Medically Verified By: Dr Tarun Mathur
Rare Disease Day 2026: The brain and nervous system are some of the most complex and delicate parts of the human body, controlling everything from movement and sensation to thought, emotion and behaviour. However, a small disruption in the form of uncommon neurological diseases can have a negative impact on the brain and affect our day to day activities such as movement, thinking abilities and behavioural science. These conditions can stem from genetic history, a disrupted immune system and metabolic irregularities. As we draw closer to observing Rare Disease Day 2026, which falls every year on the last day of February, let's take a look at some of the rare conditions that can target the brain and nervous system.
There are many uncommon neurological conditions that may appear trivial in our genes, however, they can strongly affect our nervous system. According to Dr. Tarun Mathur, Senior Consultant - Neurology at Paras Health, Udaipur, genes contain certain instructions that help our body and brain to function effectively, but sometimes these genes develop small errors known as mutations. He said, "When these mutations affect brain or nerve cells, they can interfere with the way signals are transmitted throughout the body, thereby making an individual more susceptible to neurological disorders. This sudden disruption can adversely impact body movement, thinking capability, behavioural functions and other nervous system mechanisms. In rare cases, children affected by such disruption may experience repeated episodes of paralysis."
There are some rare brain diseases that occur due to metabolic dysfunction, which stops the body from processing certain substances properly and have the potential to cause neurological problems. This can lead to harmful toxins building up in the body, thereby damaging the neurons and causing diseases such as Wilson's Disease. The neuroligist explains that this rare disease is caused by a faulty gene (ATP7B) that builds excessive copper in the brain, leading to psychiatric symptoms, tremors, mobility issues and sudden mood swings. Similarly, Batten disease is another rare disease that happens when accumulated waste gets stored in nerve cells, resulting in inflammation and cell death in the brain and eyes.
Guillain-Barre Syndrome (GBS) is another atypical neurological disorder in which the body's immune system involuntarily attacks its own nerves and brain cells, affecting the brain's essential enzymes and normal communication between the brain and body. Dr. Mathur notes, "This condition can trigger physiological symptoms as sudden body fatigue, muscle tightness or spasms. Stiff Person Syndrome (SPS), is another immune system disorder that particularly targets specific enzymes in the brain that can potentially lead to stiff muscles and intense cramps. These conditions show how certain nerves or brain areas can be damaged, often because the body confuses nerve proteins with germs."
Some rare conditions start with issues in the nervous system before a baby is even born. "For example, 22q11.2 deletion syndrome, wherein missing bits of genetic material can change the way the brain develops and can sometimes result in seizures and accelerate the risk of getting severe mental disorders such as schizophrenia," said Dr. Mathur. "Similarly, some congenital muscle and nerve disorders, like certain types of Charcot-Marie-Tooth disease, can affect the protective covering of nerves before birth, making it harder for signals to travel properly and causing lifelong movement and nerve problems. These examples show that even small problems during early development before birth can have lasting effects, leading to serious neurological challenges later in life."
Talking about treatments to manage rare neurological conditions, Dr. Mathur told Healthsite, timely recognition and diagnosis are important to effectively manage such conditions. In his words, "Understanding what causes these disorders and how they affect the nervous system is crucial for diagnosing them accurately, finding better treatments, and helping people live healthier, more active lives."
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