Recognising Symptoms of Pompe is Crucial, say Experts

On the occasion of International Pompe Day, leading experts have laid emphasis on understanding the symptoms of this rare disease for timely diagnosis and treatment.
Pompe is a type of Lysosomal Storage Disorder (LSD) and Limb-Girdle Muscular Dystrophy (LGMD) which are groups genetic rare disorders. The symptoms of Pompe differ from patient to patient and hence, the diagnosis becomes difficult and leads to delayed treatment. Thus, it is vital that symptoms are recognised timely and necessary steps can be taken.
“Pompe disease is one of the treatable LSDs with the highest mortality rate among untreated infants. It is a rare inherited disease condition and occurs due to a lack of an enzyme called acid alpha-glucosidase (GAA). This lack of enzyme leads to the build-up of a particular type of sugar (glycogen) in the muscle cells and heart muscle which causes cardiac failure and muscle weakness, said Dr. Sheela Nampoothiri, Clinical Professor, Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre (AIMS)
Basis the age, there are three categories of Pompe- Classic Infantile, Non-Classic Infantile and Late- Onset. In Classic Infantile, symptoms appear in the first three months of an infant’s life which can be weak muscles, respiratory muscle weakness and heart muscle weakness. In Non-Classic Infantile, symptoms appear by the time an infant is 12 months old. They might also appear later. Children suffering from this condition have delayed motor skills, and muscle and respiratory weakness.
People with Late-Onset might not have symptoms till adolescence or adulthood. They have progressive muscle weakness, restricted limb movements and fatigue.
Elaborating further Dr. Sheela added, “The symptoms and the severity of the disorder depends on the age at which it appears. The symptoms are milder in adults than in infants and adults with Pompe disease do not have heart involvement. Adults with Pompe disease present with progressive muscle weakness. What needs to be kept in mind is that awareness of the symptoms is necessary so that early diagnosis can be made and treatment can be initiated early. Dried blood spot is a very effective screening test which helps in detecting Pompe. Once the condition is detected, the patient can be initiated on enzyme replacement therapy for providing the missing enzyme which will lead to significant improvement of cardiac and muscle symptoms.”
Enzyme Replacement Therapy (ERT) is the treatment available for some of the LSDs including Pompe. It has been proven to be successful and has drastically improved the quality of life of patients. The availability of proper screening tests and consequent treatment makes it imperative for the patients to recognise the symptoms.


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