A condition, known commonly as "black urine disease" or Alkaptonuria is a rare genetic disorder involving protein metabolism, and it has its root in the mutation of the homogentisate 1,2-dioxygenase gene, which in turn causes homogentisic acid accumulation in the body. The appearance of dark urine after exposure to air is due to this kind of accumulation; however, a variety of symptoms can be expected, such as joint stiffness, changes in pigmentation, and other long-term health complications. Although the prevalence has been estimated to be between 1 in 250,000 and 1 in 1 million people in the United States, its effects are indeed high on those affected.

Alkaptonuria is an autosomal recessive disease, meaning that the child must inherit a defective copy of the HGD gene from both parents. If both parents are carriers, their offspring have a 25% chance of inheriting two faulty genes and developing alkaptonuria. The condition is genetic but is often not diagnosed for years because it progresses slowly and its early symptoms appear to be harmless.

Symptoms of Alkaptonuria

The most characteristic and common initial symptom of alkaptonuria is dark urine. The reason for this is due to the fact that excess HGA is excreted in the urine and upon oxidation in the presence of air, it gives the urine a brown or black color. Though it is often considered cosmetic, the long-term accumulation of HGA within the connective tissues produces more complicated health problems.

Progressive joint pain and stiffness: The accumulation of HGA in cartilage leads to early-onset osteoarthritis, making movement increasingly difficult over time.

Skin and eye pigmentation changes: Affected individuals may develop bluish or grayish discoloration of the sclera (white part of the eye) and the skin, particularly in areas exposed to friction.

Cardiovascular and respiratory problems: With age, HGA accumulation can lead to valve calcifications in the heart and stiffening of connective tissues in the respiratory tract, which can cause problems in middle and old age.

Decreased mobility and spinal problems: The spine may become stiff and painful due to chronic cartilage degeneration.

These symptoms usually begin to manifest during adulthood, leading to severe complications in a person's 40s or 50s and significantly affecting the quality of their life.

How is Alkaptonuria Diagnosed?

Because of its rarity, alkaptonuria is often mistaken or overlooked early in life. However, there are several ways to confirm the condition:

Urine Testing: The gold standard in the diagnosis is the testing of urine samples for high levels of homogentisic acid via gas chromatography. In case of oxidation, which changes the color of urine to black, it is indicative of alkaptonuria.

Genetic Testing: Confirmatory genetic testing reveals mutations of the HGD gene to diagnose the condition conclusively.

Blood Tests: High levels of HGA in the blood can be used as further evidence.

Imaging Studies: X-rays and MRIs will expose cartilage and joint damage characteristic of alkaptonuria.

Management of Alkaptonuria: Is There A Cure?

At present, there is no cure for alkaptonuria; however, various treatment approaches can reduce its symptoms and slow the disease's progress:

Nitisinone Therapy: Nitisinone is a drug that inhibits the production of HGA. It has been shown to reduce HGA levels and slow tissue damage. However, it needs to be taken under close medical supervision because of potential side effects.

Low-Protein Diet: Since HGA is a byproduct of protein metabolism, reducing protein intake—especially foods rich in tyrosine and phenylalanine—may help decrease HGA production.

Pain Management: OTC pain relievers and anti-inflammatory medications can be used to relieve joint pain and stiffness.

Physical Therapy: Exercise regularly, as it may improve mobility and strengthen muscles, thus reducing strain on affected joints.

Surgical Interventions: Most people with alkaptonuria develop severe osteoarthritis necessitating joint replacement in their old age. Also, some may require heart valve replacement surgery if cardiovascular complications develop.

Life with Alkaptonuria

Although alkaptonuria is not fatal, it severely affects the quality of life. The progressive deterioration of the joints and associated symptoms can make everyday activities difficult, requiring lifestyle changes and medical interventions. The disease may cause premature aging of the joints, requiring walking aids and mobility assistance earlier than expected.

Ongoing research will continue to work on improving the treatment options by focusing on gene therapy and alternative enzyme replacement therapies. However, because of its rarity, the clinical trials and research remain sparse.

As genetic research advances, more hope for better management and possible curative approaches for alkaptonuria exists. Scientists are searching extensively for enzyme replacement therapies and innovative drugs that can target the root cause of the disorder. Being aware and being diagnosed early helps individuals better their condition and ultimately have better long-term health outcomes.

Alkaptonuria is a striking example of how one gene mutation can have widespread effects on the body. Though still a rare and often misunderstood condition, growing awareness and advances in treatment are paving the way for better care. If you or a loved one suspect symptoms of alkaptonuria, it is essential to seek early diagnosis and medical guidance to manage the disease effectively and preserve quality of life.

Multiple Sclerosis is a chronic and progressive neurological condition affecting an estimated 1.5–2 lakh people in India, and remains one of the country's most overlooked invisible disabilities.

