention
    • Flexor spasms
    • Spastic quadra or paraparesis
    • Sensory level
  • Brainstem
    • Ataxia
    • Diplopia
    • Dysarthria
    • Facial numbness
    • Internuclear ophthalmoplegia
    • Gaze palsy
    • Rubral tremor
  • Cerebellum
    • Ataxia
    • Dysarthria
    • Nystagmus
  • Optic neuritis
    • Visual loss
    • Painful eye movements
    • RAPD (relative afferent pupillary defect)
    • Impaired colour vision (Ishihara colour plates)
    • Decreased acuity
    • Optic atrophy
  • Cerebral hemispheres:
    • Poor memory
    • Disinhibition
    • Dementia
    • Epilepsy (rarely)
    • Lhermitte’s symptom (Neck flexion causes current like sensation or tingling)
    • Uhtoff’s phenomenon, which is worsening of symptoms, e.g. vision, when body temperature is raised due to hot shower or exercise
    • Internuclear ophthalmoplegia (impaired adduction on abducting the other eye)

85% of patients experience relapse or disease remittance (RRMS), 50–60% experience the secondary progressive phase (SPMS), and 10% have primary progressive disease (PPMS) with gradual accumulation of disability.

  • MRI to determine T2W high signal changes in the corpus callosum, periventricular white matter, and brainstem
  • McDonald criteria
  • Evoked responses evaluation:
    • Visual evoked responses (VER): delayed even after the recovery of optic neuritis
    • Somatosensory evoked potentials (SSEP)- delayed in cases of spinal cord lesions.

Neurologist

  • Corticosteroids
  • Disease-modifying therapy (DMT) : Interferons, Glatiramer acetate, Monoclonal antibodies natalizumab, rituximab, alemtuzumab
  • Supportive treatment for spasticity, bladder dysfunction, fatigue
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Multifocal Motor Neuropathy with Conduction Blocks (MMNCB)

Management Team

Multifocal Motor Neuropathy with Conduction Blocks (MMNCB)

Overview

MMNCB is an autoimmune neuropathy affecting middle-aged males causing weakness in a specific nerve distribution. It results in sequential weakness of different parts of limbs.

It is caused due to generation of autoantibodies (anti GM1), which damage the nerve fibres and leads to failure of conduction of nerve impulse.

It is a rare disorder and the risk factors are not known.

  • Weakness and atrophy of hands and legs, hand grip weakness, wrist and foot drop
  • Distal involvement
  • No sensory symptoms

Neurologist

  • Clinical signs and symptoms
  • NCV: demonstration of conduction block (>50% decrease in amplitude of motor unit across proximal and distal stimulation)
  • Nerve biopsy (rarely needed)
  • Blood tests for anti GM1 antibodies

  • Immunomodulation using intravenous immunoglobulins. Other immunomodulators such as cyclophosphamide, or rituximab may also be used
  • Rehabilitation using orthosis and assistive devices
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Mitochondrial Disorders

Management Team

Mitochondrial Disorders

Overview

Mitochondrial neurological disorders are a group of conditions that affect the brain and nervous system due to dysfunction of the mitochondria, the energy-producing structures within cells. They may affect brain, spinal cord, nerves, or muscles and produce a cluster of symptoms. Mitochondrial neurological disorders can be caused by mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) and may be inherited in various patterns.

