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  • India’s first Pompe disease patient passes away: What is this rare genetic disorder? | Explained News

India’s first Pompe disease patient passes away: What is this rare genetic disorder? | Explained News


Nidhi Shirol, India’s first Pompe disease patient, passed away last month at the age of 24 years after battling the disease. She spent the last six years in a semi-comatose state.

In 2010, her father Prasanna Shirol started the Organisation for Rare Diseases India (ORDI), the first NGO in the country for rare diseases. Here, he explains what the disease is, how common it is, and how it is diagnosed.

What is Pompe Disease?

Also known as Glycogen Storage Disease Type II, Pompe disease is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is crucial for breaking down glycogen into glucose within the lysosomes of cells.

Its prevalence estimates range from 1 in 40,000 to 1 in 300,000 births. It occurs across diverse ethnicities and populations. The age of onset and severity can vary, leading to a spectrum of clinical presentations.

How does Pompe disease affect an individual?

The severity of the condition and the progression of symptoms may differ among individuals. Some key symptoms are:

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*Muscle weakness: Progressive muscle weakness is a primary feature of Pompe disease. It affects both skeletal and smooth muscles, leading to difficulties in mobility and daily activities. Weakness in the respiratory muscles can result in breathing difficulties, especially during physical exertion or even while lying down.

*Motor skill delay: Children with the disease may experience delays in achieving motor milestones, such as sitting, crawling, and walking. The degree of motor skill delay can vary, and some individuals may never attain certain motor milestones.

*Degenerative impact on bones: Prolonged muscle weakness and reduced mobility can have a degenerative impact on bones, leading to joint contractures and skeletal deformities.

*Respiratory complications: The weakening of respiratory muscles, including the diaphragm, can have an impact. Patients may experience shortness of breath, respiratory infections, and in severe cases, respiratory failure.

*Cardiac involvement: In some cases, Pompe disease can affect the heart muscles, leading to complications. Symptoms such as heart palpitations, fatigue, and chest pain, may manifest.

*Hypertrophic cardiomyopathy: Pompe disease can cause hypertrophic cardiomyopathy, characterised by the thickening of the heart muscle walls. This can lead to impaired heart functions and cardiovascular symptoms.

*Implications for daily living: Patients may face challenges in performing daily activities independently due to muscle weakness and respiratory limitations. Assistive devices such as wheelchairs and respiratory support equipment may become necessary.

How is Pompe disease diagnosed?

Diagnosing Pompe disease involves a multi-faceted approach.

Enzyme assays are conducted to measure the activity of acid alpha-glucosidase (GAA), the deficient enzyme. Genetic testing identifies mutations in the responsible GAA gene.

Clinical evaluations consider the patient’s symptoms and medical history. Enzyme tests, often performed on blood or skin cells, provide crucial insights into GAA deficiency. Genetic analysis confirms the presence of specific mutations associated with Pompe Disease.

The combination of these diagnostic tools enables healthcare professionals to accurately identify and confirm the disease, helping achieve timely intervention and management.

Is Pompe disease curable?

While there is currently no cure for Pompe disease, there are treatment options available to manage symptoms and improve the patient’s quality of life. Enzyme Replacement Therapy (ERT) is a standard treatment, involving the infusion of the missing enzyme to alleviate glycogen buildup.





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