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How unusual walking pattern could be a sign of rare genetic disease

How unusual walking pattern could be a sign of rare genetic disease

News Karnataka 1 year ago

A Hyderabad-based neurologist, Dr. Sudhir Kumar, recently shared a remarkable medical case that has drawn widespread attention. On social media platform X, he detailed the story of a 21-year-old woman whose unusual walking pattern appeared as if she were dancing.

What initially seemed quirky turned out to be a symptom of a rare genetic disorder — Wilson's Disease.

For nearly four years, her family had observed her unusual gait and slight speech challenges. However, she showed no signs of mental instability, memory problems, or common liver-related symptoms like jaundice. During a clinical evaluation, specialists noted involuntary twisting and writhing motions on the right side of her body, a condition known as choreoathetosis, along with slurred speech, or dysarthria.

The breakthrough came during an eye exam, where a slit-lamp test exposed Kayser-Fleischer rings — copper deposits around the cornea, a hallmark sign of Wilson's Disease. MRI imaging also revealed unusual activity in areas such as the midbrain, pons, and lentiform nuclei — regions typically impacted by this disorder.

Wilson's Disease is a rare inherited condition where the body fails to eliminate surplus copper. This toxic buildup can harm vital organs like the liver and brain. Common symptoms range from fatigue, jaundice, limb swelling, and itching to tremors, speech trouble, and rigid muscles.

Although a blood test showed normal ceruloplasmin levels — often low in Wilson's — it can be misleading in 5-15% of cases. Therefore, detailed neurological and ophthalmological tests are crucial. She has now been started on chelation therapy with zinc and Vitamin B6 to eliminate excess copper.

#WilsonDiseaseAwareness #NeurologyMatters #RareDiseaseSpotlight #EarlyDiagnosisSavesLives

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