  • Mitochondrial myopathies (muscle disorders)
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
  • Kearns-Sayre syndrome (KSS)
  • Leigh syndrome
  • Progressive external ophthalmoplegia (PEO)
  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
  • Mitochondrial DNA depletion syndrome
  • Friedreich's ataxia
  • Hereditary spastic paraplegia
  • Mitochondrial optic neuropathies (e.g., Leber hereditary optic neuropathy)

Caused by genetic mutations

  • Genetic mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA); however, many cases occur without a family history
  • Environmental toxins
  • Infections
  • Aging can negatively affect mitochondrial function and increase the risk of secondary mitochondrial dysfunction (SMD)

  • Muscle weakness and paralysis
  • Seizures and epilepsy
  • Cognitive impairment and dementia
  • Vision loss and blindness
  • Hearing loss and deafness
  • Ataxia (coordination and balance problems)
  • Spasticity and stiffness
  • Peripheral neuropathy

Neurologist

  • Clinical evaluation
  • MRI brain
  • Muscle biopsy in mitochondrial myopathy
  • Genetic testing

  • Supportive care- Rehabilitation
  • Genetic counselling
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Migraine

Management Team

Migraine

Overview

Migraine is a neurological disorder causing hemicranial headache and affecting the quality of life of patient.

  • Exact cause is unknown
  • Genetic
  • Stress
  • Hormonal changes
  • Medications
  • Sleep disorders
  • Weather changes
  • Overexercise
  • Caffeine or tobacco
  • Skipping meals
  • Bright lights, loud sounds, or strong odours

  • Family history
  • Female sex
  • Migraines usually begin during adolescence and peak in 30s.
  • Hormonal changes
  • Other medical conditions including depression, anxiety, bipolar disorder, sleep disorders, and epilepsy
  • Medications

  • Throbbing pain in one half of the head, starting in forehead and radiating backwards
  • Nausea and vomiting
  • Sensitivity to light and sound
  • Headache preceded by fatigue or low mood
  • May or may not be associated with aura- visual phenomenon with scintillating lights appreciated in visual field
  • Headache increases in intensity gradually, may remain for 48–72 hours.
  • Precipitated by lack of sleep, hunger, stress, exposure to heat or cold, certain smells or food items
  • Frequency and intensity vary from person to person

Neurologist

  • Clinical examination
  • MRI brain if any red flags in the history or papilloedema

Based on examination, migraines can be classified as follows:

  • Migraine with aura
  • Migraine without aura
  • Abdominal migraine
  • Basilar migraine
  • Silent migraine
  • Chronic migraine
  • Status migrainosus

  • Abortive medications like paracetamol and others
  • Prophylactic medications to decrease headache frequency
  • Medications available as subcutaneous injections in refractory and chronic cases
  • Botulinum injection in refractory cases
  • Transcranial magnetic stimulation is also done in refractory cases
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Menstrual Disorders

Management Team

Menstrual Disorders

Overview

A menstrual disorder refers to any disruption in the normal menstrual cycle, involving abnormal conditions that affect a woman’s hormone balance and menstrual cycle. 

Menstrual disruptions can take different forms:

  • Heavy periods (menorrhagia): Bleeding that is excessively heavy or prolonged.
  • Painful periods (dysmenorrhea): Menstrual cramps that are more severe than usual.
  • Irregular periods (oligomenorrhea or polymenorrohea): Cycles that are too long (more than 35 days) or too short (less than 21 days).
  • Missed periods (amenorrhea): No period for three or more consecutive months, without being pregnant.
  • Premenstrual syndrome (PMS): A group of emotional and physical symptoms occurring before the start of menses.
  • Premenstrual dysphoric disorder (PMDD): A more severe form of PMS that leads to significant mood changes and disruption to daily life.

The causes of menstrual disorders vary depending on the type of issue, and sometimes multiple factors are involved:

  • Hormonal imbalance: Fluctuations in the levels of hormones such as oestrogen and progesterone can cause irregularities in the menstrual cycle. Hormonal imbalances are especially common during puberty, after childbirth, and close to menopause.
  • Pelvic inflammatory disease (PID): Irregular periods and pain can occur as a result of infections in the female reproductive organs.
  • Polycystic ovary syndrome (PCOS): This leads to irregular periods and is often associated with elevated levels of androgens (male hormones).
  • Thyroid disorders: Menstrual irregularities is often seen among those with an overactive or underactive thyroid (hyperthyroidism or hypothyroidism, respectively).
  • Uterine fibroids: Heavy or prolonged periods can occur due to non-cancerous growths called polyps in the uterus.
  • Endometriosis: Tissue or cells mimicking the uterine lining starts growing at abnormal places, leading to painful periods.
  • Medications: Birth control pills, blood thinners, and some other medications can affect your cycle.
  • Stress and lifestyle factors: Significant stress, rapid weight changes, or extreme exercise can disrupt the menstrual cycle.