Many of its symptoms, including fatigue, cognitive impairment, chronic pain, visual disturbances, and bladder dysfunction, are often not outwardly visible, contributing to delayed diagnosis, barriers to disability recognition, insurance challenges, and difficulties in accessing long-term care and support.

Declaration at National Policy Dialogue

In a significant step towards strengthening disability-inclusive healthcare and social protection in India, policymakers, neurologists, disability rights advocates, insurance stakeholders, and persons living with Multiple Sclerosis (MS) today endorsed a landmark 10-point Declaration on Invisible Disabilities and Gender at the National Policy Dialogue organized on the occasion of World Multiple Sclerosis Day 2026.

The National Policy Dialogue was held under the theme, "Shaping Policy. Advancing Access. Improving Lives."

"India has made significant progress in recognizing the rights of persons with disabilities, and conversations such as these are essential to ensuring that our laws, policies, and institutions continue to evolve in ways that better reflect the lived experiences of people affected by conditions such as MS," said Menaka Guruswamy, Member of Parliament, Rajya Sabha.

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Barriers to Care and Support

Experts from the Multiple Sclerosis Society of India (MSSI) stated that for people living with Multiple Sclerosis, the challenges often extend far beyond the disease itself.

Delayed access to insurance, high out-of-pocket costs, limited awareness of available entitlements, and the absence of comprehensive patient data continue to create barriers to timely care.

Thus, they expect the Declaration to catalyze stronger insurance inclusion, better access to support systems, and a more robust national understanding of the true burden of MS in India.

The 10-Point Declaration

The Declaration on Invisible Disabilities and Gender outlines a roadmap to strengthen implementation of the Rights of Persons with Disabilities (RPwD) Act, 2016, and improve the inclusion of invisible neurological conditions within India's healthcare, disability, and welfare systems.

Key recommendations include:

• Recognition guidelines for invisible and episodic disabilities under the RPwD Act.
• Flexible disability certification for people with fluctuating conditions.
• Inclusion of MS and other chronic neurological conditions within National Health Mission care pathways.
• Expansion of the Indian MS Registry Network (IMSRN) into a broader national invisible disability registry.
• Affordable access to disease-modifying therapies and long-term neurological care.
• Expanded tele-neurology services across India.
• Gender-sensitive diagnosis and treatment pathways.
• Stronger digital monitoring of disability rights implementation.
• Inclusive workplace policies for invisible disabilities.
• A National Mission on Invisible Disabilities.

Call for Stronger Policy and Healthcare Support

The declaration reflects a growing consensus among stakeholders that India's healthcare and social protection systems must evolve to better address invisible conditions that significantly affect an individual's functional ability, quality of life, and socioeconomic participation.

"Multiple Sclerosis is a complex, unpredictable, and lifelong neurological condition that requires early diagnosis, timely intervention, and sustained access to advanced therapies. While often simplified for patient understanding, the clinical reality is far more challenging and demands a nuanced approach to treatment and long-term care," said Dr. R.K. Dhamija, Distinguished Neurologist, Director, IHBAS, and Chair, National Task Force, NITI Aayog Brain Health Initiative.

"Investing in neurological care is not merely a healthcare expenditure; it is an economic imperative that helps prevent irreversible disability, reduces long-term care costs, and enables people to remain active and productive," Dr. Dhamija added.

For many people, tobacco does not begin as an addiction; it starts as a habit woven into ordinary moments of daily life. A cigarette shared with friends, a smoke break during a stressful day, or chewing tobacco after meals can soon become a routine that feels difficult to avoid.

While these habits may seem harmless in the beginning, tobacco slowly affects nearly every organ in the body, often giving subtle warning signs long before a serious disease is diagnosed.

When The Body Starts Giving Signals

These effects rarely manifest suddenly and usually come after years of prolonged use. It is this slow progress that leads most tobacco users to believe that "I am fine." But there are unmistakable signs of some diseases brought about by the use of tobacco that ought not to be dismissed:

• The Persistent Cough: A cough that has lasted for more than two to three weeks, becomes progressively worse each day, and is associated with a wheeze.

• Unexplained Fatigue: A person feeling breathless or unnaturally tired after having climbed a couple of stairs or walking a short distance can easily attribute this to general fatigue.

• Weight Fluctuations: The unexplained drop in weight can also be caused by some diseases that tobacco is likely to inflict upon the body.

Changes Inside the Mouth

Oral cancer caused by tobacco often appears initially in the form of persistent mouth ulcers, white or red patches inside the mouth, and jaw stiffness. These painful and irritating conditions can be so subtle that a person is not concerned by them.

Persistent changes like the change in your voice pitch or constant throat irritation are not to be taken lightly, either; they could be signs of deeper problems arising. Seeking medical help when it is still in the superficial stages will not only decrease your chances of being treated with aggressive measures but may actually result in an easier way to fight the condition.

Beyond Lungs: Other Effects of the Illness

Tobacco affects much more than just the lungs, and many symptoms associated with chronic conditions often go unnoticed.

