'Even docs misdiagnose rare disease MPS'

'Even docs misdiagnose rare disease MPS'

A workshop was conducted in Maulana Azad Medical College (MAMC) on Tuesday to spread awareness about life-threatening rare genetic disorder, MPS. Doctors, researchers, parents and children gathered to observe the international MPS Awareness Day.

MPS (Mucopolysaccharidoses) is a group of genetic conditions in which the absence or deficiency of an enzyme causes problems like growth delays and retardation.

The disease is estimated to occur only in about one in every 25,000 births.
Dr Ratna Dua Puri, senior consultant at Sir Ganga Ram Hospital said, “The awareness of MPS is low even among medical practitioners who are not familiar with its symptoms. In many cases, they attribute the problem to other disorders, resulting in crucial delay in diagnosis and treatment of patients.”

Experts at the workshop, organised by the Lysosomal Storage Disorders Support Society, said early diagnosis is crucial and can save many lives.

“Early diagnosis and treatment may help afflicted children recover and lead a near-normal life.

“Lack of early diagnosis of disorder and prohibitive cost of ERT (enzyme replacement therapy) affects children due to severe mutation genes. It damages body organs,”  said Manjit Singh, state co-ordinator, LSDSS.

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