The symptoms of menstrual disorders depend on the specific condition, but common signs to watch out for include:

  • Unusually heavy bleeding (hourly usage of more than one tampon or napkin for several times)
  • Prolonged periods (lasting over seven days).
  • Bleeding between periods or after menopause.
  • Missing periods for three or more months.
  • Severe menstrual cramps that are not alleviated with over-the-counter pain relievers.
  • Fatigue, dizziness, or shortness of breath due to heavy blood loss.
  • Mood swings, irritability, or depression around the time of your period (especially if it severely affects your daily life).

Taking a detailed medical history and asking questions about your cycle. Depending on your symptoms, we may use the following diagnostic tools:

  • Pelvic exam: This helps doctors identify any abnormalities in the reproductive organs.
  • Blood tests: These can help doctors ascertain the presence of hormonal imbalances, thyroid issues, or underlying health conditions.
  • Ultrasound: An imaging test to closely examine the uterus, ovaries, and pelvic organs, checking for fibroids, polyps, or cysts.
  • Endometrial biopsy: Sample of the uterine lining is obtained to rule out other conditions.
  • Hysteroscopic surgery: A thin, lighted instrument that allows doctors to look inside the uterus is used; this test helps doctors detect abnormalities like fibroids or polyps.

The treatment for menstrual disorders depends on the cause, but here are the most common options:

  • Medication: Pain relievers like ibuprofen can help reduce cramps and bleeding. Hormone-based treatments, such as birth control pills, can regulate or lighten periods.
  • Hormone replacement therapy (HRT): For hormone imbalance treatment, options such as progestin therapy or hormonal IUDs can help reduce the intensity of bleeding and regulate the menstrual cycle.
  • Surgery: If uterine fibroids or polyps are causing heavy bleeding, surgery to remove them may be recommended. For endometriosis, laparoscopic surgery can be used to remove tissue growths.
  • Lifestyle adjustments: Sometimes, simple changes like stress management, exercise, and maintaining a healthy weight can make a noticeable difference.
  • Treatment for underlying conditions: If thyroid disease, PCOS, or another condition is the cause of your menstrual disorder, addressing that condition is the first step in restoring balance to the menstrual cycle.

Periods may be a natural part of life, but that does not mean you have to suffer in silence. If

your cycle is impacting your life, it is advisable to get it checked.

While it is not always possible to prevent menstrual disorders, maintaining a healthy lifestyle can help keep your cycle regular and your symptoms manageable:

  • Maintaining a healthy weight
  • Regular exercise
  • Appropriate stress management
  • Consumption of a balanced, nutritious diet
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M

Mammography

Management Team

Mammography

Overview

A mammogram is a specialized X-ray of the breast showing small details of breast tissue performed. It is performed both as a screening test and as a diagnostic exam.

The early detection of breast cancer can lead to early treatment. Mammograms can detect breast changes that may or may not be felt during a physical examination, including small changes requiring further investigation. The images are then interpreted by a radiologist.

  • A screening mammogram is used to detect early breast cancer in women with no symptoms. Screening mammography can begin at 40 years of age (according to latest American College of Radiology and Society of Breast Imaging guidelines), but some women at high risk of breast cancer may need to start earlier. Discussion with your doctor about your risk for breast cancer and when you should get screened would be worthwhile.
  • Diagnostic mammogram is done to evaluate abnormal clinical findings, such as a breast lump or nipple discharge identified by the woman or her doctor. Diagnostic mammography may also be performed after an abnormal screening mammogram to further evaluate the area of concern.