• Cardiovascular Strain: Dizziness and chest heaviness are indications of heart problems caused by the presence of toxins in the body.

• Physical Discomfort: Headaches or leg edema may sometimes be seen as manifestations of blood vessel disorders.

The Untapped Power of Prevention

The most important remedy at our disposal is not a complicated surgery but an accurate identification of such conditions at their superficial stage, allowing for minimal and non-invasive treatments.

The human body is an incredibly powerful machine at healing, and the instant the consumption of tobacco ceases, a chain of events kicks off that increases circulation and improves lung function.

If you ever find yourself dealing with a persistent cough, mouth ulcer, or undue fatigue, it is advisable to visit a specialist at the earliest to prevent future complications.

(By Dr Yash Mathur, Senior Head, Neck, Oral, and Robotic Onco-Surgeon at HCG Cancer Hospital, Borivali, Mumbai)

A growing body of global research is beginning to point in one direction: our eyes are under strain like never before. As per the report published on PubMed, myopia is projected to rise significantly worldwide, increasing from about 27% of the global population in 2010 to nearly 52% by 2050, highlighting its emergence as a major public health concern.

Although genetics has long contributed, there appears to be a significant environmental factor associated with how fast this shift has occurred.

Screens have become an integrated part of everyday lives, from the time of waking up to work on digital screens or scroll through phones late into the night. Digital devices are no longer optional but a constant priority.

Work, education, and entertainment are all now done on screens with little or no interruption. The growing generation of gadgets has its own advantages, but its impact has significantly contributed to the alarming rise in cases of myopia.

The Science Behind the Surge: Why Our Eyes Are Struggling

There are three major significant ways prolonged screen time could affect vision:

• Near Vision strain - Prolonged near-vision focus places a constant strain on the eye muscles, causing them to remain contracted. This will eventually lead to elongation of the eyeball and myopia.

• Reduced Blinking due to dry eyes - Screen use decreases the rate of blinking, which causes the eyes to dry out, leading to irritation and instability.

• Lack of Sunlight - Less time outdoors reduces the opportunity to receive sunlight. Sunlight exposure is especially important in children for proper vision development.

From Temporary Strain to Long-Term Damage

Mild discomfort, such as dryness, headaches, and blurred vision, can lead to more chronic issues. Digital eye strain is common among adults and children alike. However, the long-term outcome is the main concern.

Progressive myopia increases the chances of developing serious eye diseases like glaucoma, retinal detachment, and macular degeneration, and having to wear stronger prescription glasses. These aren't just short-term inconveniences; they can create lifelong risks that severely affect the quality of life.

The Post-Pandemic Effect: A Generation at Risk

The days when children spent their time flying kites, playing marbles, feeling the wind on their faces, and returning home with dust-covered hands have gradually faded into memory. The COVID-19 pandemic accelerated an already existing trend.

The screen time increased as many schools transitioned to online education and remote workers increased due to the pandemic. Above all, children experienced a sudden reduction in outdoor activity with increased exposure to digital devices.

The phase indicated a noticeable drop in the vision of the people. This period has often been referred to as a phase of “quarantine myopia,” where many young individuals reported a noticeable decline in vision.

As individuals return to normalcy, the habits that were established are continuing, and concern is being raised about a generation having poorer visual health.

Prevention Over Cure: Rethinking Visual Hygiene

Consistent habits are needed to address this issue:

• 20-20-20 rule: After every 20 minutes of looking at a digital device with stress, try to look at something far away (at least 20 feet away) for approximately 20 seconds to relax your eye muscles and reduce the stress placed on your eyes.

• Limit recreational screen time: Reducing the amount of time spent using screens will help reduce the likelihood of developing eye strain and progression of myopia, especially in children.

• Proper viewing distance and posture: Keeping screens at approximately one arm's length will help to minimise the amount of stress placed on your eyes and body.

• Encourage Outdoor Activity: Children between the ages of 6 and 16 years should be encouraged to engage in outdoor activities more frequently and not replace books with tablets or iPads.

• Mandatory Vision Screening: Vision screening and eye check-ups prior to school admissions should be made mandatory by the government, as early detection of myopia can help prevent further complications.

A Call for Collective Responsibility

The increase in use of screens is not an isolated event; it is part of the larger trend affecting how we live and work. To address this issue, we need to develop awareness among individuals, families, schools, and workplaces about proper screen use. A balanced daily routine, guided by parents, plays a crucial role in maintaining healthy vision in children.

Collective responsibility among teachers, parents, and government authorities is essential to prevent visual complications, as children represent our future generations. Greater public awareness around digital eye strain and eye health is also necessary, as it often serves as a precursor to multiple health complications.

Eye health must be seen as an essential part of overall well-being. The current trend may still be a developing issue, but it requires urgent attention. Acting early, with informed choices and preventive care, can ensure that technological progress does not come at the cost of long-term vision health.