While her family had initially brushed it off, the young girl's odd gait continued for four years, along with symptoms like slurring of speech
A Hyderabad-based doctor diagnosed a 21-year-old woman with Wilson's disease after she began showing unusual movements while walking—which almost looked like dancing. While her family had initially brushed it off, her odd gait continued for four years—along with symptoms like slurring of speech.
She was then examined by Dr. Sudhir Kumar, a neurologist at Apollo Hospitals, who noticed signs that pointed to the rare inherited condition along with dysarthria - a condition where muscle control for speech is affected, causing unclear or slurred speech. “There was no history of jaundice or any hepatic symptoms. Family history was unremarkable for neurological or hepatic disorder,” Dr. Kumar wrote on X.
While the girl did not have any mental health issues, memory problems, or jaundice, her MRI of the brain demonstrated hyperintense signal changes in the midbrain—findings that are typically associated with Wilson’s disease. Dr. Kumar said she also displayed choreoathetoid movements — involuntary, jerky, and writhing motions — in her right arm and leg.
And so, what seemed like dancing was, in fact, a symptom of a treatable neurological condition.
What is Wilson's disease?
Wilson disease is a rare genetic condition that occurs when your body accumulates a lot of copper - especially in the liver and brain. Your body needs a small amount of copper from food to stay healthy, but without treatment, Wilson disease causes extremely high levels of copper that cause life-threatening organ damage.
Experts say the condition is generally passed on from parents to children. It needs a copy of the abnormal gene from each parent, but it is difficult to know who will develop it because parents often have no symptoms to let them know that they carry the abnormal gene.
The disease affects an estimated one out of every 30,000 people and is more common among those with a family history of the condition. There are more people who have only one copy of the abnormal gene, known as carriers, who usually do not have the symptoms, even though they can give the disease to their children.
How does Wilson's disease affect your body?
Doctors say Wilson's disease, without early diagnosis and treatment, can lead to life-threatening complications. High and toxic levels of copper in your body - especially in the liver and brain—can put you at risk of permanent organ damage. It also affects how you feel, often making you very tired or weak and uncomfortable or in pain, along with weakness and tiredness.
According to experts, a mutation of the ATP7B gene causes Wilson's disease. This gene is responsible for removing extra copper from your body.
Normally, the liver releases extra copper into a fluid that’s then stored in your gallbladder to help digestion (bile). Bile carries copper, along with other toxins and waste products, out of the body through your digestive tract. If you have Wilson disease, your liver releases less copper into your bile, and the extra copper stays in your body.
Signs and symptoms of Wilson disease
According to doctors, the symptoms of Wilson's disease vary a lot from one person to another. It is present at birth, but the symptoms do not appear until copper builds up in your liver, brain, eyes, or other organs. Those who have Wilson disease typically develop symptoms between ages 5 and 40.
A few of these include:
- Inflammation of the liver
-
Fatigue
- Nausea and vomiting
- Poor appetite
- Pain over the liver
- Dark urine colour
- Light coloured stool
- Fatigue and weakness
- Unexpected weight loss
- Bloating from a buildup of fluid in the abdomen
- Swelling of the lower legs, ankles or feet
- Itchy skin
- Severe jaundice
-
Stiff muscles
- Tremors or uncontrolled movements
- Anxiety
- Anemia
- Arthritis
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