Breast tomosynthesis or 3D mammography is a new technique wherein images in multiple slices of entire breast are taken to better aid in determining size, shape, and location of an abnormality. Global research has shown better cancer detection rates and a decrease in call backs when compared to using conventional 2D mammography.

Mammograms typically involve a small radiation dose, and thus, the health risk is very low. The radiation does not remain in the patient’s body after the test. The benefits of detecting small tumours far outweigh the risk associated with radiation exposure.

In case you are pregnant or breast-feeding, it is vital to inform prior to undergoing the mammogram. Another appropriate alternative like an ultrasound scan may be performed, if deemed pertinent. 

  • No fasting is required
  • Please bring all your previous investigations (films and reports) when you come for the test
  • You will be asked to undress waist upwards
  • If you have undergone breast implant surgery, any previous breast surgery, chemoport insertion or pacemaker, please inform the technician when you come to the mammography room
  • Avoid wearing perfume, lotion, powder or deodorant on your breasts and underarms as it may affect image quality.
  • Fall risk assessment: If you have any prior history of vertigo, giddiness, vasovagal attacks, difficulty in standing, please inform the technician in the mammogram room.
  • You will be asked to sign a consent form, which states that you agree to undergo the test and understand what it involves.

Pressure may be felt as each breast is squeezed by the compression paddle. If you experience any discomfort, please inform the technologist. During tomosynthesis, the tube rotates in an arc-like fashion; therefore, your face and other body parts must remain away from the tube to avoid artefacts.

The images will be interpreted by a radiologist and sometimes a follow-up is necessary to further evaluate an area of concern. Though it may seem alarming, many women are called back to help in preparing the most accurate report. If the radiologist spots a potential area of concern, you may be asked to return for additional diagnostic mammogram images or ultrasound.

No special instructions need to be followed, and one can pursue normal activities.

Dense breast tissue makes it difficult to see a cancer on mammogram. In such scenarios, a sonomammogram (breast ultrasound) may be suggested for additional evaluation. Breast implants may block a clear view of tissues underneath and it is advisable to inform the technologist prior to the test.

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Malocclusion

Management Team

Malocclusion

Overview

Malocclusion, also termed as bad bite, is one of the most common dental conditions. This condition involves the misalignment of the upper and lower teeth when the mouth is closed. Typically, malocclusion is a consequence of the teeth being too large for the mouth, crooked, or crowded within the jaw; the misalignment of the upper and lower jaws can also lead to this condition.

Malocclusion has several causes: 

  • The teeth are too large relative to the size of the jaw; this leads to the crowding of teeth and disturbs the alignment between the upper and lower jaws
  • Thumbsucking in a baby or toddler
  • Diastema (gaps between teeth) due to missing teeth; this causes other teeth to migrate, causing malocclusion.
  • Hereditary conditions that affect the jaw: these may cause the misalignment of teeth.

Tooth grinding (bruxism) has been indicated as a risk factor for malocclusion.

  • Malocclusion commonly affects the appearance of an individual, resulting in a noticeable overbite (overjet or retrognathism: the lower teeth are too far behind the upper teeth) or an underbite (the upper front teeth are too far behind the lower front teeth)
  • Difficulties or discomfort while biting correctly (open bite) or chewing
  • Mouth breathing
  • Speech difficulties (rare), such as the presence of a lisp 

During routine dental checkups, dentists check the alignment of the teeth. Dental X-ray imaging may be performed for understanding the patient’s condition better or making impressions of the teeth. Based on these results, a visit to an orthodontist is recommended for treating malocclusion.

