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‘Pompe disease disables heart’

LSDSS conducted a workshop to educate doctors, patients and care takers about Pompe Disease as part of the commemoration of Pompe day.

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The Lysosomal Storage Disorders Support Society (LSDSS) conducted a workshop to educate doctors, patients and care takers about Pompe Disease as part of the commemoration of Pompe day at Press Club on Friday.

Experts feel there is need to create awareness on Pompe disease. Only one among 40,000 people is affected by the disease. However, it is a fatal disorder that disables the heart and skeletal muscles. Dr Meenakshi Bhat, Consultant in Clinical Genetics, Centre for Human Genetics, said, “It is imperative to create awareness about Pompe Disease, a rare but debilitating medical condition. Low awareness, even among medical practitioners, is the main cause of delay in diagnosis and treatment. Government support is essential in financing the treatment of diseases such as Pompe, as it is one of the most deadly and costliest diseases.”

Pompe Day is commemorated to educate patients, care givers and their families to go for early diagnosis.

The disease is caused due to thickening of the blood in the heart, leading to chest congestions. “It affects infants, juveniles and adults. Muscle weakness in different parts of the body is the most common symptom of Pompe disease. The progressive, debilitating and fatal muscular disease causes pain in the pelvic girdle and shoulder girdle muscles, leaving the patients constricted. It also disables the heart,” said Dr SJ Patil, consultant, (clinical genetics), Centre for Human Genetics.

The disease is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). “Pompe is usually seen in people with GAA deficiency and will require treatment throughout their life. The treatment, which would otherwise be costly, is available free in most hospitals in the country,” he said.

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