The methods may be used for the treatment of malocclusion:

  • Application of tooth braces: The consistent, gentle tug of the braces on the teeth enables the reshaping of the underlying bone in the tooth socket, which causes a permanent shift in the position of the teeth such that they are aligned correctly.
  • Application of tooth aligners: these clear plastic-based devices gradually reposition the teeth such that they are aligned correctly.
  • Teeth removal: This may be recommended to ease tooth overcrowding.
  • Corrective surgery: The jaw may be surgically repaired to correct inherited/developmental issues or fix jaw fractures that did not heal properly.
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Mouth (Oral) Cancer

Management Team

Mouth (Oral) Cancer

Overview

Oral cancer, often categorised as head and neck cancers, refers to cancers developing in one or more of the following parts of the oral cavity:  

  • Lips
  • The floor and/or roof of the mouth
  • Gums
  • Tongue
  • Inner lining of the cheek

Mouth cancers form as a result of changes in the DNA in cells on the lips or in the mouth; these changes dictate the cells to continue division and growth in situations where apoptosis, i.e., programmed cell death to get rid of abnormal/unnecessary cells, usually occurs. The abnormal mouth cancer cells accumulate to form a tumour. The causes underlying the changes in squamous cells that ultimately lead to mouth cancer have not yet been identified; however, the factors that have been reported to increase the risk of developing mouth cancer are as follows:

  • Frequent use of tobacco products, including cigarettes, cigars, pipes, chewing tobacco, and snuff
  • Heavy alcohol consumption
  • Exposure of the lips to excessive sunlight
  • The human papillomavirus (HPV), a sexually transmitted virus
  • A weakened immune system1

  • A sore on the mouth or lip that does not heal
  • A reddish or whitish patch or a growth or lump within the mouth
  • Loose teeth
  • Jaw and/or ear pain
  • Pain or difficulty in swallowing

If the afore-mentioned symptoms are observed to persist and last more than two weeks, patients are advised to visit their doctor as soon as possible.

The following tests are used to diagnose mouth cancer: 

  • Physical examination: The dentist checks the mouth and lips to detect abnormalities and/or areas that cause pain/discomfort, such as white patches (leucoplakia) and/or sores2
  • Biopsy: A piece of tissue or fluid is excised or aspirated from the body to be tested in the laboratory.

The stage and location of the cancer and the overall health and personal preference of the patients determine the therapeutic modality to be used for mouth cancer treatment. A patient may require one or a combination of the following treatments:

  • Surgical resection: The oral surgeon may excise the tumour; to ensure the removal of all the tumour cells, the margin of healthy tissues may also be removed. If the cancer has been observed to have spread to the cervical lymph nodes, they are also dissected. Usually, after surgical resection, to help the patient regain the ability to eat and talk, reconstructive surgery to repair and rebuild the tissues in the mouth is recommended.  
  • Radiation therapy: Cancer cells are killed by subjecting them to treatment with high-energy waves or particles, such as gamma rays, X-rays, electrons, or protons. Often, radiation therapy is used post-surgery; however, sometimes, for patients with early-stage mouth cancer, it may be used alone.  
  • Chemotherapy: Cancer cells are killed using chemicals, i.e., chemotherapy drugs. These drugs are often administered alone or in combination with other drugs/therapeutic modalities for cancer treatment. As chemotherapy has been reported to exert synergistic effects with radiation therapy, enhancing the efficacy of the latter, the two are often administered as a combination.
  • Targeted drug therapy: Targeted drugs that alter specific growth-related aspects of cancer cells can be used to eliminate these cells. Often, these drugs are used in combination with chemotherapy/radiation therapy or alone.
  • Immunotherapy: Immunotherapy is based on fighting cancer using the patient’s immune system. Because cancer cells often demonstrate immune evasion, i.e., escape from the immune system, by various techniques, such as the production of specific proteins that “blind” the immune system, the body's immune system may fail to recognise and kill these cells. Immunotherapy is based on interfering with this “immune evasion” process. Generally, immunotherapy-based treatments are reserved for patients with advanced-stage mouth cancers for which standard treatments have been ineffective4.
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